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J R Lupski

Showing results (111-120 of 209) with videos related to

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Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|April 22, 2008
Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 geneD Kabzińska, G M Saifi, H Drac, et al.
American Journal of Human Genetics|December 1, 1995
A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1pK L Anderson, L Baird, R A Lewis, et al.
Nature Genetics|March 1, 1996
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like elementL T Reiter, T Murakami, T Koeuth, et al.
American Journal of Medical Genetics|August 8, 1997
Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief reviewD W Stockton, H L Ross, C A Bacino, et al.
American Journal of Medical Genetics|October 21, 1998
Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1B A Bejjani, K C Oberg, I Wilkins, et al.
Genome Research|February 7, 2001
Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locusL Edelmann, P Stankiewicz, E Spiteri, et al.
Genomics|March 2, 1999
A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2)F J Probst, K S Chen, Q Zhao, et al.
American Journal of Human Genetics|January 3, 2001
Periaxin mutations cause recessive Dejerine-Sottas neuropathyC F Boerkoel, H Takashima, P Stankiewicz, et al.
Clinical Genetics|July 16, 2004
Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndromeS A Yatsenko, A N Yatsenko, K Szigeti, et al.
Human Molecular Genetics|February 1, 1994
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17P F Chance, N Abbas, M W Lensch, et al.
Pageof 21

Showing results (111-120 of 209) with videos related to

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Pageof 21
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|April 22, 2008
Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 geneD Kabzińska, G M Saifi, H Drac, et al.
American Journal of Human Genetics|December 1, 1995
A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1pK L Anderson, L Baird, R A Lewis, et al.
Nature Genetics|March 1, 1996
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like elementL T Reiter, T Murakami, T Koeuth, et al.
American Journal of Medical Genetics|August 8, 1997
Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief reviewD W Stockton, H L Ross, C A Bacino, et al.
American Journal of Medical Genetics|October 21, 1998
Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1B A Bejjani, K C Oberg, I Wilkins, et al.
Genome Research|February 7, 2001
Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locusL Edelmann, P Stankiewicz, E Spiteri, et al.
Genomics|March 2, 1999
A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2)F J Probst, K S Chen, Q Zhao, et al.
American Journal of Human Genetics|January 3, 2001
Periaxin mutations cause recessive Dejerine-Sottas neuropathyC F Boerkoel, H Takashima, P Stankiewicz, et al.
Clinical Genetics|July 16, 2004
Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndromeS A Yatsenko, A N Yatsenko, K Szigeti, et al.
Human Molecular Genetics|February 1, 1994
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17P F Chance, N Abbas, M W Lensch, et al.
Pageof 21