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Pawel Stankiewicz

Showing results (101-110 of 140) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2006
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridizationTrilochan Sahoo, Sau Wai Cheung, Patricia Ward, et al.
European Journal of Human Genetics : EJHG|May 23, 2013
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testingJoanna Wiszniewska, Weimin Bi, Chad Shaw, et al.
American Journal of Medical Genetics. Part A|July 4, 2007
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogeneticsSau W Cheung, Chad A Shaw, Daryl A Scott, et al.
Human Molecular Genetics|July 7, 2009
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architectureLisenka E L M Vissers, Samarth S Bhatt, Irene M Janssen, et al.
American Journal of Human Genetics|March 16, 2007
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeLorraine Potocki, Weimin Bi, Diane Treadwell-Deering, et al.
Human Molecular Genetics|August 26, 2011
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHEPatricia B S Celestino-Soper, Chad A Shaw, Stephan J Sanders, et al.
Human Molecular Genetics|May 1, 2012
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148Avinash V Dharmadhikari, Sung-Hae L Kang, Przemyslaw Szafranski, et al.
European Journal of Human Genetics : EJHG|April 17, 2014
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27Sirisha Peddibhotla, Sandesh C S Nagamani, Ayelet Erez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 11, 2016
The complex behavioral phenotype of 15q13.3 microdeletion syndromeMark N Ziats, Robin P Goin-Kochel, Leandra N Berry, et al.
European Journal of Human Genetics : EJHG|August 26, 2010
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairmentNicola Brunetti-Pierri, Alex R Paciorkowski, Roberto Ciccone, et al.
Pageof 14

Showing results (101-110 of 140) with videos related to

Sort By:
Pageof 14
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2006
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridizationTrilochan Sahoo, Sau Wai Cheung, Patricia Ward, et al.
European Journal of Human Genetics : EJHG|May 23, 2013
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testingJoanna Wiszniewska, Weimin Bi, Chad Shaw, et al.
American Journal of Medical Genetics. Part A|July 4, 2007
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogeneticsSau W Cheung, Chad A Shaw, Daryl A Scott, et al.
Human Molecular Genetics|July 7, 2009
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architectureLisenka E L M Vissers, Samarth S Bhatt, Irene M Janssen, et al.
American Journal of Human Genetics|March 16, 2007
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeLorraine Potocki, Weimin Bi, Diane Treadwell-Deering, et al.
Human Molecular Genetics|August 26, 2011
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHEPatricia B S Celestino-Soper, Chad A Shaw, Stephan J Sanders, et al.
Human Molecular Genetics|May 1, 2012
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148Avinash V Dharmadhikari, Sung-Hae L Kang, Przemyslaw Szafranski, et al.
European Journal of Human Genetics : EJHG|April 17, 2014
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27Sirisha Peddibhotla, Sandesh C S Nagamani, Ayelet Erez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 11, 2016
The complex behavioral phenotype of 15q13.3 microdeletion syndromeMark N Ziats, Robin P Goin-Kochel, Leandra N Berry, et al.
European Journal of Human Genetics : EJHG|August 26, 2010
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairmentNicola Brunetti-Pierri, Alex R Paciorkowski, Roberto Ciccone, et al.
Pageof 14