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European Journal of Human Genetics : EJHG
|
May 12, 2011
Genetic variation in the Sorbs of eastern Germany in the context of broader European genetic diversity
Krishna R Veeramah, Anke Tönjes, Peter Kovacs, et al.
Genes & Development
|
February 4, 2012
Dietary obesity-associated Hif1α activation in adipocytes restricts fatty acid oxidation and energy expenditure via suppression of the Sirt2-NAD+ system
Jaya Krishnan, Carsten Danzer, Tatiana Simka, et al.
Orphanet Journal of Rare Diseases
|
August 28, 2020
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant
Dana Safka Brozkova, Lukas Varga, Anna Uhrova Meszarosova, et al.
Ear and Hearing
|
February 10, 2026
Screening for Maternally Inherited Diabetes and Deafness in Large Cohorts of Hearing Impaired and Diabetic Patients
Lukas Varga, Silvia Borecka, Martina Skopkova, et al.
European Journal of Medical Genetics
|
August 16, 2016
Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa
Martina Skopkova, Miriam Ciljakova, Zuzana Havlicekova, et al.
Hormone Research in Paediatrics
|
March 30, 2026
T1D GRS: a tool for identifying children and adolescents with monogenic diabetes
Zuzana Dobiasova, Martina Skopkova, Miloslav Karhanek, et al.
Mediators of Inflammation
|
January 4, 2011
Metabolic phenotype and adipose tissue inflammation in patients with chronic obstructive pulmonary disease
Peter Skyba, Jozef Ukropec, Pavol Pobeha, et al.
Orphanet Journal of Rare Diseases
|
April 24, 2023
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
Martina Skopkova, Hana Stufkova, Vibhuti Rambani, et al.
EMBO Molecular Medicine
|
August 20, 2011
Adipogenesis and insulin sensitivity in obesity are regulated by retinoid-related orphan receptor gamma
Bettina Meissburger, Jozef Ukropec, Eva Roeder, et al.
Molecular Metabolism
|
September 20, 2013
Transcriptional regulation of adipocyte formation by the liver receptor homologue 1 (Lrh1)-Small hetero-dimerization partner (Shp) network
Nadja Mrosek, Bettina Meissburger, Chikage Mataki, et al.
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of 5
Search research articles
Search
Showing results (21-30 of 46) with videos related to
Sort By:
Page
of 5
European Journal of Human Genetics : EJHG
|
May 12, 2011
Genetic variation in the Sorbs of eastern Germany in the context of broader European genetic diversity
Krishna R Veeramah, Anke Tönjes, Peter Kovacs, et al.
Genes & Development
|
February 4, 2012
Dietary obesity-associated Hif1α activation in adipocytes restricts fatty acid oxidation and energy expenditure via suppression of the Sirt2-NAD+ system
Jaya Krishnan, Carsten Danzer, Tatiana Simka, et al.
Orphanet Journal of Rare Diseases
|
August 28, 2020
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant
Dana Safka Brozkova, Lukas Varga, Anna Uhrova Meszarosova, et al.
Ear and Hearing
|
February 10, 2026
Screening for Maternally Inherited Diabetes and Deafness in Large Cohorts of Hearing Impaired and Diabetic Patients
Lukas Varga, Silvia Borecka, Martina Skopkova, et al.
European Journal of Medical Genetics
|
August 16, 2016
Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa
Martina Skopkova, Miriam Ciljakova, Zuzana Havlicekova, et al.
Hormone Research in Paediatrics
|
March 30, 2026
T1D GRS: a tool for identifying children and adolescents with monogenic diabetes
Zuzana Dobiasova, Martina Skopkova, Miloslav Karhanek, et al.
Mediators of Inflammation
|
January 4, 2011
Metabolic phenotype and adipose tissue inflammation in patients with chronic obstructive pulmonary disease
Peter Skyba, Jozef Ukropec, Pavol Pobeha, et al.
Orphanet Journal of Rare Diseases
|
April 24, 2023
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
Martina Skopkova, Hana Stufkova, Vibhuti Rambani, et al.
EMBO Molecular Medicine
|
August 20, 2011
Adipogenesis and insulin sensitivity in obesity are regulated by retinoid-related orphan receptor gamma
Bettina Meissburger, Jozef Ukropec, Eva Roeder, et al.
Molecular Metabolism
|
September 20, 2013
Transcriptional regulation of adipocyte formation by the liver receptor homologue 1 (Lrh1)-Small hetero-dimerization partner (Shp) network
Nadja Mrosek, Bettina Meissburger, Chikage Mataki, et al.
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of 5