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Clinical Genetics
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September 30, 2017
Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant
N Lebrun, P Parent, J Gendras, et al.
American Journal of Respiratory and Critical Care Medicine
|
May 6, 1999
HLA class II polymorphism in cystic fibrosis. A possible modifier of pulmonary phenotype
Y Aron, B S Polla, T Bienvenu, et al.
Human Genetics
|
July 1, 1994
Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene
T Bienvenu, D Hubert, N Fonknechten, et al.
Human Biology
|
April 7, 2006
Spectrum of CFTR mutations on Réunion Island: impact on neonatal screening
T Bienvenu, M Viel, C Leroy, et al.
Human Heredity
|
May 1, 1996
A splicing mutation in intron 16 of the cystic fibrosis transmembrane conductance regulator gene, associated with severe disease, is common on Reunion Island
T Bienvenu, F Cartault, F Lesure, et al.
Human Genetics
|
September 1, 1996
Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test
M C Romey, S Tuffery, M Desgeorges, et al.
Gynecologie, Obstetrique & Fertilite
|
September 23, 2003
[Indications and modalities of assisted reproductive techniques in infertile women with cystic fibrosis]
S Epelboin, D Hubert, C Patrat, et al.
Fundamental & Clinical Pharmacology
|
January 1, 1990
Effect of hypophysectomy on caffeine elimination in rats
T Bienvenu, G Pons, E Rey, et al.
Human Mutation
|
January 1, 1993
Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island
T Bienvenu, S Bousquet, C Herbulot, et al.
Annales De Biologie Clinique
|
January 1, 1990
[Radioisotopic assay of total L-homocysteine in plasma and urine: application to serial determinations]
B Chadefaux, M Coude, M Hamet, et al.
Page
of 10
Search research articles
Search
Showing results (21-30 of 92) with videos related to
Sort By:
Page
of 10
Clinical Genetics
|
September 30, 2017
Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant
N Lebrun, P Parent, J Gendras, et al.
American Journal of Respiratory and Critical Care Medicine
|
May 6, 1999
HLA class II polymorphism in cystic fibrosis. A possible modifier of pulmonary phenotype
Y Aron, B S Polla, T Bienvenu, et al.
Human Genetics
|
July 1, 1994
Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene
T Bienvenu, D Hubert, N Fonknechten, et al.
Human Biology
|
April 7, 2006
Spectrum of CFTR mutations on Réunion Island: impact on neonatal screening
T Bienvenu, M Viel, C Leroy, et al.
Human Heredity
|
May 1, 1996
A splicing mutation in intron 16 of the cystic fibrosis transmembrane conductance regulator gene, associated with severe disease, is common on Reunion Island
T Bienvenu, F Cartault, F Lesure, et al.
Human Genetics
|
September 1, 1996
Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test
M C Romey, S Tuffery, M Desgeorges, et al.
Gynecologie, Obstetrique & Fertilite
|
September 23, 2003
[Indications and modalities of assisted reproductive techniques in infertile women with cystic fibrosis]
S Epelboin, D Hubert, C Patrat, et al.
Fundamental & Clinical Pharmacology
|
January 1, 1990
Effect of hypophysectomy on caffeine elimination in rats
T Bienvenu, G Pons, E Rey, et al.
Human Mutation
|
January 1, 1993
Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island
T Bienvenu, S Bousquet, C Herbulot, et al.
Annales De Biologie Clinique
|
January 1, 1990
[Radioisotopic assay of total L-homocysteine in plasma and urine: application to serial determinations]
B Chadefaux, M Coude, M Hamet, et al.
Page
of 10