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G Millat

Showing results (11-20 of 26) with videos related to

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Human Genetics|August 2, 2001
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterationsI Ribeiro, A Marcão, O Amaral, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 18, 2006
Niemann-Pick type C disease in a 68-year-old patientG Trendelenburg, M T Vanier, S Maza, et al.
Archives Des Maladies Du Coeur Et Des Vaisseaux|March 25, 2006
[Long QT syndrome in children: analysis of the Lyon series]M Iraqi, P Chevalier, M J Raboisson, et al.
Clinical Genetics|July 11, 1998
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patientsR Froissart, I Maire, G Millat, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|July 17, 2012
[Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene]J-B Selly, B Boumahni, A Edmar, et al.
Clinical Genetics|April 25, 2017
Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathyA Janin, K N'Guyen, G Habib, et al.
Clinical Genetics|April 1, 2016
Homozygous PKP2 deletion associated with neonatal left ventricle noncompactionF Ramond, A Janin, S Di Filippo, et al.
American Journal of Human Genetics|May 3, 2001
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loopG Millat, C Marçais, C Tomasetto, et al.
American Journal of Human Genetics|September 22, 2001
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 groupG Millat, K Chikh, S Naureckiene, et al.
American Journal of Human Genetics|October 16, 1999
Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotypeG Millat, C Marçais, M A Rafi, et al.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
Human Genetics|August 2, 2001
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterationsI Ribeiro, A Marcão, O Amaral, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 18, 2006
Niemann-Pick type C disease in a 68-year-old patientG Trendelenburg, M T Vanier, S Maza, et al.
Archives Des Maladies Du Coeur Et Des Vaisseaux|March 25, 2006
[Long QT syndrome in children: analysis of the Lyon series]M Iraqi, P Chevalier, M J Raboisson, et al.
Clinical Genetics|July 11, 1998
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patientsR Froissart, I Maire, G Millat, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|July 17, 2012
[Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene]J-B Selly, B Boumahni, A Edmar, et al.
Clinical Genetics|April 25, 2017
Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathyA Janin, K N'Guyen, G Habib, et al.
Clinical Genetics|April 1, 2016
Homozygous PKP2 deletion associated with neonatal left ventricle noncompactionF Ramond, A Janin, S Di Filippo, et al.
American Journal of Human Genetics|May 3, 2001
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loopG Millat, C Marçais, C Tomasetto, et al.
American Journal of Human Genetics|September 22, 2001
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 groupG Millat, K Chikh, S Naureckiene, et al.
American Journal of Human Genetics|October 16, 1999
Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotypeG Millat, C Marçais, M A Rafi, et al.
Pageof 3