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1دورية أكاديمية
المؤلفون: Johanne Dubail, Céline Huber, Sandrine Chantepie, Stephan Sonntag, Beyhan Tüysüz, Ercan Mihci, Christopher T. Gordon, Elisabeth Steichen-Gersdorf, Jeanne Amiel, Banu Nur, Irene Stolte-Dijkstra, Albertien M. van Eerde, Koen L. van Gassen, Corstiaan C. Breugem, Alexander Stegmann, Caroline Lekszas, Reza Maroofian, Ehsan Ghayoor Karimiani, Arnaud Bruneel, Nathalie Seta, Arnold Munnich, Dulce Papy-Garcia, Muriel De La Dure-Molla, Valérie Cormier-Daire
المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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المؤلفون: Fleur Vansenne, Johanna M. Fock, Irene Stolte-Dijkstra, Linda C. Meiners, Marie-Jose H. van den Boogaard, Bregje Jaeger, Ludolf Boven, Yvonne J. Vos, Richard J. Sinke, Dineke S. Verbeek
المساهمون: Movement Disorder (MD), Molecular Neuroscience and Ageing Research (MOLAR), Neurology, Paediatric Neurology
المصدر: European Journal of Paediatric Neurology, 41, 91-98. ELSEVIER SCI LTD
European Journal of Paediatric Neurology, 41, 91-98. W.B. Saunders Ltd
European journal of paediatric neurology : EJPN, 41, 91-98. W.B. Saunders Ltdمصطلحات موضوعية: Homozygote, Vesicular Transport Proteins, Autophagy-Related Proteins, Attenuated phenotype, General Medicine, Vici syndrome, Cataract, Corpus Callosum, EPG5, Phenotype, Brain MRI, Pediatrics, Perinatology and Child Health, Humans, Neurology (clinical)
وصف الملف: application/pdf
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المؤلفون: Noriko Miyake, Tsutomu Ogata, Irene Stolte-Dijkstra, Dimitra Micha, Cas Simons, Zoya Kingsbury, Annette Bley, Alex Conant, Bryan R. Lajoie, Ferdy K. Cayami, Dennis Lal, Amy Pizzino, Andrea Superti-Furga, Bernd A. Neubauer, Shihoko Kimura-Ohba, Deborah A Sival, Stephen J. Bent, Andreas Hahn, Sean Humphray, Ryan J. Taft, Adeline Vanderver, Nicole I. Wolf, Karen W. Gripp, Naomichi Matsumoto, Joanna Crawford, Nicole Ulrick, Keiichi Ozono, Dorothy I. Bulas, Richard J. Sinke
المساهمون: Movement Disorder (MD), Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pediatric surgery, Human genetics, AMS - Trauma and Reconstruction, AMS - Growth and Development, ACS - Microcirculation, ACS - Atherosclerosis & ischemic syndromes
المصدر: Neurogenetics
Neurogenetics, 18(4), 185-194. SPRINGER
Miyake, N, Wolf, N I, Cayami, F K, Crawford, J, Bley, A, Bulas, D, Conant, A, Bent, S J, Gripp, K W, Hahn, A, Humphray, S, Kimura-Ohba, S, Kingsbury, Z, Lajoie, B R, Lal, D, Micha, D, Pizzino, A, Sinke, R J, Sival, D, Stolte-Dijkstra, I, Superti-Furga, A, Ulrick, N, Taft, R J, Ogata, T, Ozono, K, Matsumoto, N, Neubauer, B A, Simons, C & Vanderver, A 2017, ' X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 ', Neurogenetics, vol. 18, no. 4, pp. 185-194 . https://doi.org/10.1007/s10048-017-0520-x
Neurogenetics, 18(4), 185-194. Springer Verlag
Neurogenetics, vol. 18, no. 4, pp. 185-194مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Spondylometaphyseal dysplasia, VARIANTS, PHENOTYPE, Exon, Dysarthria, 0302 clinical medicine, Genes, X-Linked, Mitochondrial leukodystrophy, MINERALIZATION, Genetics (clinical), Myelin Sheath, Genetics, Apoptosis Inducing Factor, Phenotype, Pedigree, Myelin, Original Article, medicine.symptom, Hypomyelination, Retinopathy, Whole exome sequencing (WES), medicine.medical_specialty, Ataxia, Hearing loss, DISORDERS, LEUKODYSTROPHIES, Biology, Osteochondrodysplasias, CHONDRODYSPLASIA, 03 medical and health sciences, Cellular and Molecular Neuroscience, Intellectual Disability, APOPTOSIS-INDUCING FACTOR, medicine, Humans, Genetic Predisposition to Disease, Spasticity, AIFM1 gene, SPECTRUM, NEUROPATHY, Sequence Analysis, DNA, medicine.disease, Human genetics, 030104 developmental biology, Mutation, 030217 neurology & neurosurgery, MENTAL-RETARDATION
