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المؤلفون: Sébastien Küry, Jinwei Zhang, Thomas Besnard, Alfonso Caro-Llopis, Xue Zeng, Stephanie M. Robert, Sunday S. Josiah, Emre Kiziltug, Anne-Sophie Denommé-Pichon, Benjamin Cogné, Adam J. Kundishora, Le T. Hao, Hong Li, Roger E. Stevenson, Raymond J. Louie, Wallid Deb, Erin Torti, Virginie Vignard, Kirsty McWalter, F. Lucy Raymond, Farrah Rajabi, Emmanuelle Ranza, Detelina Grozeva, Stephanie A. Coury, Xavier Blanc, Elise Brischoux-Boucher, Boris Keren, Katrin Õunap, Karit Reinson, Pilvi Ilves, Ingrid M. Wentzensen, Eileen E. Barr, Solveig Heide Guihard, Perrine Charles, Eleanor G. Seaby, Kristin G. Monaghan, Marlène Rio, Yolande van Bever, Marjon van Slegtenhorst, Wendy K. Chung, Ashley Wilson, Delphine Quinquis, Flora Bréhéret, Kyle Retterer, Pierre Lindenbaum, Emmanuel Scalais, Lindsay Rhodes, Katrien Stouffs, Elaine M. Pereira, Sara M. Berger, Sarah S. Milla, Ankita B. Jaykumar, Melanie H. Cobb, Shreyas Panchagnula, Phan Q. Duy, Marie Vincent, Sandra Mercier, Brigitte Gilbert-Dussardier, Xavier Le Guillou, Séverine Audebert-Bellanger, Sylvie Odent, Sébastien Schmitt, Pierre Boisseau, Dominique Bonneau, Annick Toutain, Estelle Colin, Laurent Pasquier, Richard Redon, Arjan Bouman, Jill. A. Rosenfeld, Michael J. Friez, Helena Pérez-Peña, Syed Raza Akhtar Rizvi, Shozeb Haider, Stylianos E. Antonarakis, Charles E. Schwartz, Francisco Martínez, Stéphane Bézieau, Kristopher T. Kahle, Bertrand Isidor
المساهمون: Clinical Genetics, Clinical sciences, Medical Genetics, Reproduction and Genetics, Centre hospitalier universitaire de Nantes (CHU Nantes), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), University of Exeter, MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), The Greenwood Genetic Center, GeneDx [Gaithersburg, MD, USA], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre hospitalier universitaire de Poitiers (CHU Poitiers), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Genève = University of Geneva (UNIGE), Yale School of Medicine [New Haven, Connecticut] (YSM), This work was granted by the French network of University Hospitals HUGO ('Hôpitaux Universitaires du Grand Ouest'), the French Ministry of Health, and the Health Regional Agencies from Poitou-Charentes (represented by Frédérique Allaire), Bretagne, Pays de la Loire, and Centre-Val de Loire (HUGODIMS, 2013, RC14_0107). W.K.C. was supported by grants from Simons Foundation Autism Research Initiative, United
المصدر: Genetics in Medicine, 24(9), 1941-1951. Lippincott Williams & Wilkins
GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1941-1951. ⟨10.1016/j.gim.2022.05.009⟩مصطلحات موضوعية: MESH: Symporters, Exome sequencing, Male, KCC2, Mutation, Missense, MESH: Catalytic Domain, Neurodevelopmental disease, Protein Serine-Threonine Kinases, X-linked intellectual disability, MESH: Brain, WNK3, SDG 3 - Good Health and Well-being, Loss of Function Mutation, Catalytic Domain, MESH: Mental Retardation, X-Linked, Humans, Phosphorylation, MESH: Hemizygote, Genetics (clinical), Hemizygote, MESH: Mutation, Missense, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Phosphorylation, Symporters, Brain, MESH: Loss of Function Mutation, MESH: Protein Serine-Threonine Kinases, MESH: Male, Mental Retardation, X-Linked, Maternal Inheritance, MESH: Maternal Inheritance
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::711e752a43d1442b0a91b2645fc1747e
https://doi.org/10.1016/j.gim.2022.05.009 -
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المؤلفون: Camille Kumps, Heather Paterson, Benoît Funalot, Marjon van Slegtenhorst, Ingrid M.B.H. van de Laar, Robin Clark, Elliott H. Sherr, Marion Gérard, Jasmine L.F. Fung, Emanuela Argilli, Megan E. Rech, Antonio Vitobello, Christian Netzer, Christian P. Schaaf, Coranne D. Aarts-Tesselaar, Angela Abicht, Lennart Lessmeier, Brian H.Y. Chung, Anne-Sophie Denommé-Pichon, Jason Carmichael, Frédéric Tran Mau-Them, Andrea Superti-Furga, Marion Aubert Mucca, Marcus Cy Chan, Nicolas Chassaing, Christine Coubes, Anne H. O’Donnell-Luria, Lynn Pais, Colleen Kennedy, Daphné Lehalle, Maries Joseph, Kathleen A. Leppig, Florian Erger, John Karl de Dios, Lance H. Rodan, Marjolaine Willems, Subhadra Ramanathan, Clara Velmans, Eleina M. England
