-
1
المؤلفون: Charles E. Schwartz, Claude Moraine, Michael R. Stratton, Darien Lugtenberg, Ben C.J. Hamel, Jozef Gecz, Astrid R. Oudakker, Hans-Hilger Ropers, Reinhard Ullmann, Ralph Pfundt, Annabel Whibley, Jeroen Knijnenburg, Susanne Kjaergaard, Janneke H M Schuurs-Hoeijmakers, Luiz Zangrande-Vieira, Carla Rosenberg, Jayne Y. Hehir-Kwa, Mariken Ruiter, Fernanda Sarquis Jehee, Joris A. Veltman, Jamel Chelly, Arjan P.M. de Brouwer, Hans van Bokhoven, Guido Froyen, Maria Kirchhoff, F. Lucy Raymond, Tjitske Kleefstra, Angela Maria Vianna-Morgante, Sarina G. Kant, Terry Vrijenhoek
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
American Journal of Medical Genetics Part A, 152A(3), 638-645
American Journal of Medical Genetics. Part A, 152A, 3, pp. 638-45
American Journal of Medical Genetics. Part A, 152A, 638-45مصطلحات موضوعية: Male, RETARDO MENTAL, Genetics and epigenetic pathways of disease [NCMLS 6], Gene Dosage, Non-allelic homologous recombination, Biology, Gene dosage, Cohort Studies, Genomic disorders and inherited multi-system disorders [IGMD 3], mental retardation ZNF630 non-allelic homologous recombination Xp11 zinc finger cluster copy number variation array-cgh gene mutations genome mouse children regions pcr, Gene Duplication, Intellectual Disability, Gene cluster, Gene duplication, Genetics, medicine, Humans, Copy-number variation, Genetics (clinical), Segmental duplication, Recombination, Genetic, Chromosomes, Human, X, Comparative Genomic Hybridization, Breakpoint, Chromosome Mapping, medicine.disease, Pedigree, Repressor Proteins, Developmental disorder, Phenotype, Case-Control Studies, Mental Retardation, X-Linked, Female, Functional Neurogenomics [DCN 2], Gene Deletion
وصف الملف: application/pdf
-
2Academic Journal
المؤلفون: Dorien Lugtenberg, Luiz Zangrande-Vieira, Maria Kirchhoff, Annabel C Whibley, Astrid R Oudakker, Susanne Kjaergaard, Angela M Vianna-Morgante, Tjitske Kleefstra, Mariken Ruiter, Fernanda S Jehee, Reinhard Ullmann, Charles E Schwartz, Michael Stratton, F Lucy Raymond, Joris A Veltman, Terry Vrijenhoek, Rolph Pfundt, Janneke H M Schuurs-Hoeijmakers, Jayne Y Hehir-Kwa, Guy Froyen, Jamel Chelly, Hans Hilger Ropers, Claude Moraine, Jozef G Ecz, Jeroen Knijnenburg, Sarina G Kant, Ben C J Hamel, Carla Rosenberg, Hans Van Bokhoven, Arjan P M De Brouwer, Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley Ac, Oudakker Ar, Kjaergaard S, Vianna-Morgante Am, Kleefstra T, Ruiter M, Jehee Fs, Ullmann R, Schwartz Ce, Stratton M, Raymond Fl, Veltman Ja, Pfundt R Vrijenhoek T, Schuurs-Hoeijmakers Jhm, Hehir-Kwa Jy, Froyen G, Chelly J, Ropers Hh, Moraine C, G Ecz J, Knijnenburg J, Kant Sg, Hamel Bcj, Rosenberg C Van Bokhoven, Ph.D Arjan P M De Brouwer
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1049.6422; http://genoma.ib.usp.br/sites/default/files/publicacoes/recurrent_deletion_of_znf630.pdf