وصف الملف: application/pdf
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المؤلفون: Fiona Haslam McKenzie, Wouter Steyaert, Marije Koopmans, Banu Güzel Nur, Paul Coucke, Bert Callewaert, Siren Berland, Anita Rauch, Ilse Meerschaut, Florence Petit, Emma Wakeling, Edward Blair, Kathelijn Keymolen, Bernadette C. Hanna, Pascale Ribai, Shana De Coninck, Isabelle Migeotte, Frank Plasschaert, Vinod Varghese, Carina Wallgren-Pettersson, Andrew Green, Melissa Lees, Damien Lederer, Anne De Paepe, Angela Barnicoat, Irene Stolte-Dijkstra, Juliette Piard, Irene Valenzuela, Anna de Burca, Jeroen Breckpot, Franco Stanzial, Sally Ann Lynch, Iratxe Salcedo Pacheco, Ercan Mihci, Alison Male, Pradeep Vasudevan, Daniël De Wolf, Francesco Benedicenti, Cheryl Longman, Allan Bayat, Sixto García-Miñaur, Sofie Symoens, Anne Destree
المساهمون: Medical Genetics, Pediatrics
المصدر: Genetics in medicine
Genetics in Medicine, 22(1), 124-131. Nature Publishing Groupمصطلحات موضوعية: Male, Marfan syndrome, Proband, DISORDER, medicine.medical_specialty, Contracture, FIBRILLIN, PATHOGENESIS, Medical laboratory, PROBANDS, Sensitivity and Specificity, Marfan Syndrome, Diagnosis, Differential, congenital contractural arachnodactyly, 03 medical and health sciences, Arachnodactyly, Locus heterogeneity, Internal medicine, medicine, Humans, Genetics(clinical), FBN2 MUTATIONS, Genetic Testing, Congenital contractural arachnodactyly, Child, Kyphoscoliosis, fibrillin-2, Genetics (clinical), Retrospective Studies, 030304 developmental biology, 0303 health sciences, business.industry, DILATATION, 030305 genetics & heredity, Retrospective cohort study, clinical score, Sequence Analysis, DNA, Sciences bio-médicales et agricoles, medicine.disease, MARFAN-SYNDROME, 3. Good health, DELINEATION, Early Diagnosis, Phenotype, diagnostic criteria, Beals syndrome, Female, business
وصف الملف: 1 full-text file(s): application/pdf; application/pdf
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المؤلفون: Luis Rodrigo, Hernandez-Miranda, Daniel M, Ibrahim, Pierre-Louis, Ruffault, Madeleine, Larrosa, Kira, Balueva, Thomas, Müller, Willemien de, Weerd, Irene, Stolte-Dijkstra, Robert M W, Hostra, Jean-François, Brunet, Gilles, Fortin, Stefan, Mundlos, Carmen, Birchmeier
المصدر: Proceedings of the National Academy of Sciences of the United States of America
مصطلحات موضوعية: Male, Muscle Proteins, neuronal fate change, Mice, congenital hypoventilation, Animals, Humans, Frameshift Mutation, Cells, Cultured, Homeodomain Proteins, Mice, Knockout, Neurons, Whole Genome Sequencing, Respiration, LBX1/Lbx1, Hypoventilation, Biological Sciences, transcriptional cooperativity, Sleep Apnea, Central, Pedigree, Phox2b, Animals, Newborn, Female, Genome-Wide Association Study, Transcription Factors, Developmental Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::4c76411ef372831b1a6c712204622864
https://pubmed.ncbi.nlm.nih.gov/30487221 -
