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Scandinavian Journal of Gastroenterology
|
August 16, 2014
Epidemiology and clinical characteristics of autoimmune hepatitis in the Netherlands
Nicole M F van Gerven, Bart J Verwer, Birgit I Witte, et al.
American Journal of Human Genetics
|
July 31, 2020
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing
Anna Fliedner, Philipp Kirchner, Antje Wiesener, et al.
Translational Psychiatry
|
October 1, 2022
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
Alexander J M Dingemans, Kim M G Truijen, Sam van de Ven, et al.
Human Genetics
|
May 4, 2021
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
Ilaria Parenti, Daphné Lehalle, Caroline Nava, et al.
European Journal of Medical Genetics
|
March 21, 2015
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
Saskia M Maas, Adam C Shaw, Hennie Bikker, et al.
Nature Genetics
|
February 28, 2012
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
Jeroen K J Van Houdt, Beata Anna Nowakowska, Sérgio B Sousa, et al.
The New England Journal of Medicine
|
October 23, 2018
MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease
Pierre-Antoine Juge, Joyce S Lee, Esther Ebstein, et al.
American Journal of Human Genetics
|
November 19, 2025
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
Ariane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, et al.
The Journal of Clinical Investigation
|
September 18, 2025
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Aymeric Masson, Julien Paccaud, Martina Orefice, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 18, 2021
DLG4-related synaptopathy: a new rare brain disorder
Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, et al.
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Search research articles
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Showing results (471-480 of 480) with videos related to
Sort By:
Page
of 48
You have reached the last page of results.
This site can display upto 480 results.
Scandinavian Journal of Gastroenterology
|
August 16, 2014
Epidemiology and clinical characteristics of autoimmune hepatitis in the Netherlands
Nicole M F van Gerven, Bart J Verwer, Birgit I Witte, et al.
American Journal of Human Genetics
|
July 31, 2020
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing
Anna Fliedner, Philipp Kirchner, Antje Wiesener, et al.
Translational Psychiatry
|
October 1, 2022
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
Alexander J M Dingemans, Kim M G Truijen, Sam van de Ven, et al.
Human Genetics
|
May 4, 2021
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
Ilaria Parenti, Daphné Lehalle, Caroline Nava, et al.
European Journal of Medical Genetics
|
March 21, 2015
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
Saskia M Maas, Adam C Shaw, Hennie Bikker, et al.
Nature Genetics
|
February 28, 2012
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
Jeroen K J Van Houdt, Beata Anna Nowakowska, Sérgio B Sousa, et al.
The New England Journal of Medicine
|
October 23, 2018
MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease
Pierre-Antoine Juge, Joyce S Lee, Esther Ebstein, et al.
American Journal of Human Genetics
|
November 19, 2025
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
Ariane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, et al.
The Journal of Clinical Investigation
|
September 18, 2025
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Aymeric Masson, Julien Paccaud, Martina Orefice, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 18, 2021
DLG4-related synaptopathy: a new rare brain disorder
Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, et al.
Page
of 48