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Clinical Genetics|October 17, 2022
De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophySara Pini, Floriana Maria Napoli, Enrico Tagliafico, et al.Clinical Genetics|October 18, 2022
Immunotherapy responsive neuroinflammation in a child with FAS-associated death-domain mutationBenjamin Vogel, Natalie K Boyd, Caroline Y Kuo, et al.Clinical Genetics|September 11, 2022
A systematic review of the monogenic causes of Non-Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment optionsNandita Sharma, Divya Kumari, Inusha Panigrahi, et al.Clinical Genetics|June 1, 1987
Deletion of the short arm of chromosome 20A M Vianna-Morgante, A Richieri-Costa, C RosenbergClinical Genetics|July 1, 1987
Non-mosaic isodicentric X-chromosome in a patient with secondary amenorrheaG Ponzio, F Chiodo, M Messina, et al.Clinical Genetics|July 1, 1987
An aminopterin-like syndrome without aminopterin (ASSAS)F C Fraser, R A Anderson, J I Mulvihill, et al.Clinical Genetics|September 1, 1987
Severity and recurrence risk of congenital heart defects exemplified by atrial septal defect secundumR J Gold, V Rose, Y YauClinical Genetics|September 1, 1987
The ulnar-mammary syndrome: an autosomal dominant pleiotropic geneA Schinzel, R Illig, A PraderClinical Genetics|December 20, 2014
mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal developmentJ Steffann, S Monnot, J-P BonnefontClinical Genetics|October 1, 1989
Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblastsG H Thomas, J Scocca, C S Miller, et al.Pageof 719