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Bioinformatics (Oxford, England)
|
September 30, 2017
HaploForge: a comprehensive pedigree drawing and haplotype visualization web application
Mehmet Tekman, Alan Medlar, Monika Mozere, et al.
BMC Bioinformatics
|
February 10, 2018
OVAS: an open-source variant analysis suite with inheritance modelling
Monika Mozere, Mehmet Tekman, Jameela Kari, et al.
Molecular Genetics & Genomic Medicine
|
September 22, 2016
Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome
Ola Abdelhadi, Daniela Iancu, Mehmet Tekman, et al.
American Journal of Medical Genetics. Part A
|
April 5, 2014
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation
Suzanne Drury, Christopher Boustred, Mehmet Tekman, et al.
Molecular Genetics & Genomic Medicine
|
April 3, 2021
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)
Sumaya Islam, Mehmet Tekman, Sarah E Flanagan, et al.
Developmental Cell
|
December 11, 2024
EOMES establishes mesoderm and endoderm differentiation potential through SWI/SNF-mediated global enhancer remodeling
Chiara M Schröder, Lea Zissel, Sophie-Luise Mersiowsky, et al.
Developmental Cell
|
August 26, 2023
Eomes restricts Brachyury functions at the onset of mouse gastrulation
Katrin M Schüle, Jelena Weckerle, Simone Probst, et al.
Gigascience
|
January 8, 2025
Galaxy as a gateway to bioinformatics: Multi-Interface Galaxy Hands-on Training Suite (MIGHTS) for scRNA-seq
Camila L Goclowski, Julia Jakiela, Tyler Collins, et al.
Orphanet Journal of Rare Diseases
|
February 9, 2017
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes
Polona Le Quesne Stabej, Chela James, Louise Ocaka, et al.
European Journal of Human Genetics : EJHG
|
June 11, 2015
STAG3 truncating variant as the cause of primary ovarian insufficiency
Polona Le Quesne Stabej, Hywel J Williams, Chela James, et al.
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Search research articles
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Showing results (1-10 of 22) with videos related to
Sort By:
Page
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Bioinformatics (Oxford, England)
|
September 30, 2017
HaploForge: a comprehensive pedigree drawing and haplotype visualization web application
Mehmet Tekman, Alan Medlar, Monika Mozere, et al.
BMC Bioinformatics
|
February 10, 2018
OVAS: an open-source variant analysis suite with inheritance modelling
Monika Mozere, Mehmet Tekman, Jameela Kari, et al.
Molecular Genetics & Genomic Medicine
|
September 22, 2016
Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome
Ola Abdelhadi, Daniela Iancu, Mehmet Tekman, et al.
American Journal of Medical Genetics. Part A
|
April 5, 2014
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation
Suzanne Drury, Christopher Boustred, Mehmet Tekman, et al.
Molecular Genetics & Genomic Medicine
|
April 3, 2021
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)
Sumaya Islam, Mehmet Tekman, Sarah E Flanagan, et al.
Developmental Cell
|
December 11, 2024
EOMES establishes mesoderm and endoderm differentiation potential through SWI/SNF-mediated global enhancer remodeling
Chiara M Schröder, Lea Zissel, Sophie-Luise Mersiowsky, et al.
Developmental Cell
|
August 26, 2023
Eomes restricts Brachyury functions at the onset of mouse gastrulation
Katrin M Schüle, Jelena Weckerle, Simone Probst, et al.
Gigascience
|
January 8, 2025
Galaxy as a gateway to bioinformatics: Multi-Interface Galaxy Hands-on Training Suite (MIGHTS) for scRNA-seq
Camila L Goclowski, Julia Jakiela, Tyler Collins, et al.
Orphanet Journal of Rare Diseases
|
February 9, 2017
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes
Polona Le Quesne Stabej, Chela James, Louise Ocaka, et al.
European Journal of Human Genetics : EJHG
|
June 11, 2015
STAG3 truncating variant as the cause of primary ovarian insufficiency
Polona Le Quesne Stabej, Hywel J Williams, Chela James, et al.
Page
of 3