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Human Molecular Genetics
|
January 11, 2007
Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia
Daryl A Scott, Merel Klaassens, Ashley M Holder, et al.
American Journal of Medical Genetics. Part A
|
January 14, 2021
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans
Yoel Gofin, Laura Palmer Mackay, Keren Machol, et al.
American Journal of Medical Genetics. Part A
|
September 21, 2020
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome
K Taylor Wild, Tia Gordon, Elizabeth J Bhoj, et al.
Disease Models & Mechanisms
|
August 1, 2018
RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects
Bum Jun Kim, Hitisha P Zaveri, Valerie K Jordan, et al.
Nature Communications
|
August 2, 2023
Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes
Tara N Yankee, Sungryong Oh, Emma Wentworth Winchester, et al.
Journal of Medical Genetics
|
October 6, 2010
Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia
Margaret J Wat, Victoria B Enciso, Wojciech Wiszniewski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 10, 2026
MAJIQ-CLIN: A novel tool to help identify Mendelian disease-causing variants from RNA-Seq data
Joseph K Aicher, Dina Issakova, Barry Slaff, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 22, 2014
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss
Raye L Alford, Kathleen S Arnos, Michelle Fox, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 20, 2025
MAJIQ-CLIN: A novel tool for the identification of Mendelian disease-causing variants from RNA-Seq data
Joseph K Aicher, Dina Issakova, Barry Slaff, et al.
Journal of Pediatric Genetics
|
April 3, 2024
<i>FOXP1</i> Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia
Katherine E Pendleton, Andres Hernandez-Garcia, Jennifer M Lyu, et al.
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Search research articles
Search
Showing results (31-40 of 128) with videos related to
Sort By:
Page
of 13
Human Molecular Genetics
|
January 11, 2007
Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia
Daryl A Scott, Merel Klaassens, Ashley M Holder, et al.
American Journal of Medical Genetics. Part A
|
January 14, 2021
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans
Yoel Gofin, Laura Palmer Mackay, Keren Machol, et al.
American Journal of Medical Genetics. Part A
|
September 21, 2020
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome
K Taylor Wild, Tia Gordon, Elizabeth J Bhoj, et al.
Disease Models & Mechanisms
|
August 1, 2018
RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects
Bum Jun Kim, Hitisha P Zaveri, Valerie K Jordan, et al.
Nature Communications
|
August 2, 2023
Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes
Tara N Yankee, Sungryong Oh, Emma Wentworth Winchester, et al.
Journal of Medical Genetics
|
October 6, 2010
Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia
Margaret J Wat, Victoria B Enciso, Wojciech Wiszniewski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 10, 2026
MAJIQ-CLIN: A novel tool to help identify Mendelian disease-causing variants from RNA-Seq data
Joseph K Aicher, Dina Issakova, Barry Slaff, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 22, 2014
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss
Raye L Alford, Kathleen S Arnos, Michelle Fox, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 20, 2025
MAJIQ-CLIN: A novel tool for the identification of Mendelian disease-causing variants from RNA-Seq data
Joseph K Aicher, Dina Issakova, Barry Slaff, et al.
Journal of Pediatric Genetics
|
April 3, 2024
<i>FOXP1</i> Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia
Katherine E Pendleton, Andres Hernandez-Garcia, Jennifer M Lyu, et al.
Page
of 13