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American Journal of Medical Genetics. Part A
|
May 1, 2014
New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity
Marie-Laure Vuillaume, Sophie Naudion, Guillaume Banneau, et al.
American Journal of Medical Genetics. Part A
|
February 24, 2011
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome
Angela E Lin, Mark E Alexander, Steven D Colan, et al.
Journal of Medical Genetics
|
August 28, 2019
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice
Aia Elise Jønch, Elise Douard, Clara Moreau, et al.
European Journal of Human Genetics : EJHG
|
October 18, 2012
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
Camille Leroy, Emilie Landais, Sylvain Briault, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 11, 2021
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort
Alexandra Scott, Niccolò Di Giosaffatte, Valentina Pinna, et al.
Journal of Medical Genetics
|
July 27, 2010
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome
Salima El Chehadeh, Bernard Aral, Nadège Gigot, et al.
European Journal of Human Genetics : EJHG
|
September 24, 2015
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
Sophie Nambot, Alice Masurel, Salima El Chehadeh, et al.
Journal of Human Genetics
|
May 20, 2016
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum
Sébastien Moutton, Patricia Fergelot, Sophie Naudion, et al.
American Journal of Medical Genetics. Part A
|
June 9, 2012
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures
Gaelle Thierry, Claire Bénéteau, Olivier Pichon, et al.
American Journal of Medical Genetics. Part A
|
July 31, 2019
Phenotype delineation of ZNF462 related syndrome
Paul Kruszka, Tommy Hu, Sungkook Hong, et al.
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Search research articles
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Showing results (31-40 of 55) with videos related to
Sort By:
Page
of 6
American Journal of Medical Genetics. Part A
|
May 1, 2014
New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity
Marie-Laure Vuillaume, Sophie Naudion, Guillaume Banneau, et al.
American Journal of Medical Genetics. Part A
|
February 24, 2011
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome
Angela E Lin, Mark E Alexander, Steven D Colan, et al.
Journal of Medical Genetics
|
August 28, 2019
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice
Aia Elise Jønch, Elise Douard, Clara Moreau, et al.
European Journal of Human Genetics : EJHG
|
October 18, 2012
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
Camille Leroy, Emilie Landais, Sylvain Briault, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 11, 2021
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort
Alexandra Scott, Niccolò Di Giosaffatte, Valentina Pinna, et al.
Journal of Medical Genetics
|
July 27, 2010
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome
Salima El Chehadeh, Bernard Aral, Nadège Gigot, et al.
European Journal of Human Genetics : EJHG
|
September 24, 2015
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
Sophie Nambot, Alice Masurel, Salima El Chehadeh, et al.
Journal of Human Genetics
|
May 20, 2016
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum
Sébastien Moutton, Patricia Fergelot, Sophie Naudion, et al.
American Journal of Medical Genetics. Part A
|
June 9, 2012
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures
Gaelle Thierry, Claire Bénéteau, Olivier Pichon, et al.
American Journal of Medical Genetics. Part A
|
July 31, 2019
Phenotype delineation of ZNF462 related syndrome
Paul Kruszka, Tommy Hu, Sungkook Hong, et al.
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of 6