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American Journal of Human Genetics
|
January 11, 2025
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
Ivana Lessel, Anja Baresic, Ivan K Chinn, et al.
American Journal of Human Genetics
|
November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Sébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
American Journal of Human Genetics
|
March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Benjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
American Journal of Human Genetics
|
May 17, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathies
Sébastien Küry, Janelle E Stanton, Geeske van Woerden, et al.
Nature Communications
|
November 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, et al.
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Search research articles
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Showing results (31-40 of 36) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 36 results.
American Journal of Human Genetics
|
January 11, 2025
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
Ivana Lessel, Anja Baresic, Ivan K Chinn, et al.
American Journal of Human Genetics
|
November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Sébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
American Journal of Human Genetics
|
March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Benjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
American Journal of Human Genetics
|
May 17, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathies
Sébastien Küry, Janelle E Stanton, Geeske van Woerden, et al.
Nature Communications
|
November 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, et al.
Page
of 4