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Human Molecular Genetics
|
February 16, 2018
A recurrent de novo missense mutation in UBTF causes developmental neuroregression
Camilo Toro, Roderick T Hori, May Christine V Malicdan, et al.
American Journal of Human Genetics
|
December 27, 2016
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, et al.
Plos Genetics
|
June 17, 2020
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development
Bernardo Blanco-Sánchez, Aurélie Clément, Sara J Stednitz, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 19, 2019
Small-molecule allosteric activators of PDE4 long form cyclic AMP phosphodiesterases
Faisa Omar, Jane E Findlay, Gemma Carfray, et al.
Plos Genetics
|
October 26, 2020
Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development
Bernardo Blanco-Sánchez, Aurélie Clément, Sarah J Stednitz, et al.
Orphanet Journal of Rare Diseases
|
May 16, 2016
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability
Valerie Maduro, Barbara N Pusey, Praveen F Cherukuri, et al.
NPJ Genomic Medicine
|
February 10, 2023
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
Marie Morimoto, Vikas Bhambhani, Nour Gazzaz, et al.
Biorxiv : the Preprint Server for Biology
|
February 14, 2024
Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia
Maria Gabriela Otero, Jaemin Kim, Yogesh Kumar Kushwaha, et al.
Biorxiv : the Preprint Server for Biology
|
June 5, 2026
Targeting melanosome pH is an effective method for the treatment of oculocutaneous albinism
Samuel J Grondin, Daniela St Pierre, David J Green, et al.
Bioorganic & Medicinal Chemistry Letters
|
April 15, 2008
Antagonists of the human adenosine A2A receptor. Part 1: Discovery and synthesis of thieno[3,2-d]pyrimidine-4-methanone derivatives
Roger J Gillespie, David R Adams, David Bebbington, et al.
Page
of 21
Search research articles
Search
Showing results (171-180 of 207) with videos related to
Sort By:
Page
of 21
Human Molecular Genetics
|
February 16, 2018
A recurrent de novo missense mutation in UBTF causes developmental neuroregression
Camilo Toro, Roderick T Hori, May Christine V Malicdan, et al.
American Journal of Human Genetics
|
December 27, 2016
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, et al.
Plos Genetics
|
June 17, 2020
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development
Bernardo Blanco-Sánchez, Aurélie Clément, Sara J Stednitz, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 19, 2019
Small-molecule allosteric activators of PDE4 long form cyclic AMP phosphodiesterases
Faisa Omar, Jane E Findlay, Gemma Carfray, et al.
Plos Genetics
|
October 26, 2020
Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development
Bernardo Blanco-Sánchez, Aurélie Clément, Sarah J Stednitz, et al.
Orphanet Journal of Rare Diseases
|
May 16, 2016
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability
Valerie Maduro, Barbara N Pusey, Praveen F Cherukuri, et al.
NPJ Genomic Medicine
|
February 10, 2023
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
Marie Morimoto, Vikas Bhambhani, Nour Gazzaz, et al.
Biorxiv : the Preprint Server for Biology
|
February 14, 2024
Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia
Maria Gabriela Otero, Jaemin Kim, Yogesh Kumar Kushwaha, et al.
Biorxiv : the Preprint Server for Biology
|
June 5, 2026
Targeting melanosome pH is an effective method for the treatment of oculocutaneous albinism
Samuel J Grondin, Daniela St Pierre, David J Green, et al.
Bioorganic & Medicinal Chemistry Letters
|
April 15, 2008
Antagonists of the human adenosine A2A receptor. Part 1: Discovery and synthesis of thieno[3,2-d]pyrimidine-4-methanone derivatives
Roger J Gillespie, David R Adams, David Bebbington, et al.
Page
of 21