المساهمون: Clinical Genetics
المصدر: Journal of Medical Genetics, 59(7), 697-705. BMJ Publishing Group
Journal of medical genetics, vol 59, iss 7
J Med Genetمصطلحات موضوعية: 0301 basic medicine, Pediatrics, Autism Spectrum Disorder, behavioural, Autism, Medical and Health Sciences, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, 2.1 Biological and endogenous factors, Aetiology, Child, Exome, Genetics (clinical), Pediatric, Genetics & Heredity, Syndrome, Biological Sciences, Mental Health, Autism spectrum disorder, Cohort, medicine.symptom, medicine.medical_specialty, Genetic counseling, Intellectual and Developmental Disabilities (IDD), human genetics, Article, 03 medical and health sciences, Seizures, Clinical Research, Intellectual Disability, Exome Sequencing, medicine, Genetics, Humans, business.industry, Human Genome, Macrocephaly, Neurosciences, medicine.disease, Human genetics, Megalencephaly, Brain Disorders, 030104 developmental biology, Neurodevelopmental Disorders, Congenital Structural Anomalies, mutation, business, 030217 neurology & neurosurgery, genetic counselling
وصف الملف: application/pdf
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المؤلفون: Marjon van Slegtenhorst, Paul Lasko, Jill R. Murrell, Romy van de Putte, Courtney Manning, Mary-Alice Abbott, Constance T. R. M. Stumpel, Jacqueline Leonard, Iris A.L.M. van Rooij, Servi J. C. Stevens, Han G. Brunner, Alexander Hoischen, Karin E. M. Diderich, Louise C. Pyle, Jorune Balciuniene
المساهمون: MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, MUMC+: DA Klinische Genetica (5), Clinical Genetics
المصدر: Clinical Genetics, 101, 183-189
Clinical Genetics, 101, 2, pp. 183-189
Clinical Genetics, 101(2), 183-189. Wiley
Clinical Genetics, 101(2), 183-189. Wiley-Blackwell Publishing Ltdمصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, caudal regression syndrome, Genotype, SACRAL AGENESIS, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Biology, Sacral Agenesis, persistent cloaca, sirenomelia, Vertebral segmentation defect, homeobox gene, Exome Sequencing, VACTERL, Genetics, medicine, Humans, Abnormalities, Multiple, CDX2 Transcription Factor, Genetic Predisposition to Disease, imperforate anus, Genetic Testing, Child, CDX2, Alleles, Genetic Association Studies, Genetics (clinical), Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Caudal regression syndrome, ELONGATION, Sacrococcygeal Region, Infant, Newborn, Infant, medicine.disease, HOX, Phenotype, digestive system diseases, Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10], Sirenomelia, Mutation, embryonic structures, Homeobox, GROWTH, Female, PARAHOX, Imperforate anus
وصف الملف: application/pdf
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المؤلفون: Ana Berta Sousa, Anneke J.A. Kievit, Marjon van Slegtenhorst, Nicholas J. Hand, Kosuke Izumi, Paula Jorge, Andrew C. Edmondson, Elisa De Franco, Linlea Armstrong, Michael E. March, Dirk Lefeber, Hans van Bokhoven, Miao He, Sian Ellard, Marina P Hommersom, Serwet Demirdas, Elaine H. Zackai, Fleur S van Dijk, Anna Lehman, Avni Santani, Daniel L. Polla, Daniel J. Rader, Arjan P.M. de Brouwer, Sandrine Duvet, Xin Bi, Sophie C. Huffels, Dmitriy Niyazov, Céline Schulz
المساهمون: Clinical Genetics, Repositório da Universidade de Lisboa
المصدر: American Journal of Human Genetics, 108(7), 1342-1349. Cell Press
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
American Journal of Human Genetics, 108, 7, pp. 1342-1349
American Journal of Human Genetics, 108, 1342-1349
