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S Malcolm

Showing results (251-260 of 271) with videos related to

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Human Molecular Genetics|November 5, 1997
IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndromeJ Tyson, L Tranebjaerg, S Bellman, et al.
Human Molecular Genetics|July 1, 1994
X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletionsI Huber, M Bitner-Glindzicz, Y J de Kok, et al.
Human Genetics|January 5, 2001
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-NielsenJ Tyson, L Tranebjaerg, M McEntagart, et al.
American Journal of Human Genetics|March 31, 2000
Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1S A Feather, S Malcolm, A S Woolf, et al.
Journal of Medical Genetics|August 1, 1997
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosisW Reardon, D Wilkes, P Rutland, et al.
Cytogenetics and Cell Genetics|January 1, 1997
Report of the Third International Workshop on Human Chromosome 15 Mapping 1996. October 25-27, 1996 in Vancouver B.C., CanadaW P Robinson, B Horsthemke, S Leonard, et al.
American Journal of Human Genetics|May 29, 2000
Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosomeM E Hodes, K Woodward, N B Spinner, et al.
American Journal of Human Genetics|February 17, 2001
Identification of the gene for oral-facial-digital type I syndromeM I Ferrante, G Giorgio, S A Feather, et al.
Journal of Medical Genetics|January 14, 2000
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?W Reardon, A Smith, J W Honour, et al.
American Journal of Medical Genetics|January 31, 1998
A gene for FG syndrome maps in the Xq12-q21.31 regionS Briault, R Hill, A Shrimpton, et al.
Pageof 28

Showing results (251-260 of 271) with videos related to

Sort By:
Pageof 28
Human Molecular Genetics|November 5, 1997
IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndromeJ Tyson, L Tranebjaerg, S Bellman, et al.
Human Molecular Genetics|July 1, 1994
X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletionsI Huber, M Bitner-Glindzicz, Y J de Kok, et al.
Human Genetics|January 5, 2001
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-NielsenJ Tyson, L Tranebjaerg, M McEntagart, et al.
American Journal of Human Genetics|March 31, 2000
Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1S A Feather, S Malcolm, A S Woolf, et al.
Journal of Medical Genetics|August 1, 1997
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosisW Reardon, D Wilkes, P Rutland, et al.
Cytogenetics and Cell Genetics|January 1, 1997
Report of the Third International Workshop on Human Chromosome 15 Mapping 1996. October 25-27, 1996 in Vancouver B.C., CanadaW P Robinson, B Horsthemke, S Leonard, et al.
American Journal of Human Genetics|May 29, 2000
Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosomeM E Hodes, K Woodward, N B Spinner, et al.
American Journal of Human Genetics|February 17, 2001
Identification of the gene for oral-facial-digital type I syndromeM I Ferrante, G Giorgio, S A Feather, et al.
Journal of Medical Genetics|January 14, 2000
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?W Reardon, A Smith, J W Honour, et al.
American Journal of Medical Genetics|January 31, 1998
A gene for FG syndrome maps in the Xq12-q21.31 regionS Briault, R Hill, A Shrimpton, et al.
Pageof 28