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Matthew N Bainbridge

Showing results (51-60 of 67) with videos related to

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Neuro-Oncology|April 12, 2014
Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancerUlrika Andersson, Carl Wibom, Kristina Cederquist, et al.
American Journal of Human Genetics|May 6, 2014
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apneaFan Xia, Matthew N Bainbridge, Tiong Yang Tan, et al.
Annals of Clinical and Translational Neurology|February 9, 2025
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variantsRiley M McCarty, Dimah Saade, Pinki Munot, et al.
Brain : a Journal of Neurology|June 23, 2022
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndromeMatthew N Bainbridge, Aloran Mazumder, Daisuke Ogasawara, et al.
American Journal of Human Genetics|October 1, 2019
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill InfantsStephen F Kingsmore, Julie A Cakici, Michelle M Clark, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2019
Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tractAlexandria T M Blackburn, Nasim Bekheirnia, Vanessa C Uma, et al.
Cell Reports|August 11, 2015
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyClaudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2019
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tractAlexandria T M Blackburn, Nasim Bekheirnia, Vanessa C Uma, et al.
Scientific Reports|February 6, 2015
Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene ConsortiumAli Jalali, E Susan Amirian, Matthew N Bainbridge, et al.
Cell|April 29, 2014
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system functionEnder Karaca, Stefan Weitzer, Davut Pehlivan, et al.
Pageof 7

Showing results (51-60 of 67) with videos related to

Sort By:
Pageof 7
Neuro-Oncology|April 12, 2014
Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancerUlrika Andersson, Carl Wibom, Kristina Cederquist, et al.
American Journal of Human Genetics|May 6, 2014
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apneaFan Xia, Matthew N Bainbridge, Tiong Yang Tan, et al.
Annals of Clinical and Translational Neurology|February 9, 2025
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variantsRiley M McCarty, Dimah Saade, Pinki Munot, et al.
Brain : a Journal of Neurology|June 23, 2022
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndromeMatthew N Bainbridge, Aloran Mazumder, Daisuke Ogasawara, et al.
American Journal of Human Genetics|October 1, 2019
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill InfantsStephen F Kingsmore, Julie A Cakici, Michelle M Clark, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2019
Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tractAlexandria T M Blackburn, Nasim Bekheirnia, Vanessa C Uma, et al.
Cell Reports|August 11, 2015
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyClaudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2019
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tractAlexandria T M Blackburn, Nasim Bekheirnia, Vanessa C Uma, et al.
Scientific Reports|February 6, 2015
Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene ConsortiumAli Jalali, E Susan Amirian, Matthew N Bainbridge, et al.
Cell|April 29, 2014
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system functionEnder Karaca, Stefan Weitzer, Davut Pehlivan, et al.
Pageof 7