Am J Hum Genetمصطلحات موضوعية: Male, Glycosylation, Mouse, Developmental Disabilities, Endoplasmic Reticulum, Compound heterozygosity, chemistry.chemical_compound, Congenital Disorders of Glycosylation, 0302 clinical medicine, EIF2AK3, Child, Genetics (clinical), Exome sequencing, 0303 health sciences, Tunicamycin, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Pedigree, Mannosidase, Child, Preschool, N-glycan, Female, Adolescent, Biology, Cell Line, 03 medical and health sciences, Polysaccharides, alpha-Mannosidase, Intellectual Disability, Report, Genetics, medicine, Humans, Proteostasis Deficiencies, Gene, Alleles, Glycoproteins, 030304 developmental biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Endoplasmic reticulum, Calcium-Binding Proteins, Infant, medicine.disease, Molecular biology, carbohydrates (lipids), Dysmorphism, chemistry, Mutation, Unfolded protein response, High-mannose, CDG, EDEM3, Congenital disorder of glycosylation, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9de7e535ef91859e8db4ea8ac1e4f021
https://doi.org/10.1016/j.ajhg.2021.05.010 -
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المؤلفون: Grazia M.S. Mancini, Kathleen Romijn, Alice S. Brooks, Hennie T. Brüggenwirth, Marjon van Slegtenhorst, Ingrid M.B.H. van de Laar, Lutgarde C.P. Govaerts, Joan N.R. Kromosoeto, Malgorzata I. Srebniak, Robert-Jan H. Galjaard, Marike Polak, Diane Van Opstal, Attie T.J.I. Go, Yolande van Bever, Lies H. Hoefsloot, Marieke Joosten, Martina Wilke, Maarten F. C. M. Knapen, Karin E. M. Diderich
المساهمون: Clinical Genetics, Research Methods and Techniques, Obstetrics & Gynecology
المصدر: Acta Obstetricia et Gynecologica Scandinavica, 100(6), 1-10. Wiley-Blackwell
Acta Obstetricia et Gynecologica Scandinavicaمصطلحات موضوعية: Adult, medicine.medical_specialty, Microarray, Genetic counseling, Chromosome Disorders, Prenatal diagnosis, Ultrasonography, Prenatal, whole exome sequencing, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, Exome Sequencing, ultrasound anomalies, medicine, Humans, Abnormalities, Multiple, Genetic Testing, Original Research Article, fetal anomalies, 030212 general & internal medicine, Exome, Exome sequencing, Retrospective Studies, prenatal whole exome sequencing testing, Fetus, 030219 obstetrics & reproductive medicine, Obstetrics, business.industry, Genetic disorder, Obstetrics and Gynecology, Retrospective cohort study, General Medicine, medicine.disease, Fetal Diseases, diagnostic yield, Female, business
وصف الملف: application/pdf
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المؤلفون: Fernanda Sarquis Jehee, Madelief Overes, Siulan Vendramini-Pittoli, Cristiano Tonello, Rejane A.C. Monteiro, Roseli Maria Zechi-Ceide, Juliana F. Mazzeu, Roza Ali-Amin, Nancy Mizue Kokitsu-Nakata, Antonio Richieri-Costa, Rosana Maria Candido-Souza, Lies H. Hoefsloot, Marjon van Slegtenhorst, Mariana Lacerda de Freitas
المساهمون: Clinical Genetics
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
American Journal of Medical Genetics Part A. Wiley-Liss Inc.مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, ANORMALIDADES CRANIOFACIAIS, Oral cleft, business.industry, 030105 genetics & heredity, Semilobar holoprosencephaly, medicine.disease, Encephalocele, 03 medical and health sciences, 030104 developmental biology, Holoprosencephaly, Bilateral cleft lip, Genetics, medicine, Craniofacial, Agenesis of the corpus callosum, business, Genetics (clinical), Exome sequencing
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المؤلفون: Frans W. Verheijen, Robert M. Verdijk, Leontine van Unen, Ramanujan S. Hegde, Henriette ter Heide, Annette F. Baas, Herma C. van der Linde, Aida M. Bertoli-Avella, David Hassel, Marja W. Wessels, Judith M.A. Verhagen, Robert M.W. Hofstra, Peter G. J. Nikkels, Marjon van Slegtenhorst, Maryann H. Kivlen, Tjakko J. van Ham, Lennie van Osch-Gevers, Johanna C. Herkert, Ingrid M.B.H. van de Laar, Marianne Hoogeveen-Westerveld, Peter M. van Hasselt, Myrthe van den Born
المساهمون: Vrije Universiteit Amsterdam [Amsterdam] (VU), VU University Medical Center [Amsterdam], Architecture et réactivité de l'ARN (ARN), Centre National de la Recherche Scientifique (CNRS)-Université Louis Pasteur - Strasbourg I, Architecture et Réactivité de l'ARN (ARN), Institut de biologie moléculaire et cellulaire (IBMC), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Department of Clinical Genetics, Service de Biopathologie [CHRU Montpellier], Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of Duisbourg-Essen, UF Neurométabolique Bioclinique et Génétique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Clinical Genetics, Pathology, Pediatrics, Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Reproduction & Development (AR&D), Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Human genetics, Functional Genomics, Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
