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Medrxiv : the Preprint Server for Health Sciences
|
July 1, 2024
Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements
Rebecca E Andersen, Ibrahim F Alkuraya, Abna Ajeesh, et al.
Acta Neuropathologica
|
July 24, 2024
Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease
Gannon A McDonough, Yuchen Cheng, Katherine S Morillo, et al.
Plos Genetics
|
May 9, 2018
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia
Erin L Heinzen, Adam C O'Neill, Xiaolin Zhu, et al.
Annals of Neurology
|
May 4, 2010
Developmental and degenerative features in a complicated spastic paraplegia
M Chiara Manzini, Anna Rajab, Thomas M Maynard, et al.
Cell
|
March 19, 2024
Contrasting somatic mutation patterns in aging human neurons and oligodendrocytes
Javier Ganz, Lovelace J Luquette, Sara Bizzotto, et al.
Nature Genetics
|
June 19, 2019
Recessive gene disruptions in autism spectrum disorder
Ryan N Doan, Elaine T Lim, Silvia De Rubeis, et al.
Genes & Development
|
March 5, 2015
Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt
Jernej Murn, Kathi Zarnack, Yawei J Yang, et al.
Human Molecular Genetics
|
June 14, 2014
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations
Stefania Di Costanzo, Anuradha Balasubramanian, Heather L Pond, et al.
Scientific Reports
|
August 22, 2020
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
Klaus Schmitz-Abe, Guzman Sanchez-Schmitz, Ryan N Doan, et al.
European Journal of Human Genetics : EJHG
|
August 20, 2021
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability
Natja Haag, Ene-Choo Tan, Matthias Begemann, et al.
Page
of 34
Search research articles
Search
Showing results (201-210 of 337) with videos related to
Sort By:
Page
of 34
Medrxiv : the Preprint Server for Health Sciences
|
July 1, 2024
Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements
Rebecca E Andersen, Ibrahim F Alkuraya, Abna Ajeesh, et al.
Acta Neuropathologica
|
July 24, 2024
Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease
Gannon A McDonough, Yuchen Cheng, Katherine S Morillo, et al.
Plos Genetics
|
May 9, 2018
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia
Erin L Heinzen, Adam C O'Neill, Xiaolin Zhu, et al.
Annals of Neurology
|
May 4, 2010
Developmental and degenerative features in a complicated spastic paraplegia
M Chiara Manzini, Anna Rajab, Thomas M Maynard, et al.
Cell
|
March 19, 2024
Contrasting somatic mutation patterns in aging human neurons and oligodendrocytes
Javier Ganz, Lovelace J Luquette, Sara Bizzotto, et al.
Nature Genetics
|
June 19, 2019
Recessive gene disruptions in autism spectrum disorder
Ryan N Doan, Elaine T Lim, Silvia De Rubeis, et al.
Genes & Development
|
March 5, 2015
Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt
Jernej Murn, Kathi Zarnack, Yawei J Yang, et al.
Human Molecular Genetics
|
June 14, 2014
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations
Stefania Di Costanzo, Anuradha Balasubramanian, Heather L Pond, et al.
Scientific Reports
|
August 22, 2020
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
Klaus Schmitz-Abe, Guzman Sanchez-Schmitz, Ryan N Doan, et al.
European Journal of Human Genetics : EJHG
|
August 20, 2021
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability
Natja Haag, Ene-Choo Tan, Matthias Begemann, et al.
Page
of 34