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A Munnich

Showing results (361-370 of 426) with videos related to

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American Journal of Human Genetics|December 1, 1996
A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 geneJ A Terrett, R Newbury-Ecob, N M Smith, et al.
Neuropediatrics|March 17, 2006
Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic studyS Romano, N Boddaert, I Desguerre, et al.
Journal of Medical Genetics|October 21, 1999
Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1L Villard, S Briault, A M Lossi, et al.
The Journal of Pediatrics|July 11, 2001
Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndromeH De Leersnyder, M C De Blois, B Claustrat, et al.
Neurology|May 27, 2006
A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36I Maystadt, M Zarhrate, D Leclair-Richard, et al.
Journal of Medical Genetics|December 20, 2003
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiencyS Lebon, M Chol, P Benit, et al.
American Journal of Human Genetics|August 27, 1998
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosomeD J Wilkin, J K Szabo, R Cameron, et al.
European Journal of Human Genetics : EJHG|August 31, 2001
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosisS Gerber, I Perrault, S Hanein, et al.
Molecular Genetics and Metabolism|December 21, 2007
Risk assessment of acute vascular events in congenital disorder of glycosylation type IaJ B Arnoux, N Boddaert, V Valayannopoulos, et al.
Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction|September 28, 2011
[Preimplantation diagnosis with HLA typing: birth of the first double hope child in France]F Lamazou, J Steffann, N Frydman, et al.
Pageof 43

Showing results (361-370 of 426) with videos related to

Sort By:
Pageof 43
American Journal of Human Genetics|December 1, 1996
A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 geneJ A Terrett, R Newbury-Ecob, N M Smith, et al.
Neuropediatrics|March 17, 2006
Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic studyS Romano, N Boddaert, I Desguerre, et al.
Journal of Medical Genetics|October 21, 1999
Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1L Villard, S Briault, A M Lossi, et al.
The Journal of Pediatrics|July 11, 2001
Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndromeH De Leersnyder, M C De Blois, B Claustrat, et al.
Neurology|May 27, 2006
A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36I Maystadt, M Zarhrate, D Leclair-Richard, et al.
Journal of Medical Genetics|December 20, 2003
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiencyS Lebon, M Chol, P Benit, et al.
American Journal of Human Genetics|August 27, 1998
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosomeD J Wilkin, J K Szabo, R Cameron, et al.
European Journal of Human Genetics : EJHG|August 31, 2001
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosisS Gerber, I Perrault, S Hanein, et al.
Molecular Genetics and Metabolism|December 21, 2007
Risk assessment of acute vascular events in congenital disorder of glycosylation type IaJ B Arnoux, N Boddaert, V Valayannopoulos, et al.
Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction|September 28, 2011
[Preimplantation diagnosis with HLA typing: birth of the first double hope child in France]F Lamazou, J Steffann, N Frydman, et al.
Pageof 43