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G LeRoy

Showing results (271-280 of 316) with videos related to

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American Journal of Human Genetics|March 4, 2014
XYLT1 mutations in Desbuquois dysplasia type 2Catherine Bui, Céline Huber, Beyhan Tuysuz, et al.
American Journal of Medical Genetics|December 1, 1991
Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridizationF Speleman, J G Leroy, N Van Roy, et al.
Journal of Medical Genetics|December 18, 2008
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylationA Willaert, F Malfait, S Symoens, et al.
Cancer Genetics and Cytogenetics|July 1, 1989
Cytogenetic analysis of a mesenchymal hamartoma of the liverF Speleman, V De Telder, K R De Potter, et al.
American Journal of Human Genetics|April 28, 2001
Dominant inheritance of sialuria, an inborn error of feedback inhibitionJ G Leroy, R Seppala, M Huizing, et al.
Plos One|October 27, 2010
AAV-mediated gene delivery in adult GM1-gangliosidosis mice corrects lysosomal storage in CNS and improves survivalRena C Baek, Marike L D Broekman, Stanley G Leroy, et al.
Clinical Case Reports|November 21, 2018
Two unrelated patients with autosomal dominant omodysplasia and <i>FRIZZLED2</i> mutationsHannah E Warren, Raymond J Louie, Michael J Friez, et al.
Journal of Child Neurology|March 9, 2011
Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar developmentStephen M Maricich, Kaashif A Aqeeb, Yalda Moayedi, et al.
Clinical Genetics|May 13, 2014
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinismC Saint-Martin, Q Zhou, G M Martin, et al.
American Journal of Medical Genetics. Part A|June 10, 2003
Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex IIRudy Van Coster, S Seneca, J Smet, et al.
Pageof 32

Showing results (271-280 of 316) with videos related to

Sort By:
Pageof 32
American Journal of Human Genetics|March 4, 2014
XYLT1 mutations in Desbuquois dysplasia type 2Catherine Bui, Céline Huber, Beyhan Tuysuz, et al.
American Journal of Medical Genetics|December 1, 1991
Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridizationF Speleman, J G Leroy, N Van Roy, et al.
Journal of Medical Genetics|December 18, 2008
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylationA Willaert, F Malfait, S Symoens, et al.
Cancer Genetics and Cytogenetics|July 1, 1989
Cytogenetic analysis of a mesenchymal hamartoma of the liverF Speleman, V De Telder, K R De Potter, et al.
American Journal of Human Genetics|April 28, 2001
Dominant inheritance of sialuria, an inborn error of feedback inhibitionJ G Leroy, R Seppala, M Huizing, et al.
Plos One|October 27, 2010
AAV-mediated gene delivery in adult GM1-gangliosidosis mice corrects lysosomal storage in CNS and improves survivalRena C Baek, Marike L D Broekman, Stanley G Leroy, et al.
Clinical Case Reports|November 21, 2018
Two unrelated patients with autosomal dominant omodysplasia and <i>FRIZZLED2</i> mutationsHannah E Warren, Raymond J Louie, Michael J Friez, et al.
Journal of Child Neurology|March 9, 2011
Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar developmentStephen M Maricich, Kaashif A Aqeeb, Yalda Moayedi, et al.
Clinical Genetics|May 13, 2014
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinismC Saint-Martin, Q Zhou, G M Martin, et al.
American Journal of Medical Genetics. Part A|June 10, 2003
Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex IIRudy Van Coster, S Seneca, J Smet, et al.
Pageof 32