Search research articles
Contact Us
Filters
Showing results (11-20 of 55) with videos related to
Page
of 6
Sort By:
American Journal of Medical Genetics. Part A
|
July 17, 2010
Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum
Caroline Rooryck, Noui Souakri, Dorothée Cailley, et al.
American Journal of Medical Genetics. Part A
|
April 1, 2006
Behavioral and temperamental features of children with Costello syndrome
Cédric Galéra, Marie-Ange Delrue, Cyril Goizet, et al.
Nucleic Acids Research
|
August 21, 2020
A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humans
Petar N Grozdanov, Elahe Masoumzadeh, Vera M Kalscheuer, et al.
American Journal of Medical Genetics. Part A
|
November 16, 2010
Brachydactyly type A1 with short humerus and associated skeletal features
Didier Lacombe, Marie-Ange Delrue, Caroline Rooryck, et al.
Journal of Autism and Developmental Disorders
|
April 8, 2009
Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome
Cédric Galéra, Emmanuelle Taupiac, Sonia Fraisse, et al.
European Journal of Human Genetics : EJHG
|
May 3, 2007
Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients
Marianne Stef, Delphine Simon, Béatrice Mardirossian, et al.
PNAS Nexus
|
June 26, 2023
The Quebec Dental Anomalies Registry: Identifying genes for rare disorders
Madeleine S Wredenhagen, Andee Goldstein, Hélène Mathieu, et al.
American Journal of Medical Genetics. Part A
|
December 28, 2019
Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome
Gabrielle T Lemire, Éliane Beauregard-Lacroix, Philippe M Campeau, et al.
Archives of Cardiovascular Diseases
|
July 13, 2010
Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome
Delphine Detaint, Philippe Aegerter, Florence Tubach, et al.
European Journal of Medical Genetics
|
August 18, 2011
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy
Gilles Millat, Patrice Bouvagnet, Philippe Chevalier, et al.
Page
of 6
Search research articles
Search
Showing results (11-20 of 55) with videos related to
Sort By:
Page
of 6
American Journal of Medical Genetics. Part A
|
July 17, 2010
Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum
Caroline Rooryck, Noui Souakri, Dorothée Cailley, et al.
American Journal of Medical Genetics. Part A
|
April 1, 2006
Behavioral and temperamental features of children with Costello syndrome
Cédric Galéra, Marie-Ange Delrue, Cyril Goizet, et al.
Nucleic Acids Research
|
August 21, 2020
A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humans
Petar N Grozdanov, Elahe Masoumzadeh, Vera M Kalscheuer, et al.
American Journal of Medical Genetics. Part A
|
November 16, 2010
Brachydactyly type A1 with short humerus and associated skeletal features
Didier Lacombe, Marie-Ange Delrue, Caroline Rooryck, et al.
Journal of Autism and Developmental Disorders
|
April 8, 2009
Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome
Cédric Galéra, Emmanuelle Taupiac, Sonia Fraisse, et al.
European Journal of Human Genetics : EJHG
|
May 3, 2007
Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients
Marianne Stef, Delphine Simon, Béatrice Mardirossian, et al.
PNAS Nexus
|
June 26, 2023
The Quebec Dental Anomalies Registry: Identifying genes for rare disorders
Madeleine S Wredenhagen, Andee Goldstein, Hélène Mathieu, et al.
American Journal of Medical Genetics. Part A
|
December 28, 2019
Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome
Gabrielle T Lemire, Éliane Beauregard-Lacroix, Philippe M Campeau, et al.
Archives of Cardiovascular Diseases
|
July 13, 2010
Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome
Delphine Detaint, Philippe Aegerter, Florence Tubach, et al.
European Journal of Medical Genetics
|
August 18, 2011
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy
Gilles Millat, Patrice Bouvagnet, Philippe Chevalier, et al.
Page
of 6