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Kelly D Farwell

Showing results (1-10 of 30) with videos related to

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Journal of Human Genetics|October 23, 2015
Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive patternZöe Powis, Kelly D Farwell, Christina L Alamillo, et al.
Mutation Research|December 31, 2002
Spontaneous tandem-base mutations (TBM) show dramatic tissue, age, pattern and spectrum specificityKathleen A Hill, Jicheng Wang, Kelly D Farwell, et al.
Mutation Research|September 29, 2004
Spontaneous multiple mutations show both proximal spacing consistent with chronocoordinate events and alterations with p53-deficiencyKathleen A Hill, Jicheng Wang, Kelly D Farwell, et al.
Pediatric Neurology|March 24, 2017
Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum DisordersMari Rossi, Dima El-Khechen, Mary Helen Black, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 12, 2013
Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencingLayla Shahmirzadi, Elizabeth C Chao, Erika Palmaer, et al.
Molecular Genetics & Genomic Medicine|October 16, 2018
Clinical whole-exome sequencing results impact medical managementNancy Niguidula, Christina Alamillo, Layla Shahmirzadi Mowlavi, et al.
Journal of Genetic Counseling|January 10, 2020
Facing the challenge of genetic counselors' need for rapid continuing education about genomic technologiesKelly D Farwell Hagman, Devon Lamb Thrush, Samantha Freeze, et al.
Journal of Genetic Counseling|November 26, 2021
Misattributed parentage identified through diagnostic exome sequencing: Frequency of detection and reporting practicesJulie Stefka, Dima El-Khechen, Taylor Cain, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
ELP2 is a novel gene implicated in neurodevelopmental disabilitiesJulie S Cohen, Siddharth Srivastava, Kelly D Farwell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2016
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsyKatherine L Helbig, Kelly D Farwell Hagman, Deepali N Shinde, et al.
Pageof 3

Showing results (1-10 of 30) with videos related to

Sort By:
Pageof 3
Journal of Human Genetics|October 23, 2015
Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive patternZöe Powis, Kelly D Farwell, Christina L Alamillo, et al.
Mutation Research|December 31, 2002
Spontaneous tandem-base mutations (TBM) show dramatic tissue, age, pattern and spectrum specificityKathleen A Hill, Jicheng Wang, Kelly D Farwell, et al.
Mutation Research|September 29, 2004
Spontaneous multiple mutations show both proximal spacing consistent with chronocoordinate events and alterations with p53-deficiencyKathleen A Hill, Jicheng Wang, Kelly D Farwell, et al.
Pediatric Neurology|March 24, 2017
Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum DisordersMari Rossi, Dima El-Khechen, Mary Helen Black, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 12, 2013
Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencingLayla Shahmirzadi, Elizabeth C Chao, Erika Palmaer, et al.
Molecular Genetics & Genomic Medicine|October 16, 2018
Clinical whole-exome sequencing results impact medical managementNancy Niguidula, Christina Alamillo, Layla Shahmirzadi Mowlavi, et al.
Journal of Genetic Counseling|January 10, 2020
Facing the challenge of genetic counselors' need for rapid continuing education about genomic technologiesKelly D Farwell Hagman, Devon Lamb Thrush, Samantha Freeze, et al.
Journal of Genetic Counseling|November 26, 2021
Misattributed parentage identified through diagnostic exome sequencing: Frequency of detection and reporting practicesJulie Stefka, Dima El-Khechen, Taylor Cain, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
ELP2 is a novel gene implicated in neurodevelopmental disabilitiesJulie S Cohen, Siddharth Srivastava, Kelly D Farwell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2016
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsyKatherine L Helbig, Kelly D Farwell Hagman, Deepali N Shinde, et al.
Pageof 3