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المؤلفون: Eniko K. Pivnick, Uwe Kornak, Asim F. Choudhri, Leila Pajunen, Camilo E. Villarroel, Paulina Bahena, Stephen P. Robertson, Abigail Loh, Graham D. Wright, Bert Callewaert, Stefan Mundlos, Sara L. Reichert, Irene Stolte-Dijkstra, Nathalie Escande-Beillard, David Meierhofer, Tomasz Zemojtel, Conny M. A. van Ravenswaaij-Arts, Roya Mostafavi, Peter N. Robinson, Mohammed Al Bughaili, Peter H. Byers, Bruno Reversade, Angela E. Lin, Amira Masri, Elisa Rahikkala, Ulrike Schwarze, Inderneel Sahai, Ulrike Krüger, Björn Fischer-Zirnsak, Jaya Ganesh, Jaron Liu, Sofie Symoens, Yu Xuan Tan, Lihadh Al-Gazali
المساهمون: Center for Reproductive Medicine, Clinical Cognitive Neuropsychiatry Research Program (CCNP)
المصدر: The American Journal of Human Genetics
American journal of human genetics, 97(3), 483-492. Cell Press
American Journal of Human Genetics, 97(3), 483-492. CELL PRESSمصطلحات موضوعية: BARSY-SYNDROME, Mutant, cutis laxa, PHENOTYPE, DISEASE, Corneal Opacity, De Barsy syndrome, proline metabolism, Genetics(clinical), Peptide sequence, Genetics (clinical), Genes, Dominant, Skin, Genetics, chemistry.chemical_classification, ENCODING DELTA(1)-PYRROLINE-5-CARBOXYLATE SYNTHASE, ALDH18A1, Ornithine-Oxo-Acid Transaminase, ARTERIAL-TORTUOSITY-SYNDROME, Phenotype, Pedigree, Amino acid, mitochondria, OSTEODYSPLASTICA, Proline, Molecular Sequence Data, Mutation, Missense, Biology, Species Specificity, Report, Intellectual Disability, medicine, Humans, TROPOELASTIN, Amino Acid Sequence, progeroid syndrome, Gene, Base Sequence, P5CS, Sequence Analysis, DNA, pyrroline-5-carboxylate synthase, medicine.disease, GENE, PYCR1, PYCR1 MUTATIONS, chemistry, Sequence Alignment, Wrinkly skin syndrome, Cutis laxa
وصف الملف: application/pdf
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7Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility
المؤلفون: Irene Stolte-Dijkstra, Eamonn R. Maher, John M. Opitz, Ger J. M. Pruijn, Harmeet Gill, Trevor Cole, Giovanni Neri, Patrick Rump, Mark R. Morris, Farida Latif, Salwati Shuib, Dean Gentle, Anthonie J. van Essen, Dewi Astuti, Raymond H.J. Staals, Wendy N. Cooper, Naomi C. Wake, Graham A Fews, Christopher J. Ricketts, Richard A. van Lingen, Ferenc Müller
المصدر: Nature Genetics, 44(3), 277-U75. Nature Publishing Group
Nature Genetics, 44, 277-284
Nature Genetics, 44, 3, pp. 277-284مصطلحات موضوعية: Settore MED/03 - GENETICA MEDICA, medicine.disease_cause, HAMARTOMAS, Germline, Fetal Macrosomia, Perlman syndrome, SISTER-CHROMATID SEPARATION, Genetics, Mutation, Bio-Molecular Chemistry, Kidney Neoplasms, MULTIPLE CONGENITAL-ANOMALIES, Child, Preschool, Chromosomes, Human, Pair 2, Gene Knockdown Techniques, RIBOSOMAL-RNA, Exoribonuclease activity, Cell Division, Adolescent, Molecular Sequence Data, RNA DEGRADATION, Biology, Wilms Tumor, EXOSOME, Germline mutation, NEPHROBLASTOMATOSIS, medicine, Humans, Genetic Predisposition to Disease, Mitosis, Germ-Line Mutation, FAMILIAL RENAL DYSPLASIA, Cell Proliferation, Base Sequence, 2Q37, Infant, Newborn, Infant, Wilms' tumor, Sequence Analysis, DNA, medicine.disease, Molecular biology, Genes, cdc, Gene Expression Regulation, FETAL GIGANTISM, Overgrowth syndrome, Exoribonucleases, RNA, DIS3L2, HeLa Cells
