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European Journal of Human Genetics : EJHG
|
January 22, 2015
Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease
Eva C Schulte, Akio Fukumori, Brit Mollenhauer, et al.
Human Molecular Genetics
|
December 15, 2010
Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels
Konrad Oexle, Janina S Ried, Andrew A Hicks, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 30, 2006
Family-based association study of the restless legs syndrome loci 2 and 3 in a European population
David Kemlink, Olli Polo, Pasquale Montagna, et al.
Atherosclerosis
|
August 8, 2009
Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery disease
Patrick Linsel-Nitschke, Jörg Heeren, Zouhair Aherrahrou, et al.
American Journal of Human Genetics
|
February 1, 2020
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Matias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, et al.
Frontiers in Medicine
|
November 7, 2022
Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age
Roman Günthner, Lea Knipping, Stefanie Jeruschke, et al.
Brain : a Journal of Neurology
|
September 30, 2021
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset
Nazanin Mirza-Schreiber, Michael Zech, Rory Wilson, et al.
Diabetes
|
September 14, 2016
Metformin Effect on Nontargeted Metabolite Profiles in Patients With Type 2 Diabetes and in Multiple Murine Tissues
Jonathan Adam, Stefan Brandmaier, Jörn Leonhardt, et al.
Molecular Genetics and Metabolism
|
January 28, 2014
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening
Tobias B Haack, Matteo Gorza, Katharina Danhauser, et al.
Human Heredity
|
September 28, 2006
SNP-based analysis of genetic substructure in the German population
Michael Steffens, Claudia Lamina, Thomas Illig, et al.
Page
of 51
Search research articles
Search
Showing results (241-250 of 508) with videos related to
Sort By:
Page
of 51
European Journal of Human Genetics : EJHG
|
January 22, 2015
Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease
Eva C Schulte, Akio Fukumori, Brit Mollenhauer, et al.
Human Molecular Genetics
|
December 15, 2010
Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels
Konrad Oexle, Janina S Ried, Andrew A Hicks, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 30, 2006
Family-based association study of the restless legs syndrome loci 2 and 3 in a European population
David Kemlink, Olli Polo, Pasquale Montagna, et al.
Atherosclerosis
|
August 8, 2009
Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery disease
Patrick Linsel-Nitschke, Jörg Heeren, Zouhair Aherrahrou, et al.
American Journal of Human Genetics
|
February 1, 2020
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Matias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, et al.
Frontiers in Medicine
|
November 7, 2022
Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age
Roman Günthner, Lea Knipping, Stefanie Jeruschke, et al.
Brain : a Journal of Neurology
|
September 30, 2021
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset
Nazanin Mirza-Schreiber, Michael Zech, Rory Wilson, et al.
Diabetes
|
September 14, 2016
Metformin Effect on Nontargeted Metabolite Profiles in Patients With Type 2 Diabetes and in Multiple Murine Tissues
Jonathan Adam, Stefan Brandmaier, Jörn Leonhardt, et al.
Molecular Genetics and Metabolism
|
January 28, 2014
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening
Tobias B Haack, Matteo Gorza, Katharina Danhauser, et al.
Human Heredity
|
September 28, 2006
SNP-based analysis of genetic substructure in the German population
Michael Steffens, Claudia Lamina, Thomas Illig, et al.
Page
of 51