المصدر: Neurology, 92, 11, pp. e1225-e1237
Circulation. Genomic and Precision Medicine
Neurology
Neurology, American Academy of Neurology, 2019, 92 (11), pp.e1225. ⟨10.1212/WNL.0000000000007098⟩
Circ Genom Precis Med
Circulation-Genomic and Precision Medicine, 12(9), 397-406. Lippincott Williams & Wilkins
Neurology, 92(11), E1225-E1237. Lippincott Williams and Wilkins
van der Knaap, M S, Bugiani, M, Mendes, M I, Riley, L G, Smith, D E C, Rudinger-Thirion, J, Frugier, M, Breur, M, Crawford, J, van Gaalen, J, Schouten, M, Willems, M, Waisfisz, Q, Mau-Them, F T, Rodenburg, R J, Taft, R J, Keren, B, Christodoulou, J, Depienne, C, Simons, C, Salomons, G S & Mochel, F 2019, ' Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy ', Neurology, vol. 92, no. 11, pp. E1225-E1237 . https://doi.org/10.1212/WNL.0000000000007098
Neurology, 92, e1225-e1237
Neurology, 92(11), E1225-E1237. American Academy of Neurology
Circulation. Genomic and precision medicine, 12(9), 397. Lippincott Williams and Wilkins Ltd.
Circulation. Genomic and precision medicine, 12(9), 397-406. LIPPINCOTT WILLIAMS & WILKINS
Van Der Knaap, M S, Bugiani, M, Mendes, M I, Riley, L G, Smith, D E C, Rudinger-Thirion, J, Frugier, M, Breur, M, Crawford, J, Van Gaalen, J, Schouten, M, Willems, M, Waisfisz, Q, Mau-Them, F T, Rodenburg, R J, Taft, R J, Keren, B, Christodoulou, J, Depienne, C, Simons, C, Salomons, G S & Mochel, F 2019, ' Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy ', Neurology, vol. 92, no. 11, pp. E1225-E1237 . https://doi.org/10.1212/WNL.0000000000007098مصطلحات موضوعية: 0301 basic medicine, Lysine-tRNA Ligase, Male, Pathology, Magnetic Resonance Spectroscopy, Medizin, membrane proteins, 030204 cardiovascular system & hematology, Mitochondrion, Deafness, medicine.disease_cause, Compound heterozygosity, Corrections, Leukoencephalopathy, Myelin, 0302 clinical medicine, Cytosol, Leukoencephalopathies, 030212 general & internal medicine, Ovarian Diseases, Transfer RNA Aminoacylation, Child, Zebrafish, MUTATION, Exome sequencing, Mutation, Brain, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Magnetic Resonance Imaging, Mitochondria, Protein Transport, endoplasmic reticulum, medicine.anatomical_structure, Child, Preschool, Transfer RNA, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Biological Assay, Female, WRB, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, cardiomyopathies, medicine.medical_specialty, Mitochondrial disease, Aminoacylation, Muscle disorder, Biology, Article, MEDIATES INSERTION, Amino Acyl-tRNA Synthetases, 03 medical and health sciences, SDG 3 - Good Health and Well-being, medicine, Animals, Point Mutation, Humans, Amino Acid Sequence, Allele, Alleles, COMPLEX, Genetic heterogeneity, business.industry, Arsenite Transporting ATPases, Leukodystrophy, Genetic Variation, Original Articles, Zebrafish Proteins, biology.organism_classification, DILATED CARDIOMYOPATHY, medicine.disease, zebrafish, GENE, Molecular biology, Disease Models, Animal, 030104 developmental biology, Membrane protein, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurology (clinical), MEMBRANE, business, Sequence Alignment, 030217 neurology & neurosurgery, exome
وصف الملف: application/pdf; text/plain; image/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bca7f4ec7227c83a492cdb19e343058
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85062888821&origin=inward -
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المؤلفون: George J. G. Ruijter, Debby M.E.I. Hellebrekers, Kyra E. Stuurman, Maria Eleftheriadou, Yolande van Bever, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Evita Medici-van den Herik
المساهمون: Clinical Genetics, Neurology, Erasmus MC other, MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output
المصدر: Molecular Genetics and Genomic Medicine, 9(2):e1595. John Wiley & Sons Inc.
