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American Journal of Medical Genetics. Part A
|
April 7, 2026
De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline
Katherine Helle, Jesse D Bengtsson, Mira Gandhi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 7, 2017
The collaborative African genomics network training program: a trainee perspective on training the next generation of African scientists
Busisiwe C Mlotshwa, Savannah Mwesigwa, Gerald Mboowa, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
March 12, 2014
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia
Claudia Gonzaga-Jauregui, Sabina Mir, Samantha Penney, et al.
BMC Medical Genetics
|
August 14, 2012
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
Neil A Hanchard, Claudia M B Carvalho, Patricia Bader, et al.
Clinical Epigenetics
|
April 10, 2019
Novel parent-of-origin-specific differentially methylated loci on chromosome 16
Katharina V Schulze, Przemyslaw Szafranski, Harry Lesmana, et al.
Science Advances
|
September 24, 2021
Sex-specific phenotypic effects and evolutionary history of an ancient polymorphic deletion of the human growth hormone receptor
Marie Saitou, Skyler Resendez, Apoorva J Pradhan, et al.
International Journal of Molecular Sciences
|
September 14, 2024
Identification of a Clade-Specific HLA-C*03:02 CTL Epitope GY9 Derived from the HIV-1 p17 Matrix Protein
Samuel Kyobe, Savannah Mwesigwa, Gyaviira Nkurunungi, et al.
The Journal of Clinical Investigation
|
October 1, 2020
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
David R Murdock, Hongzheng Dai, Lindsay C Burrage, et al.
Nature Communications
|
December 21, 2019
Edematous severe acute malnutrition is characterized by hypomethylation of DNA
Katharina V Schulze, Shanker Swaminathan, Sharon Howell, et al.
American Journal of Human Genetics
|
September 2, 2022
Addressing underrepresentation in genomics research through community engagement
Amy A Lemke, Edward D Esplin, Aaron J Goldenberg, et al.
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of 7
Search research articles
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Showing results (31-40 of 67) with videos related to
Sort By:
Page
of 7
American Journal of Medical Genetics. Part A
|
April 7, 2026
De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline
Katherine Helle, Jesse D Bengtsson, Mira Gandhi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 7, 2017
The collaborative African genomics network training program: a trainee perspective on training the next generation of African scientists
Busisiwe C Mlotshwa, Savannah Mwesigwa, Gerald Mboowa, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
March 12, 2014
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia
Claudia Gonzaga-Jauregui, Sabina Mir, Samantha Penney, et al.
BMC Medical Genetics
|
August 14, 2012
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
Neil A Hanchard, Claudia M B Carvalho, Patricia Bader, et al.
Clinical Epigenetics
|
April 10, 2019
Novel parent-of-origin-specific differentially methylated loci on chromosome 16
Katharina V Schulze, Przemyslaw Szafranski, Harry Lesmana, et al.
Science Advances
|
September 24, 2021
Sex-specific phenotypic effects and evolutionary history of an ancient polymorphic deletion of the human growth hormone receptor
Marie Saitou, Skyler Resendez, Apoorva J Pradhan, et al.
International Journal of Molecular Sciences
|
September 14, 2024
Identification of a Clade-Specific HLA-C*03:02 CTL Epitope GY9 Derived from the HIV-1 p17 Matrix Protein
Samuel Kyobe, Savannah Mwesigwa, Gyaviira Nkurunungi, et al.
The Journal of Clinical Investigation
|
October 1, 2020
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
David R Murdock, Hongzheng Dai, Lindsay C Burrage, et al.
Nature Communications
|
December 21, 2019
Edematous severe acute malnutrition is characterized by hypomethylation of DNA
Katharina V Schulze, Shanker Swaminathan, Sharon Howell, et al.
American Journal of Human Genetics
|
September 2, 2022
Addressing underrepresentation in genomics research through community engagement
Amy A Lemke, Edward D Esplin, Aaron J Goldenberg, et al.
Page
of 7