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G Millat

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

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Journal of Medical Genetics|February 24, 2001
Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblastsT Yamamoto, H Ninomiya, M Matsumoto, et al.
Clinical Genetics|October 9, 2007
Non-neuronopathic Gaucher disease due to saposin C deficiencyA Tylki-Szymańska, B Czartoryska, M-T Vanier, et al.
Clinical Genetics|August 23, 2006
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndromeG Millat, P Chevalier, L Restier-Miron, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|April 6, 2005
[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2]C Morisot, G Millat, A Coeslier, et al.
Clinical Genetics|March 25, 2018
Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategyO Marmontel, S Charrière, T Simonet, et al.
Human Genetics|September 10, 1999
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type CT Yamamoto, E Nanba, H Ninomiya, 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.
Journal of Medical Genetics|February 24, 2001
Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblastsT Yamamoto, H Ninomiya, M Matsumoto, et al.
Clinical Genetics|October 9, 2007
Non-neuronopathic Gaucher disease due to saposin C deficiencyA Tylki-Szymańska, B Czartoryska, M-T Vanier, et al.
Clinical Genetics|August 23, 2006
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndromeG Millat, P Chevalier, L Restier-Miron, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|April 6, 2005
[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2]C Morisot, G Millat, A Coeslier, et al.
Clinical Genetics|March 25, 2018
Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategyO Marmontel, S Charrière, T Simonet, et al.
Human Genetics|September 10, 1999
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type CT Yamamoto, E Nanba, H Ninomiya, et al.
Pageof 3