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المؤلفون: Marinus J. Blok, Joep P.M. Geraedts, Thomy de Ravel, Demis Tserpelis, Aimee D C Paulussen, Raoul C.M. Hennekam, Eric Smeets, Constance T.R.M. Schrander-Stumpel, Maaike Vreeburg, Hubert J T Smeets, Irene Stolte-Dijkstra, Wilhelmina S. Kerstjens-Frederikse, Marie José H. Van Den Boogaard, J. J. P. Schrander, Grazia M.S. Mancini, Jean-Pierre Fryns, Annemieke M. A. Wagemans, Marja W. Wessels, Y. Detisch, Koenraad Devriendt, Arie van Haeringen, Alexander P.A. Stegmann, Crool Posma-Velter, Jasper J. van der Smagt
المساهمون: Amsterdam Neuroscience, Amsterdam Public Health, Paediatrics, Family Medicine, Kindergeneeskunde, RS: GROW - School for Oncology and Reproduction, Klinische Genetica, Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht]-Maastricht University [Maastricht], School for Oncology & Developmental Biology (GROW), Department of Clinical Genetics, Department of Paediatrics, Department of Medical Genetics, University Medical Center [Utrecht], Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Department of Genetics, University Medical Center Groningen [Groningen] (UMCG), Erasmus University Medical Center [Rotterdam] (Erasmus MC), Human Genetics, Erasmus University Rotterdam, Department of Pediatrics, Academic Medical Center, University of Amsterdam [Amsterdam] (UvA), Center for Human Genetics, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Clinical sciences, Medical Genetics, Pediatrics
المصدر: Human mutation, 32(2), E2018-E2025. Wiley-Liss Inc.
Human Mutation, 32(2), E2018-E2025. Wiley
Human Mutation
Human Mutation, 32(2), E2018-E2025
Human Mutation, Wiley, 2010, 32 (2), ⟨10.1002/humu.21416⟩
Human Mutation, 32(2), E2018-E2025. Wiley-Liss Inc.مصطلحات موضوعية: Male, Hematologic Diseases/genetics, Biology, medicine.disease_cause, PROTEIN LYSINE METHYLTRANSFERASES, Frameshift mutation, Exon, Neoplasm Proteins/genetics, EARS, Abnormalities, Multiple/genetics, Genetics, medicine, Missense mutation, Humans, Abnormalities, Multiple, histone methyl transferase, Epigenetics, Gene, Genetics (clinical), Mutation, Kabuki syndrome, Life Sciences, MAKE-UP-SYNDROME, Face/abnormalities, medicine.disease, Molecular biology, Hematologic Diseases, GENE, Vestibular Diseases/genetics, Neoplasm Proteins, DNA-Binding Proteins, Vestibular Diseases, KS, Histone methyltransferase, Face, MLL2, GROWTH, Female, DNA-Binding Proteins/genetics, MENTAL-RETARDATION
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المؤلفون: Heleen H. Arts, Nine V A M Knoers, Machteld M. Oud, Jan-Stephan F. Sanders, Marit Midtbø, Sabine Leh, Marie Matignon, Cécile Jeanpierre, Per M. Knappskog, Dorus A. Mans, Ronald Roepman, Ben C.J. Hamel, Irene Stolte-Dijkstra, Eric J. Steenbergen, Eyvind Rødahl, Cecilie Bredrup, Christian Gilissen, Damien Brackman, Emilie Filhol, Olav H. Haugen, Helge Boman, Rolph Pfundt, Torunn Fiskerstrand, Christine Bole-Feysot, Patrick Nitschké, Joris A. Veltman, Sophie Saunier, Alexander Hoischen
المساهمون: Groningen Kidney Center (GKC), Groningen Institute for Organ Transplantation (GIOT)
المصدر: American Journal of Human Genetics, 89, 5, pp. 634-43
American Journal of Human Genetics, 89, 634-43
The American Journal of Human Genetics; Vol 89
