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American Journal of Medical Genetics. Part A
|
November 22, 2012
Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome
Laura K Conlin, Maninder Kaur, Kosuke Izumi, et al.
American Journal of Medical Genetics. Part A
|
December 11, 2012
Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array
Kosuke Izumi, Avni B Santani, Matthew A Deardorff, et al.
American Journal of Medical Genetics. Part A
|
July 23, 2013
Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations
Emily Gallant, Lauren Francey, Ellen A Tsai, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 9, 2025
Optical genome mapping improves clinical interpretation of constitutional copy number gains and reduces their VUS burden
Avinash V Dharmadhikari, Alexander L Markowitz, Jennifer Han, et al.
American Journal of Medical Genetics. Part A
|
June 23, 2021
Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome
Katheryn Grand, Cara M Skraban, Jennifer L Cohen, et al.
Scientific Reports
|
July 4, 2020
A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features
Daniel R Evans, Jane S Green, Somayyeh Fahiminiya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 22, 2025
Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Angelika L Erwin, Aya Abu El Haija, James T Bennett, et al.
American Journal of Medical Genetics. Part A
|
May 9, 2019
Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome
Jennifer L Cohen, Kelly A Duffy, Brian J Sajorda, et al.
American Journal of Medical Genetics. Part A
|
July 29, 2018
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features
Ganka Douglas, Megan T Cho, Aida Telegrafi, et al.
Human Mutation
|
August 25, 2009
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome
Jinglan Liu, Rachel Feldman, Zhe Zhang, et al.
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Showing results (51-60 of 128) with videos related to
Sort By:
Page
of 13
American Journal of Medical Genetics. Part A
|
November 22, 2012
Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome
Laura K Conlin, Maninder Kaur, Kosuke Izumi, et al.
American Journal of Medical Genetics. Part A
|
December 11, 2012
Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array
Kosuke Izumi, Avni B Santani, Matthew A Deardorff, et al.
American Journal of Medical Genetics. Part A
|
July 23, 2013
Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations
Emily Gallant, Lauren Francey, Ellen A Tsai, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 9, 2025
Optical genome mapping improves clinical interpretation of constitutional copy number gains and reduces their VUS burden
Avinash V Dharmadhikari, Alexander L Markowitz, Jennifer Han, et al.
American Journal of Medical Genetics. Part A
|
June 23, 2021
Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome
Katheryn Grand, Cara M Skraban, Jennifer L Cohen, et al.
Scientific Reports
|
July 4, 2020
A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features
Daniel R Evans, Jane S Green, Somayyeh Fahiminiya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 22, 2025
Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Angelika L Erwin, Aya Abu El Haija, James T Bennett, et al.
American Journal of Medical Genetics. Part A
|
May 9, 2019
Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome
Jennifer L Cohen, Kelly A Duffy, Brian J Sajorda, et al.
American Journal of Medical Genetics. Part A
|
July 29, 2018
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features
Ganka Douglas, Megan T Cho, Aida Telegrafi, et al.
Human Mutation
|
August 25, 2009
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome
Jinglan Liu, Rachel Feldman, Zhe Zhang, et al.
Page
of 13