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E Girodon

Showing results (31-40 of 54) with videos related to

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American Journal of Medical Genetics. Part A|August 19, 2003
Hyperechogenic fetal bowel: a large French collaborative study of 682 casesB Simon-Bouy, V Satre, C Ferec, et al.
Human Genetics|December 1, 1995
Germline mosaicism for an alanine to valine substitution at residue beta 140 in hemoglobin Puttelange, a new variant with high oxygen affinityH Wajcman, E Girodon, D Promé, et al.
Prenatal Diagnosis|July 1, 1997
Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two familiesC Desbois-Mouthon, E Girodon, N Ghanem, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|April 25, 2020
Penetrance is a critical parameter for assessing the disease liability of CFTR variantsA Boussaroque, M-P Audrézet, C Raynal, et al.
European Journal of Human Genetics : EJHG|May 1, 1997
CFTR gene mutations in adults with disseminated bronchiectasisE Girodon, C Cazeneuve, F Lebargy, et al.
Human Mutation|January 1, 1996
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markersN Morral, T Dörk, R Llevadot, et al.
Human Mutation|September 12, 2000
NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1E Girodon-Boulandet, J Pantel, C Cazeneuve, et al.
The British Journal of Dermatology|July 17, 2019
CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratodermaC Raynal, E Girodon, M P Audrezet, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|October 7, 2022
ECFS standards of care on CFTR-related disorders: Diagnostic criteria of CFTR dysfunctionI Sermet-Gaudelus, E Girodon, F Vermeulen, 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.
Pageof 6

Showing results (31-40 of 54) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|August 19, 2003
Hyperechogenic fetal bowel: a large French collaborative study of 682 casesB Simon-Bouy, V Satre, C Ferec, et al.
Human Genetics|December 1, 1995
Germline mosaicism for an alanine to valine substitution at residue beta 140 in hemoglobin Puttelange, a new variant with high oxygen affinityH Wajcman, E Girodon, D Promé, et al.
Prenatal Diagnosis|July 1, 1997
Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two familiesC Desbois-Mouthon, E Girodon, N Ghanem, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|April 25, 2020
Penetrance is a critical parameter for assessing the disease liability of CFTR variantsA Boussaroque, M-P Audrézet, C Raynal, et al.
European Journal of Human Genetics : EJHG|May 1, 1997
CFTR gene mutations in adults with disseminated bronchiectasisE Girodon, C Cazeneuve, F Lebargy, et al.
Human Mutation|January 1, 1996
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markersN Morral, T Dörk, R Llevadot, et al.
Human Mutation|September 12, 2000
NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1E Girodon-Boulandet, J Pantel, C Cazeneuve, et al.
The British Journal of Dermatology|July 17, 2019
CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratodermaC Raynal, E Girodon, M P Audrezet, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|October 7, 2022
ECFS standards of care on CFTR-related disorders: Diagnostic criteria of CFTR dysfunctionI Sermet-Gaudelus, E Girodon, F Vermeulen, 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.
Pageof 6