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Journal of Thrombosis and Haemostasis : JTH
|
December 5, 2008
Mosaicism in men in hemophilia: is it exceptional? Impact on genetic counselling
C Costa, A M Frances, S Letourneau, et al.
Human Molecular Genetics
|
February 28, 1998
Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders
D Sternberg, C Danan, A Lombès, et al.
Human Mutation
|
January 1, 1992
A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms
N Ghanem, E Girodon, M Vidaud, et al.
Annals of Hematology
|
October 1, 1992
Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants
E Girodon, N Ghanem, M Vidaud, et al.
The Laryngoscope
|
May 6, 2004
Atypical sinusitis in adults must lead to looking for cystic fibrosis and primary ciliary dyskinesia
A Coste, E Girodon, S Louis, et al.
European Journal of Human Genetics : EJHG
|
January 1, 1995
Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens
B Costes, E Girodon, N Ghanem, et al.
American Journal of Medical Genetics
|
July 13, 2002
Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: results of a French molecular collaborative study based on 641 prospective cases
F Muller, B Simon-Bouy, E Girodon, et al.
Human Molecular Genetics
|
April 1, 1993
Psoralen-modified oligonucleotide primers improve detection of mutations by denaturing gradient gel electrophoresis and provide an alternative to GC-clamping
B Costes, E Girodon, N Ghanem, et al.
Clinical Genetics
|
September 27, 2000
Mild clinical phenotype associated with R1158X/S549R(T-->G) CFTR genotype
P M Frossard, S A Abdelaziz, J Hertecant, et al.
Clinical Genetics
|
April 27, 2000
Identification of cystic fibrosis mutations in Oman
P M Frossard, K P Dawson, S J Das, et al.
Page
of 6
Search research articles
Search
Showing results (11-20 of 54) with videos related to
Sort By:
Page
of 6
Journal of Thrombosis and Haemostasis : JTH
|
December 5, 2008
Mosaicism in men in hemophilia: is it exceptional? Impact on genetic counselling
C Costa, A M Frances, S Letourneau, et al.
Human Molecular Genetics
|
February 28, 1998
Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders
D Sternberg, C Danan, A Lombès, et al.
Human Mutation
|
January 1, 1992
A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms
N Ghanem, E Girodon, M Vidaud, et al.
Annals of Hematology
|
October 1, 1992
Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants
E Girodon, N Ghanem, M Vidaud, et al.
The Laryngoscope
|
May 6, 2004
Atypical sinusitis in adults must lead to looking for cystic fibrosis and primary ciliary dyskinesia
A Coste, E Girodon, S Louis, et al.
European Journal of Human Genetics : EJHG
|
January 1, 1995
Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens
B Costes, E Girodon, N Ghanem, et al.
American Journal of Medical Genetics
|
July 13, 2002
Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: results of a French molecular collaborative study based on 641 prospective cases
F Muller, B Simon-Bouy, E Girodon, et al.
Human Molecular Genetics
|
April 1, 1993
Psoralen-modified oligonucleotide primers improve detection of mutations by denaturing gradient gel electrophoresis and provide an alternative to GC-clamping
B Costes, E Girodon, N Ghanem, et al.
Clinical Genetics
|
September 27, 2000
Mild clinical phenotype associated with R1158X/S549R(T-->G) CFTR genotype
P M Frossard, S A Abdelaziz, J Hertecant, et al.
Clinical Genetics
|
April 27, 2000
Identification of cystic fibrosis mutations in Oman
P M Frossard, K P Dawson, S J Das, et al.
Page
of 6