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Matthew A Deardorff

Showing results (81-90 of 128) with videos related to

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American Journal of Medical Genetics. Part A|October 12, 2020
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patientsJennifer L Cohen, Samantha A Schrier Vergano, Sarah Mazzola, et al.
European Journal of Human Genetics : EJHG|January 11, 2019
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approachChao Wu, Batsal Devkota, Perry Evans, et al.
Human Molecular Genetics|April 19, 2017
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eyeYaqun Zou, Sandra Donkervoort, Antti M Salo, et al.
American Journal of Medical Genetics. Part A|July 31, 2013
PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disordersEllen A Tsai, Micah A Berman, Laura K Conlin, et al.
Pediatrics|February 28, 2020
A Centralized Approach for Practicing Genomic MedicineSawona Biswas, Livija Medne, Batsal Devkota, et al.
American Journal of Medical Genetics. Part A|May 6, 2017
Nomenclature and definition in asymmetric regional body overgrowthJennifer M Kalish, Leslie G Biesecker, Frederic Brioude, et al.
American Journal of Medical Genetics. Part A|July 21, 2020
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?Dong Li, Rebecca C Ahrens-Nicklas, Janice Baker, et al.
Nature Genetics|March 3, 2015
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesinKosuke Izumi, Ryuichiro Nakato, Zhe Zhang, et al.
European Journal of Human Genetics : EJHG|September 22, 2011
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interactionDiana Braunholz, Melanie Hullings, María Concepcion Gil-Rodríguez, et al.
Journal of Medical Genetics|November 22, 2014
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndromePaul Kruszka, Dong Li, Margaret H Harr, et al.
Pageof 13

Showing results (81-90 of 128) with videos related to

Sort By:
Pageof 13
American Journal of Medical Genetics. Part A|October 12, 2020
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patientsJennifer L Cohen, Samantha A Schrier Vergano, Sarah Mazzola, et al.
European Journal of Human Genetics : EJHG|January 11, 2019
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approachChao Wu, Batsal Devkota, Perry Evans, et al.
Human Molecular Genetics|April 19, 2017
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eyeYaqun Zou, Sandra Donkervoort, Antti M Salo, et al.
American Journal of Medical Genetics. Part A|July 31, 2013
PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disordersEllen A Tsai, Micah A Berman, Laura K Conlin, et al.
Pediatrics|February 28, 2020
A Centralized Approach for Practicing Genomic MedicineSawona Biswas, Livija Medne, Batsal Devkota, et al.
American Journal of Medical Genetics. Part A|May 6, 2017
Nomenclature and definition in asymmetric regional body overgrowthJennifer M Kalish, Leslie G Biesecker, Frederic Brioude, et al.
American Journal of Medical Genetics. Part A|July 21, 2020
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?Dong Li, Rebecca C Ahrens-Nicklas, Janice Baker, et al.
Nature Genetics|March 3, 2015
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesinKosuke Izumi, Ryuichiro Nakato, Zhe Zhang, et al.
European Journal of Human Genetics : EJHG|September 22, 2011
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interactionDiana Braunholz, Melanie Hullings, María Concepcion Gil-Rodríguez, et al.
Journal of Medical Genetics|November 22, 2014
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndromePaul Kruszka, Dong Li, Margaret H Harr, et al.
Pageof 13