Search research articles
Contact Us
Filters
Showing results (111-120 of 133) with videos related to
Page
of 14
Sort By:
Genes, Chromosomes & Cancer
|
November 7, 2015
An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study
Rina Kansal, Xinmin Li, Joseph Shen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 17, 2004
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
Michael S Watson, Garry R Cutting, Robert J Desnick, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 22, 2017
Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?
Sureni V Mullegama, Steven D Klein, Dzung C Nguyen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 22, 2013
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Robert C Green, Jonathan S Berg, Wayne W Grody, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 12, 2017
CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Robert C Green, Jonathan S Berg, Wayne W Grody, et al.
Cardiology and Cardiovascular Medicine
|
March 30, 2026
Novel Missense Variants in <i>TRIM37</i> Associated with Mulibrey Nanism and Complex Congenital Heart Disease
Gloria K E Zodanu, Angela C Zeigler, Jordan Mudery, et al.
The Journal of Molecular Diagnostics : JMD
|
October 13, 2018
Electric Field-Induced Release and Measurement Liquid Biopsy for Noninvasive Early Lung Cancer Assessment
Fang Wei, Charles M Strom, Jordan Cheng, et al.
International Journal of Molecular Sciences
|
May 25, 2024
High-Throughput Genomics Identify Novel <i>FBN1/2</i> Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects
Gloria K E Zodanu, John H Hwang, Zubin Mehta, et al.
American Journal of Human Genetics
|
March 3, 2015
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay
Valerie A Arboleda, Hane Lee, Naghmeh Dorrani, et al.
Academic Pathology
|
August 18, 2017
The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care
Karen L Kaul, Linda M Sabatini, Gregory J Tsongalis, et al.
Page
of 14
Search research articles
Search
Showing results (111-120 of 133) with videos related to
Sort By:
Page
of 14
Genes, Chromosomes & Cancer
|
November 7, 2015
An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study
Rina Kansal, Xinmin Li, Joseph Shen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 17, 2004
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
Michael S Watson, Garry R Cutting, Robert J Desnick, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 22, 2017
Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?
Sureni V Mullegama, Steven D Klein, Dzung C Nguyen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 22, 2013
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Robert C Green, Jonathan S Berg, Wayne W Grody, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 12, 2017
CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Robert C Green, Jonathan S Berg, Wayne W Grody, et al.
Cardiology and Cardiovascular Medicine
|
March 30, 2026
Novel Missense Variants in <i>TRIM37</i> Associated with Mulibrey Nanism and Complex Congenital Heart Disease
Gloria K E Zodanu, Angela C Zeigler, Jordan Mudery, et al.
The Journal of Molecular Diagnostics : JMD
|
October 13, 2018
Electric Field-Induced Release and Measurement Liquid Biopsy for Noninvasive Early Lung Cancer Assessment
Fang Wei, Charles M Strom, Jordan Cheng, et al.
International Journal of Molecular Sciences
|
May 25, 2024
High-Throughput Genomics Identify Novel <i>FBN1/2</i> Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects
Gloria K E Zodanu, John H Hwang, Zubin Mehta, et al.
American Journal of Human Genetics
|
March 3, 2015
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay
Valerie A Arboleda, Hane Lee, Naghmeh Dorrani, et al.
Academic Pathology
|
August 18, 2017
The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care
Karen L Kaul, Linda M Sabatini, Gregory J Tsongalis, et al.
Page
of 14