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Human Molecular Genetics
|
April 18, 1998
The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe
F Libert, P Cochaux, G Beckman, et al.
Journal of Medical Genetics
|
March 4, 2008
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
L Faivre, G Collod-Beroud, A Child, et al.
American Journal of Medical Genetics. Part A
|
April 9, 2009
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion
L Faivre, G Collod-Beroud, B Callewaert, et al.
European Journal of Human Genetics : EJHG
|
November 13, 2008
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation
L Faivre, G Collod-Beroud, B Callewaert, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
May 6, 2008
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
C Castellani, H Cuppens, M Macek, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
December 25, 2022
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy
A Bergougnoux, A Billet, C Ka, et al.
Neurogenetics
|
March 7, 2008
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
M Y Frédéric, F Clot, L Cif, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
June 11, 2011
Recommendations for the classification of diseases as CFTR-related disorders
C Bombieri, M Claustres, K De Boeck, et al.
American Journal of Human Genetics
|
August 19, 2007
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study
L Faivre, G Collod-Beroud, B L Loeys, et al.
Revue Neurologique
|
August 20, 2013
[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases]
V Humbertclaude, D Hamroun, M-C Picot, et al.
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of 15
Search research articles
Search
Showing results (131-140 of 143) with videos related to
Sort By:
Page
of 15
Human Molecular Genetics
|
April 18, 1998
The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe
F Libert, P Cochaux, G Beckman, et al.
Journal of Medical Genetics
|
March 4, 2008
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
L Faivre, G Collod-Beroud, A Child, et al.
American Journal of Medical Genetics. Part A
|
April 9, 2009
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion
L Faivre, G Collod-Beroud, B Callewaert, et al.
European Journal of Human Genetics : EJHG
|
November 13, 2008
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation
L Faivre, G Collod-Beroud, B Callewaert, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
May 6, 2008
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
C Castellani, H Cuppens, M Macek, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
December 25, 2022
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy
A Bergougnoux, A Billet, C Ka, et al.
Neurogenetics
|
March 7, 2008
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
M Y Frédéric, F Clot, L Cif, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
June 11, 2011
Recommendations for the classification of diseases as CFTR-related disorders
C Bombieri, M Claustres, K De Boeck, et al.
American Journal of Human Genetics
|
August 19, 2007
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study
L Faivre, G Collod-Beroud, B L Loeys, et al.
Revue Neurologique
|
August 20, 2013
[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases]
V Humbertclaude, D Hamroun, M-C Picot, et al.
Page
of 15