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Human Mutation
|
December 8, 2004
A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD)
Antoine Disset, Carine Michot, Ann Harris, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
January 7, 2006
Meta-analysis of the p53 mutation database for mutant p53 biological activity reveals a methodologic bias in mutation detection
Thierry Soussi, Bernard Asselain, Dalil Hamroun, et al.
The Journal of Molecular Diagnostics : JMD
|
November 3, 2007
Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders
Corinne Bareil, Caroline Guittard, Jean-Pierre Altieri, et al.
BMC Medical Genetics
|
March 26, 2005
First molecular screening of deafness in the Altai Republic population
Olga Posukh, Nathalie Pallares-Ruiz, Vera Tadinova, et al.
Nucleic Acids Research
|
April 3, 2009
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
François-Olivier Desmet, Dalil Hamroun, Marine Lalande, et al.
Genetic Testing and Molecular Biomarkers
|
September 1, 2009
Cystic fibrosis transmembrane conductance regulator mutation spectrum in patients with cystic fibrosis in Tunisia
Sondess Hadj Fredj, Taïeb Messaoud, Carine Templin, et al.
European Journal of Human Genetics : EJHG
|
March 2, 2012
DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations
Erica Lana, André Mégarbané, Hélène Tourrière, et al.
European Journal of Human Genetics : EJHG
|
May 21, 2009
Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome
Aurélie Plancke, Muriel Holder-Espinasse, Valérie Rigau, et al.
European Journal of Human Genetics : EJHG
|
August 4, 2005
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies
Sylvie Tuffery-Giraud, Céline Saquet, Delphine Thorel, et al.
BMC Medical Genetics
|
August 4, 2004
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?
Mireille Claustres, Jean-Pierre Altiéri, Caroline Guittard, et al.
Page
of 15
Search research articles
Search
Showing results (21-30 of 149) with videos related to
Sort By:
Page
of 15
Human Mutation
|
December 8, 2004
A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD)
Antoine Disset, Carine Michot, Ann Harris, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
January 7, 2006
Meta-analysis of the p53 mutation database for mutant p53 biological activity reveals a methodologic bias in mutation detection
Thierry Soussi, Bernard Asselain, Dalil Hamroun, et al.
The Journal of Molecular Diagnostics : JMD
|
November 3, 2007
Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders
Corinne Bareil, Caroline Guittard, Jean-Pierre Altieri, et al.
BMC Medical Genetics
|
March 26, 2005
First molecular screening of deafness in the Altai Republic population
Olga Posukh, Nathalie Pallares-Ruiz, Vera Tadinova, et al.
Nucleic Acids Research
|
April 3, 2009
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
François-Olivier Desmet, Dalil Hamroun, Marine Lalande, et al.
Genetic Testing and Molecular Biomarkers
|
September 1, 2009
Cystic fibrosis transmembrane conductance regulator mutation spectrum in patients with cystic fibrosis in Tunisia
Sondess Hadj Fredj, Taïeb Messaoud, Carine Templin, et al.
European Journal of Human Genetics : EJHG
|
March 2, 2012
DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations
Erica Lana, André Mégarbané, Hélène Tourrière, et al.
European Journal of Human Genetics : EJHG
|
May 21, 2009
Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome
Aurélie Plancke, Muriel Holder-Espinasse, Valérie Rigau, et al.
European Journal of Human Genetics : EJHG
|
August 4, 2005
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies
Sylvie Tuffery-Giraud, Céline Saquet, Delphine Thorel, et al.
BMC Medical Genetics
|
August 4, 2004
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?
Mireille Claustres, Jean-Pierre Altiéri, Caroline Guittard, et al.
Page
of 15