American Journal of Human Genetics, 89(5), 634-643. CELL PRESSمصطلحات موضوعية: Male, RIB-POLYDACTYLY SYNDROME, Genetics and epigenetic pathways of disease [NCMLS 6], PROTEIN, Ciliopathies, Craniofacial Abnormalities, Ectodermal Dysplasia, Genetics(clinical), Exome, Child, Genetics (clinical), Exome sequencing, Netherlands, Oligonucleotide Array Sequence Analysis, BARDET-BIEDL-SYNDROME, Genetics, 0303 health sciences, Polycystic Kidney Diseases, Norway, Cilium, 030305 genetics & heredity, Intracellular Signaling Peptides and Proteins, CRANIOECTODERMAL DYSPLASIA, DEFECTS, NEPHRONOPHTHISIS, 3. Good health, Pedigree, Sensenbrenner syndrome, Morocco, INTRAFLAGELLAR TRANSPORT, Flagella, Female, SENSENBRENNER-SYNDROME, Adult, Adolescent, Molecular Sequence Data, Mutation, Missense, PRIMARY CILIA, Biology, Short Rib-Polydactyly Syndrome, 03 medical and health sciences, Young Adult, Bardet–Biedl syndrome, Thoracic Diseases, Nephronophthisis, Intraflagellar transport, Translational research [ONCOL 3], Report, medicine, Humans, Cilia, 030304 developmental biology, Proteins, ASPHYXIATING THORACIC DYSTROPHY, Fibroblasts, medicine.disease, Cytoskeletal Proteins, Genetics and epigenetic pathways of disease Renal disorder [NCMLS 6], Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]
وصف الملف: application/pdf
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المؤلفون: Ben C.J. Hamel, Yvonne J. Vos, Nicolette S. den Hollander, Mariet W. Elting, Jenneke A. Stegeman, Merel C. van Maarle, Ana Maria Fortuna, Lone Sunde, Irene Stolte-Dijkstra, Hermien E. K. de Walle, Annelies M. ten Berge, Martijn Bruining, Connie Schrander-Stumpel, Robert M.W. Hofstra, Krista K. Bos
المساهمون: Faculteit der Geneeskunde, Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, Human genetics, Other Research, Human Genetics, Reproductive Origins of Adult Health and Disease (ROAHD)
المصدر: Journal of Medical Genetics, 47(3), 169-175. BMJ Publishing Group
Journal of Medical Genetics, 47, 169-75
Journal of medical genetics, 47(3), 169-175. BMJ Publishing Group
JOURNAL OF MEDICAL GENETICS, 47(3), 169-175. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 47(3), 169-75
Journal of Medical Genetics, 47, 3, pp. 169-75
Vos, Y J, de Walle, H E K, Bos, K K, Stegeman, J A, Ten Berge, A M, Bruining, M, van Maarle, M C, Elting, M W, den Hollander, N S, Hamel, B, Fortuna, A M, Sunde, L, Stolte-Dijkstra, I, Schrander-Stumpel, C T R M & Hofstra, R M W 2010, ' Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis ', Journal of Medical Genetics, vol. 47, no. 3, pp. 169-75 . https://doi.org/10.1136/jmg.2009.071688
Vos, Y J, de Walle, H E K, Bos, K K, Stegeman, J A, ten Berge, A M, Bruining, M, van Maarle, M C, Elting, M W, den Hollander, N S, Hamel, B, Fortuna, A M, Sunde, L E M, Stolte-Dijkstra, I, Schrander-Stumpel, C & Hofstra, R M W 2010, ' Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis ', Journal of Medical Genetics, vol. 47, no. 3, pp. 169-175 . https://doi.org/10.1136/jmg.2009.071688مصطلحات موضوعية: Male, Oncology, EXPRESSION, medicine.medical_specialty, Genetic counseling, DNA Mutational Analysis, Genetic Counseling, Neural Cell Adhesion Molecule L1, Germline mosaicism, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Germline mutation, MISSENSE MUTATION, Internal medicine, Genotype, Genetics, medicine, Humans, Missense mutation, L1CAM GENE, PRENATAL-DIAGNOSIS, Child, L1 syndrome, Genetic Association Studies, Germ-Line Mutation, Genetics (clinical), Base Sequence, Mosaicism, Infant, Newborn, Infant, Genetic Diseases, X-Linked, Syndrome, NEPHROGENIC DIABETES-INSIPIDUS, MASA-SYNDROME, Child, Preschool, CELL-ADHESION MOLECULE, Practice Guidelines as Topic, Mutation (genetic algorithm), COMPLICATED SPASTIC PARAPLEGIA, HIRSCHSPRUNGS-DISEASE, Mutation testing, X-LINKED HYDROCEPHALUS, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
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