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American Journal of Medical Genetics. Part A
|
February 11, 2005
Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome
Cheryl Descipio, Lori Schneider, Terri L Young, et al.
Clinical Genetics
|
September 10, 2004
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity
H Blons, D Feldmann, V Duval, et al.
Human Molecular Genetics
|
July 16, 2009
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression
Fatma Daoud, Nathalie Angeard, Bénédicte Demerre, et al.
Archives of Neurology
|
August 12, 2009
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity
Yoann Saillour, Nathalie Carion, Chloé Quelin, et al.
Brain : a Journal of Neurology
|
June 4, 2009
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia
Fabienne Clot, David Grabli, Cécile Cazeneuve, et al.
Scientific Reports
|
January 28, 2024
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome
Quentin Hennocq, Marjolaine Willems, Jeanne Amiel, et al.
La Revue De Medecine Interne
|
September 21, 2023
French National Diagnostic and Care Protocol for antiphospholipid syndrome in adults and children
Z Amoura, B Bader-Meunier, C Bal Dit Sollier, et al.
European Journal of Medical Genetics
|
November 25, 2010
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation
Christèle Dubourg, Damien Sanlaville, Martine Doco-Fenzy, et al.
The Journal of Small Animal Practice
|
December 23, 2025
European Network for Optimization of Veterinary Antimicrobial Therapy (ENOVAT) 2025 guidelines for surgical antimicrobial prophylaxis in dogs and cats
F Allerton, T M Sørensen, K Scahill, et al.
Molecular Psychiatry
|
February 28, 2024
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses
Dévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, et al.
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of 89
Search research articles
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Showing results (761-770 of 885) with videos related to
Sort By:
Page
of 89
American Journal of Medical Genetics. Part A
|
February 11, 2005
Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome
Cheryl Descipio, Lori Schneider, Terri L Young, et al.
Clinical Genetics
|
September 10, 2004
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity
H Blons, D Feldmann, V Duval, et al.
Human Molecular Genetics
|
July 16, 2009
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression
Fatma Daoud, Nathalie Angeard, Bénédicte Demerre, et al.
Archives of Neurology
|
August 12, 2009
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity
Yoann Saillour, Nathalie Carion, Chloé Quelin, et al.
Brain : a Journal of Neurology
|
June 4, 2009
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia
Fabienne Clot, David Grabli, Cécile Cazeneuve, et al.
Scientific Reports
|
January 28, 2024
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome
Quentin Hennocq, Marjolaine Willems, Jeanne Amiel, et al.
La Revue De Medecine Interne
|
September 21, 2023
French National Diagnostic and Care Protocol for antiphospholipid syndrome in adults and children
Z Amoura, B Bader-Meunier, C Bal Dit Sollier, et al.
European Journal of Medical Genetics
|
November 25, 2010
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation
Christèle Dubourg, Damien Sanlaville, Martine Doco-Fenzy, et al.
The Journal of Small Animal Practice
|
December 23, 2025
European Network for Optimization of Veterinary Antimicrobial Therapy (ENOVAT) 2025 guidelines for surgical antimicrobial prophylaxis in dogs and cats
F Allerton, T M Sørensen, K Scahill, et al.
Molecular Psychiatry
|
February 28, 2024
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses
Dévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, et al.
Page
of 89