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Clinical Genetics
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October 22, 2009
Non-classic cystic fibrosis associated with D1152H CFTR mutation
P-R Burgel, I Fajac, D Hubert, et al.
L'Encephale
|
May 7, 2020
[Health professionals facing the coronavirus disease 2019 (COVID-19) pandemic: What are the mental health risks?]
W El-Hage, C Hingray, C Lemogne, et al.
Human Molecular Genetics
|
April 20, 2001
MECP2 is highly mutated in X-linked mental retardation
P Couvert, T Bienvenu, C Aquaviva, et al.
Journal of Medical Genetics
|
July 7, 2009
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome
M A Mencarelli, A Spanhol-Rosseto, R Artuso, et al.
Neurology
|
July 15, 2011
De novo SCN1A mutations in migrating partial seizures of infancy
D Carranza Rojo, L Hamiwka, J M McMahon, et al.
Nature Genetics
|
September 2, 1999
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
A Carrié, L Jun, T Bienvenu, et al.
Human Mutation
|
August 3, 2000
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
M Claustres, C Guittard, D Bozon, et al.
Nature Genetics
|
February 2, 2000
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
R Zemni, T Bienvenu, M C Vinet, 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.
Clinical Genetics
|
March 26, 2018
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases
S Baer, A Afenjar, T Smol, et al.
Page
of 10
Search research articles
Search
Showing results (81-90 of 92) with videos related to
Sort By:
Page
of 10
Clinical Genetics
|
October 22, 2009
Non-classic cystic fibrosis associated with D1152H CFTR mutation
P-R Burgel, I Fajac, D Hubert, et al.
L'Encephale
|
May 7, 2020
[Health professionals facing the coronavirus disease 2019 (COVID-19) pandemic: What are the mental health risks?]
W El-Hage, C Hingray, C Lemogne, et al.
Human Molecular Genetics
|
April 20, 2001
MECP2 is highly mutated in X-linked mental retardation
P Couvert, T Bienvenu, C Aquaviva, et al.
Journal of Medical Genetics
|
July 7, 2009
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome
M A Mencarelli, A Spanhol-Rosseto, R Artuso, et al.
Neurology
|
July 15, 2011
De novo SCN1A mutations in migrating partial seizures of infancy
D Carranza Rojo, L Hamiwka, J M McMahon, et al.
Nature Genetics
|
September 2, 1999
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
A Carrié, L Jun, T Bienvenu, et al.
Human Mutation
|
August 3, 2000
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
M Claustres, C Guittard, D Bozon, et al.
Nature Genetics
|
February 2, 2000
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
R Zemni, T Bienvenu, M C Vinet, 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.
Clinical Genetics
|
March 26, 2018
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases
S Baer, A Afenjar, T Smol, et al.
Page
of 10