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American Journal of Human Genetics|July 7, 2009
Genome-wide study of families with absolute pitch reveals linkage to 8q24.21 and locus heterogeneityElizabeth Theusch, Analabha Basu, Jane GitschierAmerican Journal of Human Genetics|July 28, 2009
Identification of an agrin mutation that causes congenital myasthenia and affects synapse functionCaroline Huzé, Stéphanie Bauché, Pascale Richard, et al.American Journal of Human Genetics|May 1, 1990
Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndromeB Arveiler, G de Saint-Basile, A Fischer, et al.American Journal of Human Genetics|May 1, 1990
Diagnosis of neurofibromatosis I by using tightly linked, flanking DNA markersK Ward, P O'Connell, J C Carey, et al.American Journal of Human Genetics|May 1, 1990
Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit geneC Dacou-Voutetakis, D M Feltquate, M Drakopoulou, et al.American Journal of Human Genetics|June 1, 1990
A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locusK Johnson, P Shelbourne, J Davies, et al.American Journal of Human Genetics|June 1, 1990
RFLPs for Duchenne muscular dystrophy cDNA clones 9 and 10S Liechti-Gallati, V Schneider, P Mullis, et al.American Journal of Human Genetics|July 21, 2009
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disordersAlberta A H J Thiadens, Anneke I den Hollander, Susanne Roosing, et al.American Journal of Human Genetics|September 8, 2009
Epistasis and its implications for personal geneticsJason H Moore, Scott M WilliamsAmerican Journal of Human Genetics|September 1, 1990
Alpha 1-antitrypsin Null(isola di procida): an alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exonsH Takahashi, R G CrystalPageof 979