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, 9(2):e1595. Wiley
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)مصطلحات موضوعية: 0301 basic medicine, Proband, INBORN-ERRORS, CHILDREN, QH426-470, 030105 genetics & heredity, Bioinformatics, Acyl-CoA Dehydrogenase, whole exome sequencing, follow-up, Medicine, tandem mass-spectrometry, Child, genotype‐phenotype correlation, Genetics (clinical), Exome sequencing, Clinical Report, ENCEPHALOPATHY, Hypotonia, Phenotype, Speech delay, Failure to thrive, Female, medicine.symptom, Oxidoreductases Acting on CH-CH Group Donors, DISORDERS, autism, genotype-phenotype correlation, ACAD8, Asymptomatic, Clinical Reports, 03 medical and health sciences, Exome Sequencing, Genetics, Humans, Autistic Disorder, Amino Acid Metabolism, Inborn Errors, Molecular Biology, Isobutyryl-CoA Dehydrogenase Deficiency, IDENTIFICATION, business.industry, MUTATIONS, carnitine, isobutyryl-CoA dehydrogenase deficiency, medicine.disease, 030104 developmental biology, Mutation, Autism, isobutyryl‐CoA dehydrogenase deficiency, business
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المؤلفون: Grace J. Noh, Marjon van Slegtenhorst, Ingrid M.B.H. van de Laar, Lisa Ohden, Joshua L. Deignan, Jane Juusola, Naghmeh Dorrani, Katherine Agre, Anne Gregor, Vidya Krishnamurthy, Arif B. Ekici, Julian A. Martinez-Agosto, Vimla Aggarwal, T. Niroshi Senaratne, Seema R. Lalani, Antje Wiesener, Stella A. de Man, Mahshid S. Azamian, Marina S. Dutra-Clarke, Jill A. Rosenfeld, Ahna M. Neustadt, Daryl A. Scott, Brent L. Fogel, Stanley F. Nelson, Ghayda M. Mirzaa, Irma van de Beek, Kirsty McWalter, Wayne W. Grody, Rachel Straussberg, Ralitza H. Gavrilova, Hane Lee, Anna Fliedner, Quinten Waisfisz, Mieke M. van Haelst, Jessica Kianmahd, Fabiola Quintero-Rivera, Marina Dutra-Clarke, Rony Cohen, Laura Davis-Keppen, Anna Alkelai, Christiane Zweier, Fan Xia, Brooke Horist, Philipp Kirchner, Sung-Hae Kang, Franceska L. Hinkamp, Natalie Lippa, Valerie A. Arboleda
المساهمون: Human Genetics, Clinical Genetics, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Fliedner, A, Kirchner, P, Wiesener, A, van de Beek, I, Waisfisz, Q, van Haelst, M, Scott, D A, Lalani, S R, Rosenfeld, J A, Azamian, M S, Xia, F, Dutra-Clarke, M, Martinez-Agosto, J A, Lee, H, Noh, G J, Lippa, N, Alkelai, A, Aggarwal, V, Agre, K E, Gavrilova, R, Mirzaa, G M, Straussberg, R, Cohen, R, Horist, B, Krishnamurthy, V, McWalter, K, Juusola, J, Davis-Keppen, L, Ohden, L, van Slegtenhorst, M, de Man, S A, Ekici, A B, Gregor, A, van de Laar, I, Zweier, C & UCLA Clinical Genomics Center 2020, ' Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing ', American journal of human genetics, vol. 107, no. 3, pp. 544-554 . https://doi.org/10.1016/j.ajhg.2020.06.019
American journal of human genetics, 107(3), 544-554. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 107(3), 544-554. Cell Pressمصطلحات موضوعية: Male, Heterozygote, RNA polymerase II, Biology, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Transcription (biology), Report, Exome Sequencing, Genetics, medicine, Animals, Humans, RNA, Messenger, RNA Processing, Post-Transcriptional, Child, Gene, Genetics (clinical), Exome sequencing, 030304 developmental biology, seizures, 0303 health sciences, Gene knockdown, Serine-Arginine Splicing Factors, Genetic Variation, SCAF4, medicine.disease, Phenotype, neurodevelopmental disorder, Drosophila melanogaster, Neurodevelopmental Disorders, intellectual disability, Gene Knockdown Techniques, RNA splicing, Mutation, biology.protein, epilepsy, Female, RNA Polymerase II, mRNA processing, 030217 neurology & neurosurgery, Locomotion
