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E Bieth

Showing results (21-30 of 36) with videos related to

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Journal of Medical Genetics|November 5, 2002
Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patientsM P Reboul, E Bieth, M Fayon, et al.
Neurology|November 13, 2002
SMN1 gene study in three families in which ALS and spinal muscular atrophy co-existP Corcia, J Khoris, P Couratier, et al.
Journal of Intellectual Disability Research : JIDR|June 21, 2014
Medical, psychological and social features in a large cohort of adults with Prader-Willi syndrome: experience from a dedicated centre in FranceV Laurier, A Lapeyrade, P Copet, et al.
Human Mutation|June 21, 2006
A new large CFTR rearrangement illustrates the importance of searching for complex allelesF Niel, M Legendre, T Bienvenu, et al.
Clinical Genetics|January 7, 2011
Twenty-five novel mutations including duplications in the ATP7A geneM-P Moizard, N Ronce, S Blesson, et al.
Human Genetics|August 2, 2001
A molecular approach to dominance in hypophosphatasiaA S Lia-Baldini, F Muller, A Taillandier, et al.
Journal of Medical Genetics|August 1, 2009
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) familiesM Willems, D Geneviève, G Borck, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|January 2, 2017
Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutationC Guissart, C Dubucs, C Raynal, et al.
Journal of Medical Genetics|January 7, 2006
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative studyC Thauvin-Robinet, M Cossée, V Cormier-Daire, et al.
Journal of the Neurological Sciences|October 22, 2019
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variantsJ Lerat, C Magdelaine, A Lunati, et al.
Pageof 4

Showing results (21-30 of 36) with videos related to

Sort By:
Pageof 4
Journal of Medical Genetics|November 5, 2002
Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patientsM P Reboul, E Bieth, M Fayon, et al.
Neurology|November 13, 2002
SMN1 gene study in three families in which ALS and spinal muscular atrophy co-existP Corcia, J Khoris, P Couratier, et al.
Journal of Intellectual Disability Research : JIDR|June 21, 2014
Medical, psychological and social features in a large cohort of adults with Prader-Willi syndrome: experience from a dedicated centre in FranceV Laurier, A Lapeyrade, P Copet, et al.
Human Mutation|June 21, 2006
A new large CFTR rearrangement illustrates the importance of searching for complex allelesF Niel, M Legendre, T Bienvenu, et al.
Clinical Genetics|January 7, 2011
Twenty-five novel mutations including duplications in the ATP7A geneM-P Moizard, N Ronce, S Blesson, et al.
Human Genetics|August 2, 2001
A molecular approach to dominance in hypophosphatasiaA S Lia-Baldini, F Muller, A Taillandier, et al.
Journal of Medical Genetics|August 1, 2009
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) familiesM Willems, D Geneviève, G Borck, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|January 2, 2017
Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutationC Guissart, C Dubucs, C Raynal, et al.
Journal of Medical Genetics|January 7, 2006
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative studyC Thauvin-Robinet, M Cossée, V Cormier-Daire, et al.
Journal of the Neurological Sciences|October 22, 2019
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variantsJ Lerat, C Magdelaine, A Lunati, et al.
Pageof 4