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Nucleic Acids Research
|
December 1, 2025
JASPAR 2026: expansion of transcription factor binding profiles and integration of deep learning models
Damla Ovek Baydar, Ieva Rauluseviciute, Dina R Aronsen, et al.
JCI Insight
|
December 21, 2018
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function
Xiao-Yan Wen, Maja Tarailo-Graovac, Koroboshka Brand-Arzamendi, et al.
American Journal of Human Genetics
|
July 19, 2011
VPS35 mutations in Parkinson disease
Carles Vilariño-Güell, Christian Wider, Owen A Ross, et al.
Molecular Genetics and Metabolism
|
January 15, 2018
The genotypic and phenotypic spectrum of MTO1 deficiency
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, et al.
Medrxiv : the Preprint Server for Health Sciences
|
September 19, 2025
Human germline biallelic loss-of-function <i>OSMR</i> variants cause severe allergic disease
Mehul Sharma, Simran Samra, Yihui Liu, et al.
Nature Communications
|
November 7, 2023
Transcriptional reprogramming by mutated IRF4 in lymphoma
Nikolai Schleussner, Pierre Cauchy, Vedran Franke, et al.
American Journal of Human Genetics
|
August 20, 2019
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
Clara D M van Karnebeek, Rúben J Ramos, Xiao-Yan Wen, et al.
Human Molecular Genetics
|
November 13, 2013
DNAJC13 mutations in Parkinson disease
Carles Vilariño-Güell, Alex Rajput, Austen J Milnerwood, et al.
The Journal of Experimental Medicine
|
July 31, 2025
ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma
Maggie P Fu, Mehul Sharma, Pariya Yousefi, et al.
Nature Genetics
|
May 24, 2016
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
Clara D M van Karnebeek, Luisa Bonafé, Xiao-Yan Wen, et al.
Page
of 18
Search research articles
Search
Showing results (151-160 of 172) with videos related to
Sort By:
Page
of 18
Nucleic Acids Research
|
December 1, 2025
JASPAR 2026: expansion of transcription factor binding profiles and integration of deep learning models
Damla Ovek Baydar, Ieva Rauluseviciute, Dina R Aronsen, et al.
JCI Insight
|
December 21, 2018
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function
Xiao-Yan Wen, Maja Tarailo-Graovac, Koroboshka Brand-Arzamendi, et al.
American Journal of Human Genetics
|
July 19, 2011
VPS35 mutations in Parkinson disease
Carles Vilariño-Güell, Christian Wider, Owen A Ross, et al.
Molecular Genetics and Metabolism
|
January 15, 2018
The genotypic and phenotypic spectrum of MTO1 deficiency
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, et al.
Medrxiv : the Preprint Server for Health Sciences
|
September 19, 2025
Human germline biallelic loss-of-function <i>OSMR</i> variants cause severe allergic disease
Mehul Sharma, Simran Samra, Yihui Liu, et al.
Nature Communications
|
November 7, 2023
Transcriptional reprogramming by mutated IRF4 in lymphoma
Nikolai Schleussner, Pierre Cauchy, Vedran Franke, et al.
American Journal of Human Genetics
|
August 20, 2019
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
Clara D M van Karnebeek, Rúben J Ramos, Xiao-Yan Wen, et al.
Human Molecular Genetics
|
November 13, 2013
DNAJC13 mutations in Parkinson disease
Carles Vilariño-Güell, Alex Rajput, Austen J Milnerwood, et al.
The Journal of Experimental Medicine
|
July 31, 2025
ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma
Maggie P Fu, Mehul Sharma, Pariya Yousefi, et al.
Nature Genetics
|
May 24, 2016
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
Clara D M van Karnebeek, Luisa Bonafé, Xiao-Yan Wen, et al.
Page
of 18