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9417770654c6a8fcc91fcdc725972c10
https://research.vumc.nl/en/publications/f7f8dc41-7e52-465b-b68c-c1218ff2d478 -
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المؤلفون: Nuzhat Rana, Edwin H. Jacobs, Ehsan Ghayoor Karimiani, Amber Begtrup, Jozef Hertecant, Evita Medici-van den Herik, Mohammad Doosti, Gouri Rao Passi, Mohammadreza Dehghani, Tjakko J. van Ham, Mariya Kozenko, Laila AlQuait, Mohammad Yahya Vahidi Mehrjardi, Dilek Colak, Herma C. van der Linde, Henry Houlden, Eleonora Aronica, Huma Arshad Cheema, Jennefer N. Kohler, Namik Kaya, Krishna Kumar Kandaswamy, Salem Alwadaee, Maysoon Alsagob, Woutje M. Berdowski, Zaynab Khazaei, Renjith Mani, Faisal Al Azri, Amna Al Futaisi, Stephanie Efthymiou, Majid Mojarrad, Aida M. Bertoli-Avella, Murat Gunel, Tahsin Stefan Barakat, Wilfred F. J. van IJcken, Kristin G. Monaghan, Rebecca I. Torene, Atieh Eslahi, Fathiya Al Murshedi, Khalid Awartani, Peter Bauer, Muddathir H. Hamad, Kyle Retterer, Reza Maroofian, Rawan Almass, Erik-Jan Kamsteeg, Serdar Coskun, Jonathan A. Bernstein, Elena Perenthaler, Anita Nikoncuk, Mohammed A. AlMuhaizea, Jana Vandrovcova, Anas M. Dababo, Soheil Yousefi, Fateme Massinaei Darmiyan, Mustafa A. Salih, Lauren Brick, A. Gulhan Ercan-Sencicek, Futwan Al-Mohanna, Ivan Čapo, Faisal Zafar, Khaled O. Alahmadi, Marjon van Slegtenhorst, Walter G. de Valk, Mazhor Al-Dosary, Wafa Qubbaj, Alice S. Brooks, Mehrnaz Ghazvini, Paul van den Berg, Darija Putar
المساهمون: Clinical Genetics, Cell biology, Neurology, Pathology, ANS - Cellular & Molecular Mechanisms, APH - Aging & Later Life, APH - Mental Health
المصدر: Acta Neuropathologica, 139(3), 415-442. Springer-Verlag
Acta Neuropathologica, 139, 3, pp. 415-442
Acta Neuropathologica
Acta neuropathologica, 139(3), 415-442. Springer Verlag
Acta Neuropathologica, 139, 415-442مصطلحات موضوعية: Gene isoform, Protein isoform, Male, Microcephaly, Recurrent mutation, UTP-Glucose-1-Phosphate Uridylyltransferase, UGP2, medicine.disease_cause, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, epileptic encephalopathy, ATG mutations, start-loss mutation, genetics, whole exome sequencing, microcephaly, recurrent mutation, founder mutation, essential gene, medicine, Genetics, Missense mutation, Animals, Humans, Allele, Founder mutation, Zebrafish, Exome sequencing, 030304 developmental biology, 0303 health sciences, Mutation, Original Paper, Brain Diseases, Genes, Essential, biology, Epileptic encephalopathy, Whole exome sequencing, Infant, biology.organism_classification, medicine.disease, 3. Good health, Pedigree, Start-loss mutation, Essential gene, Child, Preschool, Female, Neurology (clinical), Epileptic Syndromes, 030217 neurology & neurosurgery
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