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Current Protocols in Human Genetics
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October 5, 2010
Diagnosis of cryptic chromosomal syndromes by fluorescence in situ hybridization (FISH)
Catherine D Kashork, Aaron Theisen, Lisa G Shaffer
Methods in Molecular Biology (Clifton, N.J.)
|
April 22, 2008
Prenatal diagnosis using array CGH
Catherine D Kashork, Aaron Theisen, Lisa G Shaffer
Annals of the New York Academy of Sciences
|
November 1, 2017
Prenatal Diagnosis of Charcot-Marie-Tooth Disease Type 1A
Catherine D Kashork, Ken-Shiung Chen, James R Lupski, et al.
Human Molecular Genetics
|
August 14, 2003
Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions
Blake C Ballif, Wei Yu, Chad A Shaw, et al.
Genes, Chromosomes & Cancer
|
September 25, 2004
Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes
Roberto Mendoza-Londono, Catherine D Kashork, Lisa G Shaffer, et al.
American Journal of Medical Genetics
|
September 20, 2002
Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms
V Reid Sutton, Karen J Coveler, Seema R Lalani, et al.
Methods in Molecular Medicine
|
October 31, 2006
Comparative genomic hybridization by microarray for the detection of cytogenetic imbalance
Malgorzata Jarmuz, Blake C Ballif, Catherine D Kashork, et al.
Prenatal Diagnosis
|
February 24, 2006
Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization
Blake C Ballif, Catherine D Kashork, Reza Saleki, et al.
The Journal of Pediatrics
|
July 25, 2006
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
Lisa G Shaffer, Catherine D Kashork, Reza Saleki, et al.
American Journal of Medical Genetics
|
February 22, 2002
Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation
André Mégarbané, Bassem A Bejjani, Lisa G Shaffer, et al.
Page
of 3
Search research articles
Search
Showing results (1-10 of 23) with videos related to
Sort By:
Page
of 3
Current Protocols in Human Genetics
|
October 5, 2010
Diagnosis of cryptic chromosomal syndromes by fluorescence in situ hybridization (FISH)
Catherine D Kashork, Aaron Theisen, Lisa G Shaffer
Methods in Molecular Biology (Clifton, N.J.)
|
April 22, 2008
Prenatal diagnosis using array CGH
Catherine D Kashork, Aaron Theisen, Lisa G Shaffer
Annals of the New York Academy of Sciences
|
November 1, 2017
Prenatal Diagnosis of Charcot-Marie-Tooth Disease Type 1A
Catherine D Kashork, Ken-Shiung Chen, James R Lupski, et al.
Human Molecular Genetics
|
August 14, 2003
Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions
Blake C Ballif, Wei Yu, Chad A Shaw, et al.
Genes, Chromosomes & Cancer
|
September 25, 2004
Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes
Roberto Mendoza-Londono, Catherine D Kashork, Lisa G Shaffer, et al.
American Journal of Medical Genetics
|
September 20, 2002
Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms
V Reid Sutton, Karen J Coveler, Seema R Lalani, et al.
Methods in Molecular Medicine
|
October 31, 2006
Comparative genomic hybridization by microarray for the detection of cytogenetic imbalance
Malgorzata Jarmuz, Blake C Ballif, Catherine D Kashork, et al.
Prenatal Diagnosis
|
February 24, 2006
Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization
Blake C Ballif, Catherine D Kashork, Reza Saleki, et al.
The Journal of Pediatrics
|
July 25, 2006
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
Lisa G Shaffer, Catherine D Kashork, Reza Saleki, et al.
American Journal of Medical Genetics
|
February 22, 2002
Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation
André Mégarbané, Bassem A Bejjani, Lisa G Shaffer, et al.
Page
of 3