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D Ross McLeod

Showing results (21-30 of 26) with videos related to

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Nature Genetics|January 19, 2002
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasiaCornelius F Boerkoel, Hiroshi Takashima, Joy John, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeRebecca L Hood, Matthew A Lines, Sarah M Nikkel, et al.
American Journal of Human Genetics|July 9, 2013
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disabilityNina Bögershausen, Nassim Shahrzad, Jessica X Chong, et al.
Orphanet Journal of Rare Diseases|September 25, 2012
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?Marie Morimoto, Zhongxin Yu, Peter Stenzel, et al.
American Journal of Human Genetics|December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneLijia Huang, Katarzyna Szymanska, Victor L Jensen, et al.
American Journal of Medical Genetics. Part A|March 30, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndromeSarah E Sheppard, Ian M Campbell, Margaret H Harr, et al.
Pageof 3

Showing results (21-30 of 26) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 26 results.
Nature Genetics|January 19, 2002
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasiaCornelius F Boerkoel, Hiroshi Takashima, Joy John, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeRebecca L Hood, Matthew A Lines, Sarah M Nikkel, et al.
American Journal of Human Genetics|July 9, 2013
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disabilityNina Bögershausen, Nassim Shahrzad, Jessica X Chong, et al.
Orphanet Journal of Rare Diseases|September 25, 2012
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?Marie Morimoto, Zhongxin Yu, Peter Stenzel, et al.
American Journal of Human Genetics|December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneLijia Huang, Katarzyna Szymanska, Victor L Jensen, et al.
American Journal of Medical Genetics. Part A|March 30, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndromeSarah E Sheppard, Ian M Campbell, Margaret H Harr, et al.
Pageof 3