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المؤلفون: Jill Clayton-Smith, Mariet W. Elting, Rutger A.J. Nievelstein, Linda Goodwin, Andreas Zankl, Paul Coucke, Paulien A. Terhal, Susan Price, Anne Dieux, Valérie Cormier-Daire, Eva J J Verver, Louise C. Wilson, Edward S. Tobias, Sahar Mansour, Niels Thomas Hertel, Maaike Vreeburg, Johanna C. Herkert, Emma Wakeling, Nicolette S. den Hollander, Elizabeth Thompson, Bronwyn Kerr, Marleen Simon, Nine V A M Knoers, Hanne Hove, Mohnish Suri, Tessa Homfray, Frances Elmslie, Raoul C.M. Hennekam, Muriel Holder-Espinasse, Jane A. Hurst, Sarah F. Smithson, André Mégarbané, Yasemin Alanay, Melissa Lees, Vedat Topsakal, Annick Raas-Rothschild, Marianne Rohrbach, Allan M. Lund, Barbara Schroeter, Hermine E. Veenstra-Knol, Regina C. Betz, Johanna M. van Hagen, Annick Toutain, Geert Mortier, Paula van Dommelen, Alison Male, Andrew Green, Kristien Hoornaert, Ernie M.H.F. Bongers, Annemarie H. van der Hout, Albert David, Goeran Anneren, Martine Le Merrer, Jenneke van den Ende, Esther Kinning, Carlo Marcelis
المساهمون: Surgical clinical sciences, Ear, nose & throat, Acibadem University Dspace, Clinical Genetics, Human genetics, Other Research, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Human Genetics
المصدر: American Journal of Medical Genetics. Part A, 167A, 461-75
Terhal, P A, Nievelstein, R J A J, Verver, E J J, Topsakal, V, van Dommelen, P, Hoornaert, K, Le Merrer, M, Zankl, A, Simon, M E H, Smithson, S F, Marcelis, C, Kerr, B, Clayton-Smith, J, Kinning, E, Mansour, S, Elmslie, F, Goodwin, L, van der Hout, A H, Veenstra-Knol, H E, Herkert, J C, Lund, A M, Hennekam, R C M, Megarbane, A, Lees, M M, Wilson, L C, Korteland-van Male, A, Hurst, J, Alanay, Y, Anneren, G, Betz, R C, Bongers, E M H F, Cormier-Daire, V, Dieux, A, David, A, Elting, M W, van den Ende, J, Green, A, van Hagen, J M, Hertel, N T, Holder-Espinasse, M, den Hollander, N, Homfray, T, Hove, H D, Price, S, Raas-Rothschild, A, Rohrbach, M, Schroeter, B, Suri, M, Thompson, E M, Tobias, E S, Toutain, A, Vreeburg, M, Wakeling, E, Knoers, N V, Coucke, P & Mortier, G R 2015, ' A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype ', American Journal of Medical Genetics Part A, vol. 167, no. 3, pp. 461-475 . https://doi.org/10.1002/ajmg.a.36922
American Journal of Medical Genetics Part A, 3, 167, 1-15
American journal of medical genetics : part A
American Journal of Medical Genetics. Part A, 167A(3), 461. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 167A(3), 461-475. Wiley
Terhal, P A, Nievelstein, R J A J, Verver, E J J, Topsakal, V, van Dommelen, P, Hoornaert, K, Le Merrer, M, Zankl, A, Simon, M E H, Smithson, S F, Marcelis, C, Kerr, B, Clayton-Smith, J, Kinning, E, Mansour, S, Elmslie, F, Goodwin, L, van der Hout, A H, Veenstra-Knol, H E, Herkert, J C, Lund, A M, Hennekam, R C M, Mégarbané, A, Lees, M M, Wilson, L C, Male, A, Hurst, J, Alanay, Y, Annerén, G, Betz, R C, Bongers, E M H F, Cormier-Daire, V, Dieux, A, David, A, Elting, M W, van den Ende, J, Green, A, van Hagen, J M, Hertel, N T, Holder-Espinasse, M, den Hollander, N, Homfray, T, Hove, H D, Price, S, Raas-Rothschild, A, Rohrbach, M, Schroeter, B, Suri, M, Thompson, E M, Tobias, E S, Toutain, A, Vreeburg, M, Wakeling, E, Knoers, N V, Coucke, P & Mortier, G R 2015, ' A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype ', American Journal of Medical Genetics. Part A, vol. 167, no. 3, pp. 461-475 . https://doi.org/10.1002/ajmg.a.36922
