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Sulagna C Saitta

Showing results (11-20 of 30) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 15, 2009
Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGHSara Anne Adams, Justine Coppinger, Sulagna C Saitta, et al.
The Journal of Physiology|August 25, 2020
Tracking the motion of the K<sub>V</sub>1.2 voltage sensor reveals the molecular perturbations caused by a de novo mutation in a case of epilepsyAntonios Pantazis, Maki Kaneko, Marina Angelini, et al.
Human Mutation|December 2, 2010
High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndromeTracy Busse, John M Graham, Gerald Feldman, et al.
American Journal of Medical Genetics. Part A|November 26, 2010
Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpointsMarzena Gajecka, Sulagna C Saitta, Andrew J Gentles, et al.
Genome Research|March 14, 2007
Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanismsTamim H Shaikh, Ronald J O'Connor, Mary Ella Pierpont, et al.
American Journal of Medical Genetics. Part A|April 4, 2017
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcomaJianling Ji, Catherine Quindipan, David Parham, et al.
American Journal of Medical Genetics. Part A|January 7, 2004
Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndromeSulagna C Saitta, Stacy E Harris, Donna M McDonald-McGinn, et al.
Cold Spring Harbor Molecular Case Studies|February 14, 2019
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variantsJianling Ji, Lishuang Shen, Moiz Bootwalla, et al.
American Journal of Medical Genetics. Part A|November 22, 2012
Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical regionKosuke Izumi, Laura K Conlin, Donna Berrodin, et al.
Pediatric Neurology|November 22, 2020
Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical CareCatherine Quindipan, Jennifer A Cotter, Jianling Ji, et al.
Pageof 3

Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 15, 2009
Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGHSara Anne Adams, Justine Coppinger, Sulagna C Saitta, et al.
The Journal of Physiology|August 25, 2020
Tracking the motion of the K<sub>V</sub>1.2 voltage sensor reveals the molecular perturbations caused by a de novo mutation in a case of epilepsyAntonios Pantazis, Maki Kaneko, Marina Angelini, et al.
Human Mutation|December 2, 2010
High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndromeTracy Busse, John M Graham, Gerald Feldman, et al.
American Journal of Medical Genetics. Part A|November 26, 2010
Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpointsMarzena Gajecka, Sulagna C Saitta, Andrew J Gentles, et al.
Genome Research|March 14, 2007
Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanismsTamim H Shaikh, Ronald J O'Connor, Mary Ella Pierpont, et al.
American Journal of Medical Genetics. Part A|April 4, 2017
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcomaJianling Ji, Catherine Quindipan, David Parham, et al.
American Journal of Medical Genetics. Part A|January 7, 2004
Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndromeSulagna C Saitta, Stacy E Harris, Donna M McDonald-McGinn, et al.
Cold Spring Harbor Molecular Case Studies|February 14, 2019
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variantsJianling Ji, Lishuang Shen, Moiz Bootwalla, et al.
American Journal of Medical Genetics. Part A|November 22, 2012
Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical regionKosuke Izumi, Laura K Conlin, Donna Berrodin, et al.
Pediatric Neurology|November 22, 2020
Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical CareCatherine Quindipan, Jennifer A Cotter, Jianling Ji, et al.
Pageof 3