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Kelly D Farwell

Showing results (21-30 of 30) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2019
A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnosesErica D Smith, Kirsten Blanco, Samin A Sajan, et al.
Neurology|March 21, 2014
Congenital lethal motor neuron disease with a novel defect in ribosome biogenesisRussell J Butterfield, Tamara J Stevenson, Lingyan Xing, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardizationCeleste Eno, Pinar Bayrak-Toydemir, Lora Bean, et al.
Human Genetics|March 12, 2014
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutationsLina Basel-Vanagaite, Rüstem Yilmaz, Sha Tang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2016
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseasesKelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 2, 2018
Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseasesKelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 31, 2014
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditionsKelly D Farwell, Layla Shahmirzadi, Dima El-Khechen, et al.
Genome Medicine|January 8, 2016
POGZ truncating alleles cause syndromic intellectual disabilityJanson White, Christine R Beck, Tamar Harel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2016
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratoriesJulianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, et al.
American Journal of Human Genetics|February 4, 2018
Functional Dysregulation of CDC42 Causes Diverse Developmental PhenotypesSimone Martinelli, Oliver H F Krumbach, Francesca Pantaleoni, et al.
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Showing results (21-30 of 30) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 30 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2019
A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnosesErica D Smith, Kirsten Blanco, Samin A Sajan, et al.
Neurology|March 21, 2014
Congenital lethal motor neuron disease with a novel defect in ribosome biogenesisRussell J Butterfield, Tamara J Stevenson, Lingyan Xing, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardizationCeleste Eno, Pinar Bayrak-Toydemir, Lora Bean, et al.
Human Genetics|March 12, 2014
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutationsLina Basel-Vanagaite, Rüstem Yilmaz, Sha Tang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2016
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseasesKelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 2, 2018
Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseasesKelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 31, 2014
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditionsKelly D Farwell, Layla Shahmirzadi, Dima El-Khechen, et al.
Genome Medicine|January 8, 2016
POGZ truncating alleles cause syndromic intellectual disabilityJanson White, Christine R Beck, Tamar Harel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2016
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratoriesJulianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, et al.
American Journal of Human Genetics|February 4, 2018
Functional Dysregulation of CDC42 Causes Diverse Developmental PhenotypesSimone Martinelli, Oliver H F Krumbach, Francesca Pantaleoni, et al.
Pageof 3