American Journal of Medical Genetics Part A, 167(3), 461-475. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 167A, 3, pp. 461-75
American Journal of Medical Genetics Part A, 167(3), 461-475
American journal of medical genetics. Part A, 167(3), 461-475. Wiley-Liss Inc.مصطلحات موضوعية: Male, Hypermetropia, DNA Mutational Analysis, Review, Gene, Osteochondrodysplasias/congenital, Spondyloepiphyseal dysplasia, Genetics(clinical), Child, SEDC, COL2A1 gene, Bronchomalacia, Atlantoaxial dislocation, Pierre Robin syndrome, Osteotomy, Scoliosis, Health, Cleft palate, Spondyloepiphyseal dysplasia congenita, II COLLAGEN, Cohort studies, Hip arthroplasty, SKELETAL DYSPLASIA, Procollagen, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], medicine.medical_specialty, COL2A1, Glycine, Major clinical study, Osteochondrodysplasias, Behavioural Changes, SDG 3 - Good Health and Well-being, Genetics, spondyloepiphyseal dysplasia, Humans, Genotype phenotype correlation, Collagen Type II, Aged, Tracheomalacia, Infant, medicine.disease, Otorhinolaryngology, DEFECT, Collagen disorder, School child, Human medicine, mutation, MYELOPATHY, Pediatrics, Amino acid substitution, Spondyloperipheral dysplasia, LS - Life Style, surgery, Tracheostomy, Serine, Myopia, Missense mutation, RETINAL-DETACHMENT, Non-U.S. Gov't, Genetics (clinical), Heterozygosity, Research Support, Non-U.S. Gov't, Odontoid Hypoplasia, Middle Aged, genotype-phenotype, Clubfoot, Phenotype, KNIEST-DYSPLASIA, young adult, Female, medicine.symptom, Collagen Type II/genetics, Healthy Living, radiography, Adult, EXPRESSION, Retina detachment, Child, preschool, Adolescent, review, Population research, Genotype-phenotype, Research Support, Short stature, Hearing impairment, Multiple epiphyseal dysplasia, Kniest dysplasia, CARTILAGE, Coxa vara, Journal Article, medicine, Gene mutation, Disease severity, Genetic Association Studies, business.industry, Gestational age, Respiratory distress, Mutational analysis, GENE, Clinical feature, Dysplasia, Aspartic acid, ELSS - Earth, Life and Social Sciences, Healthy for Life, business
وصف الملف: image/pdf; application/pdf
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المؤلفون: Margery Morgan, Pierpaolo Mastroiacovo, Lorentz M. Irgens, Adolfo Correa, Eduardo E. Castilla, Alice Maraschini, Osvaldo M. Mutchinick, Merilyn Riley, Carol Bower, Gioacchino Scarano, Giovanni Baranello, Robert Mc Donnell, Catherine De Vigan, R. Brian Lowry, Emanuele Leoncini, Bérénice Doray, Antonin Sipek, Marian K. Bakker, Miriam Gatt, Guido Cocchi, Iêda M. Orioli, Mark A. Canfield, Fabrizio Bianchi, Marcia L. Feldkamp, Romano Tenconi, Goeran Anneren, Simone Poetzsch, Annukka Ritvanen, Elisabeth Robert Gnansia
المساهمون: Methods in Medicines evaluation & Outcomes research (M2O), Reproductive Origins of Adult Health and Disease (ROAHD)
المصدر: Birth Defects Research. Part A: Clinical and Molecular Teratology, 82(8), 585-591. Wiley-Blackwell
مصطلحات موضوعية: ANOMALIES, Embryology, Pediatrics, medicine.medical_specialty, International Cooperation, Population, prevalence, CALIFORNIA, ENGLAND, Prenatal diagnosis, brain malformations, Congenital Abnormalities, Holoprosencephaly, Pregnancy, Epidemiology, medicine, Humans, EPIDEMIOLOGY, MALFORMATIONS, Registries, NETWORK, PRENATAL-DIAGNOSIS, education, education.field_of_study, business.industry, Australia, General Medicine, Stillbirth, medicine.disease, Europe, holoprosencephaly, Population Surveillance, Pediatrics, Perinatology and Child Health, Etiology, Female, Americas, business, ICBDSR, Live Birth, Developmental Biology, Demography
