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American Journal of Medical Genetics. Part A
|
December 25, 2015
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies
Ramakrishnan Rajagopalan, Christopher M Grochowski, Melissa A Gilbert, et al.
The Annals of Thoracic Surgery
|
November 25, 2010
J. Maxwell Chamberlain Memorial Paper for congenital heart surgery. Deep hypothermic circulatory arrest does not impair neurodevelopmental outcome in school-age children after infant cardiac surgery
Stephanie Fuller, Ramakrishnan Rajagopalan, Gail P Jarvik, et al.
Scientific Reports
|
January 20, 2018
NIPBL<sup>+/-</sup> haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states
Jason A Mills, Pamela S Herrera, Maninder Kaur, et al.
Anesthesiology
|
September 10, 2013
Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families
Jerry H Kim, Gail P Jarvik, Brian L Browning, et al.
Journal of Lipid Research
|
December 8, 2009
Genetic and nongenetic sources of variation in phospholipid transfer protein activity
Gail P Jarvik, Ramakrishnan Rajagopalan, Elisabeth A Rosenthal, et al.
Gastroenterology
|
June 8, 2020
Impaired Redox and Protein Homeostasis as Risk Factors and Therapeutic Targets in Toxin-Induced Biliary Atresia
Xiao Zhao, Kristin Lorent, Diana Escobar-Zarate, et al.
Ejhaem
|
August 27, 2025
An Unusual Cause of Hexokinase 1 Deficiency-Case Report
Gonench Kilich, Kelly Maurer, Tanaya Jadhav, et al.
Journal of Lipid Research
|
July 16, 2011
Linkage and association of phospholipid transfer protein activity to LASS4
Elisabeth A Rosenthal, James Ronald, Joseph Rothstein, et al.
NPJ Genomic Medicine
|
January 11, 2024
Kagami Ogata syndrome: a small deletion refines critical region for imprinting
Gonench Kilich, Kelly Hassey, Edward M Behrens, et al.
American Journal of Hematology
|
September 30, 2017
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders
Edward J Romasko, Batsal Devkota, Sawona Biswas, et al.
Page
of 6
Search research articles
Search
Showing results (31-40 of 60) with videos related to
Sort By:
Page
of 6
American Journal of Medical Genetics. Part A
|
December 25, 2015
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies
Ramakrishnan Rajagopalan, Christopher M Grochowski, Melissa A Gilbert, et al.
The Annals of Thoracic Surgery
|
November 25, 2010
J. Maxwell Chamberlain Memorial Paper for congenital heart surgery. Deep hypothermic circulatory arrest does not impair neurodevelopmental outcome in school-age children after infant cardiac surgery
Stephanie Fuller, Ramakrishnan Rajagopalan, Gail P Jarvik, et al.
Scientific Reports
|
January 20, 2018
NIPBL<sup>+/-</sup> haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states
Jason A Mills, Pamela S Herrera, Maninder Kaur, et al.
Anesthesiology
|
September 10, 2013
Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families
Jerry H Kim, Gail P Jarvik, Brian L Browning, et al.
Journal of Lipid Research
|
December 8, 2009
Genetic and nongenetic sources of variation in phospholipid transfer protein activity
Gail P Jarvik, Ramakrishnan Rajagopalan, Elisabeth A Rosenthal, et al.
Gastroenterology
|
June 8, 2020
Impaired Redox and Protein Homeostasis as Risk Factors and Therapeutic Targets in Toxin-Induced Biliary Atresia
Xiao Zhao, Kristin Lorent, Diana Escobar-Zarate, et al.
Ejhaem
|
August 27, 2025
An Unusual Cause of Hexokinase 1 Deficiency-Case Report
Gonench Kilich, Kelly Maurer, Tanaya Jadhav, et al.
Journal of Lipid Research
|
July 16, 2011
Linkage and association of phospholipid transfer protein activity to LASS4
Elisabeth A Rosenthal, James Ronald, Joseph Rothstein, et al.
NPJ Genomic Medicine
|
January 11, 2024
Kagami Ogata syndrome: a small deletion refines critical region for imprinting
Gonench Kilich, Kelly Hassey, Edward M Behrens, et al.
American Journal of Hematology
|
September 30, 2017
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders
Edward J Romasko, Batsal Devkota, Sawona Biswas, et al.
Page
of 6