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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 29, 2016
Section E6.1-6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow-acquired chromosomal abnormalities
Fady M Mikhail, Nyla A Heerema, Kathleen W Rao, et al.
American Journal of Medical Genetics. Part A
|
August 9, 2018
Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN
Rachel D Burnside, Sharon Molinari, Christina Botti, et al.
American Journal of Medical Genetics. Part A
|
June 18, 2009
Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication
Rachel D Burnside, Edward J Lose, Maria G Domínguez, et al.
American Journal of Medical Genetics. Part A
|
May 20, 2011
UPD detection using homozygosity profiling with a SNP genotyping microarray
Peter Papenhausen, Stuart Schwartz, Hiba Risheg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 15, 2013
The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system
Fady M Mikhail, Rachel D Burnside, Brooke Rush, et al.
American Journal of Medical Genetics. Part A
|
May 23, 2013
Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects
Elisabeth A Keitges, Romela Pasion, Rachel D Burnside, et al.
Cancer Genetics
|
July 6, 2025
Two MLN-TK patients with ETV::ABL1 fusions mediated by different mechanisms with false negative FISH results resolved with RNA fusion analysis
Patrick Maher, Tim Jang, Ruben Ruiz Vega, et al.
American Journal of Medical Genetics. Part A
|
August 1, 2015
Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes
Kacie N Riley, Lisa M Catalano, John A Bernat, et al.
Critical Care Explorations
|
September 9, 2025
Monocyte Anisocytosis Can Discriminate Between Sepsis and Sterile Inflammation, but not Mortality, in Critically Ill Surgical/Trauma Patients: A Secondary Prospective Analysis
Miguel Hernández-Ríos, Ruoxuan Wu, Valerie A Polcz, et al.
American Journal of Medical Genetics. Part A
|
March 16, 2013
Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype
Rachel D Burnside, John G Pappas, Stephanie Sacharow, et al.
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Showing results (11-20 of 21) with videos related to
Sort By:
Page
of 3
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 29, 2016
Section E6.1-6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow-acquired chromosomal abnormalities
Fady M Mikhail, Nyla A Heerema, Kathleen W Rao, et al.
American Journal of Medical Genetics. Part A
|
August 9, 2018
Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN
Rachel D Burnside, Sharon Molinari, Christina Botti, et al.
American Journal of Medical Genetics. Part A
|
June 18, 2009
Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication
Rachel D Burnside, Edward J Lose, Maria G Domínguez, et al.
American Journal of Medical Genetics. Part A
|
May 20, 2011
UPD detection using homozygosity profiling with a SNP genotyping microarray
Peter Papenhausen, Stuart Schwartz, Hiba Risheg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 15, 2013
The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system
Fady M Mikhail, Rachel D Burnside, Brooke Rush, et al.
American Journal of Medical Genetics. Part A
|
May 23, 2013
Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects
Elisabeth A Keitges, Romela Pasion, Rachel D Burnside, et al.
Cancer Genetics
|
July 6, 2025
Two MLN-TK patients with ETV::ABL1 fusions mediated by different mechanisms with false negative FISH results resolved with RNA fusion analysis
Patrick Maher, Tim Jang, Ruben Ruiz Vega, et al.
American Journal of Medical Genetics. Part A
|
August 1, 2015
Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes
Kacie N Riley, Lisa M Catalano, John A Bernat, et al.
Critical Care Explorations
|
September 9, 2025
Monocyte Anisocytosis Can Discriminate Between Sepsis and Sterile Inflammation, but not Mortality, in Critically Ill Surgical/Trauma Patients: A Secondary Prospective Analysis
Miguel Hernández-Ríos, Ruoxuan Wu, Valerie A Polcz, et al.
American Journal of Medical Genetics. Part A
|
March 16, 2013
Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype
Rachel D Burnside, John G Pappas, Stephanie Sacharow, et al.
Page
of 3