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Nature Genetics
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July 19, 2016
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
Eric M Scott, Anason Halees, Yuval Itan, et al.
Nucleic Acids Research
|
July 6, 2019
NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs
Lindsey Van Haute, Song-Yi Lee, Beverly J McCann, et al.
American Journal of Medical Genetics. Part A
|
August 19, 2023
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome
M Makenzie Beaman, Lucia Guidugli, Monia Hammer, et al.
American Journal of Human Genetics
|
March 12, 2013
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities
Farid Radmanesh, Ahmet Okay Caglayan, Jennifer L Silhavy, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
January 7, 2021
Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance
Franck Rapaport, Bertrand Boisson, Anne Gregor, et al.
Nature Genetics
|
June 26, 2012
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
Jeong Ho Lee, My Huynh, Jennifer L Silhavy, et al.
Biorxiv : the Preprint Server for Biology
|
November 14, 2023
Cell-type-resolved somatic mosaicism reveals clonal dynamics of the human forebrain
Changuk Chung, Xiaoxu Yang, Robert F Hevner, et al.
Journal of Medical Genetics
|
June 20, 2017
A homozygous founder mutation in <i>TRAPPC6B</i> associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features
Isaac Marin-Valencia, Gaia Novarino, Anide Johansen, et al.
Nature Communications
|
February 16, 2021
Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
Lu Wang, Zhen Li, David Sievert, et al.
Plos Biology
|
June 15, 2019
Cytosine-5 RNA methylation links protein synthesis to cell metabolism
Nikoletta A Gkatza, Cecilia Castro, Robert F Harvey, et al.
Page
of 33
Search research articles
Search
Showing results (141-150 of 325) with videos related to
Sort By:
Page
of 33
Nature Genetics
|
July 19, 2016
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
Eric M Scott, Anason Halees, Yuval Itan, et al.
Nucleic Acids Research
|
July 6, 2019
NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs
Lindsey Van Haute, Song-Yi Lee, Beverly J McCann, et al.
American Journal of Medical Genetics. Part A
|
August 19, 2023
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome
M Makenzie Beaman, Lucia Guidugli, Monia Hammer, et al.
American Journal of Human Genetics
|
March 12, 2013
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities
Farid Radmanesh, Ahmet Okay Caglayan, Jennifer L Silhavy, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
January 7, 2021
Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance
Franck Rapaport, Bertrand Boisson, Anne Gregor, et al.
Nature Genetics
|
June 26, 2012
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
Jeong Ho Lee, My Huynh, Jennifer L Silhavy, et al.
Biorxiv : the Preprint Server for Biology
|
November 14, 2023
Cell-type-resolved somatic mosaicism reveals clonal dynamics of the human forebrain
Changuk Chung, Xiaoxu Yang, Robert F Hevner, et al.
Journal of Medical Genetics
|
June 20, 2017
A homozygous founder mutation in <i>TRAPPC6B</i> associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features
Isaac Marin-Valencia, Gaia Novarino, Anide Johansen, et al.
Nature Communications
|
February 16, 2021
Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
Lu Wang, Zhen Li, David Sievert, et al.
Plos Biology
|
June 15, 2019
Cytosine-5 RNA methylation links protein synthesis to cell metabolism
Nikoletta A Gkatza, Cecilia Castro, Robert F Harvey, et al.
Page
of 33