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Journal of Child Neurology
|
April 22, 2015
CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene
Gali Heimer, Yair Sadaka, Lori Israelian, et al.
NPJ Genomic Medicine
|
November 29, 2025
UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature
Miriam S Reuter, Nelson Bautista Salazar, Jennifer L Howe, et al.
International Journal of Molecular Sciences
|
March 6, 2021
Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome
Ghausia Begum, Ammar Albanna, Asma Bankapur, et al.
Journal of Neurodevelopmental Disorders
|
August 30, 2014
Copy number variation in Han Chinese individuals with autism spectrum disorder
Matthew J Gazzellone, Xue Zhou, Anath C Lionel, et al.
Nature Genetics
|
May 18, 2010
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Simone Berkel, Christian R Marshall, Birgit Weiss, et al.
Human Genomics
|
November 22, 2021
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells
Nasna Nassir, Asma Bankapur, Bisan Samara, et al.
Annals of Neurology
|
February 16, 1999
Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy
B A Minassian, J Sainz, J M Serratosa, et al.
Gastroenterology
|
June 19, 2014
Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency
Taina T Nieminen, Marie-Françoise O'Donohue, Yunpeng Wu, et al.
Journal of Medical Genetics
|
March 25, 2011
Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions
Ann M Joseph-George, Yongshu He, Christian R Marshall, et al.
Human Molecular Genetics
|
July 2, 2013
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays
Gregory Costain, Anath C Lionel, Daniele Merico, et al.
Page
of 92
Search research articles
Search
Showing results (621-630 of 915) with videos related to
Sort By:
Page
of 92
Journal of Child Neurology
|
April 22, 2015
CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene
Gali Heimer, Yair Sadaka, Lori Israelian, et al.
NPJ Genomic Medicine
|
November 29, 2025
UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature
Miriam S Reuter, Nelson Bautista Salazar, Jennifer L Howe, et al.
International Journal of Molecular Sciences
|
March 6, 2021
Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome
Ghausia Begum, Ammar Albanna, Asma Bankapur, et al.
Journal of Neurodevelopmental Disorders
|
August 30, 2014
Copy number variation in Han Chinese individuals with autism spectrum disorder
Matthew J Gazzellone, Xue Zhou, Anath C Lionel, et al.
Nature Genetics
|
May 18, 2010
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Simone Berkel, Christian R Marshall, Birgit Weiss, et al.
Human Genomics
|
November 22, 2021
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells
Nasna Nassir, Asma Bankapur, Bisan Samara, et al.
Annals of Neurology
|
February 16, 1999
Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy
B A Minassian, J Sainz, J M Serratosa, et al.
Gastroenterology
|
June 19, 2014
Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency
Taina T Nieminen, Marie-Françoise O'Donohue, Yunpeng Wu, et al.
Journal of Medical Genetics
|
March 25, 2011
Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions
Ann M Joseph-George, Yongshu He, Christian R Marshall, et al.
Human Molecular Genetics
|
July 2, 2013
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays
Gregory Costain, Anath C Lionel, Daniele Merico, et al.
Page
of 92