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Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 934 - 940
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 03/2019, Volume 62, Issue 3, pp. 210 - 216
49,XXXXY syndrome is a rare sex chromosome aneuploidy syndrome. Cognitive impairment with expressive language deficits in combination with developmental and... 
White matter lesions | 49,XXXXY | Sex chromosome pentasomy | GENETICS & HEREDITY | BOYS | PHENOTYPE | COURSE ANDROGEN THERAPY | Birth defects | Genetic disorders | Medical genetics | Index Medicus
Journal Article
04/2019, ISBN 9783030043445, 185
eBook
Molecular Psychiatry, ISSN 1359-4184, 01/2018, Volume 24, Issue 7, pp. 1 - 13
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Journal of Medical Genetics, ISSN 0022-2593, 11/2011, Volume 48, Issue 11, pp. 741 - 751
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Genes Chromosomes and Cancer, ISSN 1045-2257, 06/2006, Volume 45, Issue 6, pp. 565 - 574
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Genetics in Medicine, ISSN 1098-3600, 01/2018, Volume 20, Issue 1, pp. 98 - 108
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American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2015, Volume 167, Issue 11, pp. 2826 - 2829
Journal Article
BMJ Open, ISSN 2044-6055, 2013, Volume 3, Issue 3, pp. e001917 - e001917
Objectives Till date, mutations in the genes PAX3 and MITF have been described in Waardenburg syndrome (WS), which is clinically characterised by congenital... 
MEDICINE, GENERAL & INTERNAL | PAX GENES | DOMAIN | SYNDROME TYPE-I | MITF GENE | BOX | TIETZ-SYNDROME | INHERITANCE | Genotype & phenotype | Transcription factors | Genes | Amino acids | Mutation | Hearing impairment | Patients | Deoxyribonucleic acid--DNA
Journal Article
Journal Article