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Matthew A Deardorff

Showing results (101-110 of 128) with videos related to

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Nature Biotechnology|April 12, 2016
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseasesRong Chen, Lisong Shi, Jörg Hakenberg, et al.
American Journal of Human Genetics|April 2, 2019
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary ConditionsErfan Aref-Eshghi, Eric G Bend, Samantha Colaiacovo, et al.
Journal of Medical Genetics|October 2, 2015
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patientsMarcella Zollino, Giuseppe Marangi, Emanuela Ponzi, et al.
American Journal of Human Genetics|May 29, 2012
RAD21 mutations cause a human cohesinopathyMatthew A Deardorff, Jonathan J Wilde, Melanie Albrecht, et al.
American Journal of Medical Genetics. Part A|February 13, 2017
Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016Antonie D Kline, Ian D Krantz, Matthew A Deardorff, 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.
The Journal of Molecular Diagnostics : JMD|December 23, 2018
Automated Clinical Exome Reanalysis Reveals Novel DiagnosesSamuel W Baker, Jill R Murrell, Addie I Nesbitt, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational SymposiumAntonie D Kline, Anne L Calof, Arthur D Lander, et al.
The Journal of Molecular Diagnostics : JMD|January 22, 2022
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?Jill R Murrell, Addie May I Nesbitt, Samuel W Baker, et al.
Science Advances|May 13, 2021
Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Qin Wang, Naihua N Gong, et al.
Pageof 13

Showing results (101-110 of 128) with videos related to

Sort By:
Pageof 13
Nature Biotechnology|April 12, 2016
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseasesRong Chen, Lisong Shi, Jörg Hakenberg, et al.
American Journal of Human Genetics|April 2, 2019
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary ConditionsErfan Aref-Eshghi, Eric G Bend, Samantha Colaiacovo, et al.
Journal of Medical Genetics|October 2, 2015
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patientsMarcella Zollino, Giuseppe Marangi, Emanuela Ponzi, et al.
American Journal of Human Genetics|May 29, 2012
RAD21 mutations cause a human cohesinopathyMatthew A Deardorff, Jonathan J Wilde, Melanie Albrecht, et al.
American Journal of Medical Genetics. Part A|February 13, 2017
Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016Antonie D Kline, Ian D Krantz, Matthew A Deardorff, 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.
The Journal of Molecular Diagnostics : JMD|December 23, 2018
Automated Clinical Exome Reanalysis Reveals Novel DiagnosesSamuel W Baker, Jill R Murrell, Addie I Nesbitt, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational SymposiumAntonie D Kline, Anne L Calof, Arthur D Lander, et al.
The Journal of Molecular Diagnostics : JMD|January 22, 2022
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?Jill R Murrell, Addie May I Nesbitt, Samuel W Baker, et al.
Science Advances|May 13, 2021
Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Qin Wang, Naihua N Gong, et al.
Pageof 13