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American Journal of Human Genetics
|
December 20, 2024
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus
Marcello Scala, Clarrisa A Bradley, Jennifer L Howe, et al.
Cell
|
April 29, 2014
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration
Ashleigh E Schaffer, Veerle R C Eggens, Ahmet Okay Caglayan, et al.
Orphanet Journal of Rare Diseases
|
March 19, 2021
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Ulrike Hüffmeier, Cornelia Kraus, Miriam S Reuter, et al.
Human Genetics
|
October 20, 2014
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
Alma Kuechler, Marjolein H Willemsen, Beate Albrecht, et al.
European Journal of Human Genetics : EJHG
|
August 29, 2023
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology
Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, et al.
BMC Genomic Data
|
May 2, 2023
HostSeq: a Canadian whole genome sequencing and clinical data resource
S Yoo, E Garg, L T Elliott, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2017
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Anath C Lionel, Gregory Costain, Nasim Monfared, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne
|
February 13, 2018
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants
Miriam S Reuter, Susan Walker, Bhooma Thiruvahindrapuram, et al.
Nature Genetics
|
December 20, 2016
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
Esther Meyer, Keren J Carss, Julia Rankin, et al.
Nature
|
May 13, 2026
An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism
Clarrisa A Bradley, Sangyoon Y Ko, Meng Tian, et al.
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Search research articles
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Showing results (161-170 of 172) with videos related to
Sort By:
Page
of 18
American Journal of Human Genetics
|
December 20, 2024
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus
Marcello Scala, Clarrisa A Bradley, Jennifer L Howe, et al.
Cell
|
April 29, 2014
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration
Ashleigh E Schaffer, Veerle R C Eggens, Ahmet Okay Caglayan, et al.
Orphanet Journal of Rare Diseases
|
March 19, 2021
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Ulrike Hüffmeier, Cornelia Kraus, Miriam S Reuter, et al.
Human Genetics
|
October 20, 2014
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
Alma Kuechler, Marjolein H Willemsen, Beate Albrecht, et al.
European Journal of Human Genetics : EJHG
|
August 29, 2023
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology
Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, et al.
BMC Genomic Data
|
May 2, 2023
HostSeq: a Canadian whole genome sequencing and clinical data resource
S Yoo, E Garg, L T Elliott, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2017
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Anath C Lionel, Gregory Costain, Nasim Monfared, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne
|
February 13, 2018
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants
Miriam S Reuter, Susan Walker, Bhooma Thiruvahindrapuram, et al.
Nature Genetics
|
December 20, 2016
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
Esther Meyer, Keren J Carss, Julia Rankin, et al.
Nature
|
May 13, 2026
An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism
Clarrisa A Bradley, Sangyoon Y Ko, Meng Tian, et al.
Page
of 18