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Human Molecular Genetics|June 1, 1992
Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS geneM L Steén-Bondeson, N Dahl, T Tönnesen, et al.Human Molecular Genetics|January 1, 1996
Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb regionL J Hu, J Laporte, W Kress, et al.Human Heredity|May 1, 1995
Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1M A Pericak-Vance, D F Barker, J A Bergoffen, et al.Journal of Internal Medicine|June 3, 2008
Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutationsG Carlsson, I van't Hooft, M Melin, et al.Current Biology : CB|January 28, 2020
Osmotic Gradients in Epithelial Acini Increase Mechanical Tension across E-cadherin, Drive Morphogenesis, and Maintain HomeostasisVani Narayanan, Laurel E Schappell, Carl R Mayer, et al.Genomics|July 1, 1991
Linkage homogeneity near the fragile X locus in normal and fragile X familiesG K Suthers, J C Mulley, M A Voelckel, et al.American Journal of Human Genetics|March 1, 1991
Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndromeG K Suthers, J C Mulley, M A Voelckel, et al.Nature Genetics|February 13, 1999
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemiaN Draptchinskaia, P Gustavsson, B Andersson, et al.Molecular Psychiatry|September 20, 2017
An in vitro model of lissencephaly: expanding the role of DCX during neurogenesisM Shahsavani, R J Pronk, R Falk, et al.Blood|December 3, 1998
High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA Working Group of Société d'Immunologie Pédiatrique (SHIP)T N Willig, J L Pérignon, P Gustavsson, et al.Pageof 14