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American Journal of Medical Genetics. Part A
|
July 30, 2008
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases
Lina Shao, Chad A Shaw, Xin-Yan Lu, et al.
Plos One
|
March 29, 2007
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases
Xinyan Lu, Chad A Shaw, Ankita Patel, et al.
Elife
|
August 28, 2015
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation
Vincenzo A Gennarino, Callison E Alcott, Chun-An Chen, et al.
American Journal of Medical Genetics. Part A
|
July 4, 2007
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics
Sau W Cheung, Chad A Shaw, Daryl A Scott, et al.
Plos One
|
September 10, 2014
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1
Carolina J Jorgez, Jill A Rosenfeld, Nathan R Wilken, 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 6q27
Sirisha Peddibhotla, Sandesh C S Nagamani, Ayelet Erez, et al.
Human Genetics
|
September 5, 2015
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene
Minaka Ishibashi, Elizabeth Manning, Cheryl Shoubridge, et al.
Genome Research
|
January 6, 2011
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes
Zhishuo Ou, Paweł Stankiewicz, Zhilian Xia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 16, 2019
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
Bettina E Mucha, Siddharth Banka, Norbert Fonya Ajeawung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 25, 2018
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
Bettina E Mucha, Siddharth Banka, Norbert Fonya Ajeawung, et al.
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of 4
Search research articles
Search
Showing results (21-30 of 33) with videos related to
Sort By:
Page
of 4
American Journal of Medical Genetics. Part A
|
July 30, 2008
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases
Lina Shao, Chad A Shaw, Xin-Yan Lu, et al.
Plos One
|
March 29, 2007
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases
Xinyan Lu, Chad A Shaw, Ankita Patel, et al.
Elife
|
August 28, 2015
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation
Vincenzo A Gennarino, Callison E Alcott, Chun-An Chen, et al.
American Journal of Medical Genetics. Part A
|
July 4, 2007
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics
Sau W Cheung, Chad A Shaw, Daryl A Scott, et al.
Plos One
|
September 10, 2014
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1
Carolina J Jorgez, Jill A Rosenfeld, Nathan R Wilken, 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 6q27
Sirisha Peddibhotla, Sandesh C S Nagamani, Ayelet Erez, et al.
Human Genetics
|
September 5, 2015
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene
Minaka Ishibashi, Elizabeth Manning, Cheryl Shoubridge, et al.
Genome Research
|
January 6, 2011
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes
Zhishuo Ou, Paweł Stankiewicz, Zhilian Xia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 16, 2019
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
Bettina E Mucha, Siddharth Banka, Norbert Fonya Ajeawung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 25, 2018
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
Bettina E Mucha, Siddharth Banka, Norbert Fonya Ajeawung, et al.
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of 4