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 Scandinavica

مصطلحات 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

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https://hdl.handle.net/1765/132863

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.0000000000007098

مصطلحات 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

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