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Prenatal Diagnosis
|
December 11, 2021
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series
Marion Lesieur-Sebellin, Marianne Till, Philippe Khau Van Kien, et al.
American Journal of Medical Genetics. Part A
|
October 5, 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome
Guillaume Jouret, Matthieu Egloff, Emilie Landais, et al.
Clinical Genetics
|
December 6, 2021
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum
Roseline Vibert, Cyril Mignot, Boris Keren, et al.
Human Mutation
|
November 3, 2011
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum
Sandra Whalen, Delphine Héron, Thierry Gaillon, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 21, 2019
Data gaps and opportunities for comparative and conservation biology
Dalia A Conde, Johanna Staerk, Fernando Colchero, et al.
Clinical Genetics
|
October 21, 2016
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
S El Chehadeh, R Touraine, F Prieur, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 23, 2020
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome
Gerarda Cappuccio, Camille Sayou, Pauline Le Tanno, et al.
American Journal of Medical Genetics. Part A
|
October 1, 2015
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients
Salima El Chehadeh, Laurence Faivre, Anne-Laure Mosca-Boidron, et al.
NPJ Genomic Medicine
|
December 22, 2017
A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet, Thomas Rolland, Marie Ducloy, et al.
NPJ Genomic Medicine
|
July 10, 2019
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet, Thomas Rolland, Marie Ducloy, et al.
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of 25
Search research articles
Search
Showing results (231-240 of 247) with videos related to
Sort By:
Page
of 25
Prenatal Diagnosis
|
December 11, 2021
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series
Marion Lesieur-Sebellin, Marianne Till, Philippe Khau Van Kien, et al.
American Journal of Medical Genetics. Part A
|
October 5, 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome
Guillaume Jouret, Matthieu Egloff, Emilie Landais, et al.
Clinical Genetics
|
December 6, 2021
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum
Roseline Vibert, Cyril Mignot, Boris Keren, et al.
Human Mutation
|
November 3, 2011
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum
Sandra Whalen, Delphine Héron, Thierry Gaillon, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 21, 2019
Data gaps and opportunities for comparative and conservation biology
Dalia A Conde, Johanna Staerk, Fernando Colchero, et al.
Clinical Genetics
|
October 21, 2016
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
S El Chehadeh, R Touraine, F Prieur, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 23, 2020
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome
Gerarda Cappuccio, Camille Sayou, Pauline Le Tanno, et al.
American Journal of Medical Genetics. Part A
|
October 1, 2015
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients
Salima El Chehadeh, Laurence Faivre, Anne-Laure Mosca-Boidron, et al.
NPJ Genomic Medicine
|
December 22, 2017
A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet, Thomas Rolland, Marie Ducloy, et al.
NPJ Genomic Medicine
|
July 10, 2019
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet, Thomas Rolland, Marie Ducloy, et al.
Page
of 25