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Swaroop Aradhya

Showing results (71-80 of 87) with videos related to

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Human Molecular Genetics|September 20, 2008
Mutations in the calcium-related gene IL1RAPL1 are associated with autismAmélie Piton, Jacques L Michaud, Huashan Peng, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotypeJudith Allanson, Amanda Smith, Heather Hare, et al.
Molecular Genetics & Genomic Medicine|October 17, 2022
Scalable detection of technically challenging variants through modified next-generation sequencingSusan Rojahn, Tina Hambuch, Jessika Adrian, et al.
American Journal of Medical Genetics. Part A|August 1, 2012
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterizationCheryl DeScipio, Laura Conlin, Jill Rosenfeld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2021
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementationStephen E Lincoln, Tina Hambuch, Justin M Zook, et al.
BMC Medicine|August 18, 2021
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort studyEden V Haverfield, Edward D Esplin, Sienna J Aguilar, et al.
BMC Medicine|November 4, 2021
Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort studyEden V Haverfield, Edward D Esplin, Sienna J Aguilar, et al.
European Journal of Human Genetics : EJHG|May 2, 2013
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorderSureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
The phenotype of recurrent 10q22q23 deletions and duplicationsBregje W M van Bon, Jorune Balciuniene, Gary Fruhman, et al.
American Journal of Human Genetics|May 15, 2010
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesDavid T Miller, Margaret P Adam, Swaroop Aradhya, et al.
Pageof 9

Showing results (71-80 of 87) with videos related to

Sort By:
Pageof 9
Human Molecular Genetics|September 20, 2008
Mutations in the calcium-related gene IL1RAPL1 are associated with autismAmélie Piton, Jacques L Michaud, Huashan Peng, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotypeJudith Allanson, Amanda Smith, Heather Hare, et al.
Molecular Genetics & Genomic Medicine|October 17, 2022
Scalable detection of technically challenging variants through modified next-generation sequencingSusan Rojahn, Tina Hambuch, Jessika Adrian, et al.
American Journal of Medical Genetics. Part A|August 1, 2012
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterizationCheryl DeScipio, Laura Conlin, Jill Rosenfeld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2021
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementationStephen E Lincoln, Tina Hambuch, Justin M Zook, et al.
BMC Medicine|August 18, 2021
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort studyEden V Haverfield, Edward D Esplin, Sienna J Aguilar, et al.
BMC Medicine|November 4, 2021
Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort studyEden V Haverfield, Edward D Esplin, Sienna J Aguilar, et al.
European Journal of Human Genetics : EJHG|May 2, 2013
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorderSureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
The phenotype of recurrent 10q22q23 deletions and duplicationsBregje W M van Bon, Jorune Balciuniene, Gary Fruhman, et al.
American Journal of Human Genetics|May 15, 2010
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesDavid T Miller, Margaret P Adam, Swaroop Aradhya, et al.
Pageof 9