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American Journal of Medical Genetics. Part A
|
January 21, 2016
Postnatal outcomes of prenatally diagnosed 45,X/46,XX
Mari J Tokita, Virginia P Sybert
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|
December 25, 2025
Basic Science and Pathogenesis
Mari J Tokita, Justin Y Kwan, Andrew J Oler, et al.
Cold Spring Harbor Molecular Case Studies
|
October 19, 2019
Biallelic loss of <i>GNAS</i> in a patient with pediatric medulloblastoma
Mari J Tokita, Shareef Nahas, Benjamin Briggs, et al.
European Journal of Human Genetics : EJHG
|
October 2, 2014
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3
Mari J Tokita, Penny M Chow, Ghayda Mirzaa, et al.
Neuro-Oncology
|
August 21, 2014
Periostin is a novel therapeutic target that predicts and regulates glioma malignancy
Andrei M Mikheev, Svetlana A Mikheeva, Andrew D Trister, et al.
Genome Medicine
|
July 28, 2019
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
Ye Cao, Mari J Tokita, Edward S Chen, et al.
Molecular Cell
|
February 18, 2010
Swe1Wee1-dependent tyrosine phosphorylation of Hsp90 regulates distinct facets of chaperone function
Mehdi Mollapour, Shinji Tsutsumi, Alison C Donnelly, et al.
American Journal of Human Genetics
|
August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive
Mari J Tokita, Alicia A Braxton, Yunru Shao, et al.
American Journal of Human Genetics
|
September 24, 2013
Actionable, pathogenic incidental findings in 1,000 participants' exomes
Michael O Dorschner, Laura M Amendola, Emily H Turner, et al.
Human Mutation
|
December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
Atteeq U Rehman, Maryam Najafi, Marios Kambouris, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 18) with videos related to
Sort By:
Page
of 2
American Journal of Medical Genetics. Part A
|
January 21, 2016
Postnatal outcomes of prenatally diagnosed 45,X/46,XX
Mari J Tokita, Virginia P Sybert
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|
December 25, 2025
Basic Science and Pathogenesis
Mari J Tokita, Justin Y Kwan, Andrew J Oler, et al.
Cold Spring Harbor Molecular Case Studies
|
October 19, 2019
Biallelic loss of <i>GNAS</i> in a patient with pediatric medulloblastoma
Mari J Tokita, Shareef Nahas, Benjamin Briggs, et al.
European Journal of Human Genetics : EJHG
|
October 2, 2014
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3
Mari J Tokita, Penny M Chow, Ghayda Mirzaa, et al.
Neuro-Oncology
|
August 21, 2014
Periostin is a novel therapeutic target that predicts and regulates glioma malignancy
Andrei M Mikheev, Svetlana A Mikheeva, Andrew D Trister, et al.
Genome Medicine
|
July 28, 2019
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
Ye Cao, Mari J Tokita, Edward S Chen, et al.
Molecular Cell
|
February 18, 2010
Swe1Wee1-dependent tyrosine phosphorylation of Hsp90 regulates distinct facets of chaperone function
Mehdi Mollapour, Shinji Tsutsumi, Alison C Donnelly, et al.
American Journal of Human Genetics
|
August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive
Mari J Tokita, Alicia A Braxton, Yunru Shao, et al.
American Journal of Human Genetics
|
September 24, 2013
Actionable, pathogenic incidental findings in 1,000 participants' exomes
Michael O Dorschner, Laura M Amendola, Emily H Turner, et al.
Human Mutation
|
December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
Atteeq U Rehman, Maryam Najafi, Marios Kambouris, et al.
Page
of 2