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Nature Genetics|June 1, 1996
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeastJ Laporte, L J Hu, C Kretz, et al.American Journal of Medical Genetics|April 1, 1992
Methylation and mutation patterns in the fragile X syndromeH Malmgren, M L Steén-Bondeson, K H Gustavson, et al.American Journal of Medical Genetics|February 1, 1991
Linkage analysis of the fragile X syndrome using a new DNA marker U6.2 defining locus DXS304P Goonewardena, W T Brown, A C Gross, et al.Human Genetics|January 1, 1991
Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markersA Sefiani, R M'rad, L Simard, et al.The Journal of Clinical Endocrinology and Metabolism|June 8, 2000
Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptorT Carling, E Szabo, M Bai, et al.Journal of Medical Genetics|December 1, 1994
X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684)N Dahl, F Samson, N S Thomas, et al.Journal of Human Genetics|September 2, 2006
A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype associationM Melin, J Klar, T Jr Gedde-Dahl, et al.Journal of Medical Genetics|May 1, 1997
The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12qH Arnell, K Hjälmås, M Jägervall, et al.Journal of the American College of Cardiology|November 17, 2022
Coronary Calcium Scoring Improves Risk Prediction in Patients With Suspected Obstructive Coronary Artery DiseaseSimon Winther, Samuel E Schmidt, Borek Foldyna, et al.Neurology|October 1, 1995
New connexin32 mutations associated with X-linked Charcot-Marie-Tooth diseaseL J Bone, N Dahl, M W Lensch, et al.Pageof 14