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A Gal

Showing results (401-410 of 488) with videos related to

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American Journal of Human Genetics|January 13, 2000
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genesU Finckh, T Müller-Thomsen, U Mann, et al.
American Journal of Human Genetics|May 1, 1995
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb regionN Dahl, L J Hu, M Chery, et al.
Human Genetics|March 1, 1989
Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on XpA Gal, A Schinzel, U Orth, et al.
Ideggyogyaszati Szemle|September 4, 2010
Clinical, radiological and genetic aspects of leukodystrophiesA László, On Elpeleg, K Horváth, et al.
Lancet (London, England)|July 5, 1986
Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probeS T Reeders, K Zerres, A Gal, et al.
Human Mutation|January 1, 1997
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)S Bunge, H Ince, C Steglich, et al.
The American Journal of Gastroenterology|June 1, 1988
Cholesteryl ester storage disease: a patient with massive splenomegaly and splenic abscessR A Edelstein, M R Filling-Katz, P Pentchev, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 1, 1990
Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity testsJ Ott, S Bhattacharya, J D Chen, et al.
Human Mutation|January 1, 1997
Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndromeS Bunge, W J Kleijer, A Tylki-Szymanska, et al.
Molecular Psychiatry|October 13, 2006
Plexin B3 is genetically associated with verbal performance and white matter volume in human brainD Rujescu, E M Meisenzahl, S Krejcova, et al.
Pageof 49

Showing results (401-410 of 488) with videos related to

Sort By:
Pageof 49
American Journal of Human Genetics|January 13, 2000
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genesU Finckh, T Müller-Thomsen, U Mann, et al.
American Journal of Human Genetics|May 1, 1995
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb regionN Dahl, L J Hu, M Chery, et al.
Human Genetics|March 1, 1989
Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on XpA Gal, A Schinzel, U Orth, et al.
Ideggyogyaszati Szemle|September 4, 2010
Clinical, radiological and genetic aspects of leukodystrophiesA László, On Elpeleg, K Horváth, et al.
Lancet (London, England)|July 5, 1986
Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probeS T Reeders, K Zerres, A Gal, et al.
Human Mutation|January 1, 1997
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)S Bunge, H Ince, C Steglich, et al.
The American Journal of Gastroenterology|June 1, 1988
Cholesteryl ester storage disease: a patient with massive splenomegaly and splenic abscessR A Edelstein, M R Filling-Katz, P Pentchev, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 1, 1990
Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity testsJ Ott, S Bhattacharya, J D Chen, et al.
Human Mutation|January 1, 1997
Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndromeS Bunge, W J Kleijer, A Tylki-Szymanska, et al.
Molecular Psychiatry|October 13, 2006
Plexin B3 is genetically associated with verbal performance and white matter volume in human brainD Rujescu, E M Meisenzahl, S Krejcova, et al.
Pageof 49