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Medrxiv : the Preprint Server for Health Sciences
|
July 9, 2025
Pathway-Specific Polygenic Risk Scores for Blood Pressure Traits in a West African Cohort
Gregory Bormes, Vanessa Robbin, Tinashe Chikwore, et al.
Frontiers in Cardiovascular Medicine
|
March 30, 2026
Pathway-specific polygenic risk scores for blood pressure traits in a West African cohort
Gregory Bormes, Vanessa Robbin, Tinashe Chikowore, et al.
Molecular Genetics and Metabolism
|
April 12, 2011
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis
Neil A Hanchard, Oleg A Shchelochkov, Angshumoy Roy, et al.
British Journal of Haematology
|
January 6, 2009
Ethnic differences in F cell levels in Jamaica: a potential tool for identifying new genetic loci controlling fetal haemoglobin
Lisa E Creary, Colin A McKenzie, Stephan Menzel, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
July 28, 2018
First case of genetically confirmed CLN3 disease in Chinese with cDNA sequencing revealing pathogenicity of a novel splice site variant
Nike Kwai Cheung Lau, Chor Kwan Ching, Hencher Han Chih Lee, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 4, 2023
Genetic Variants in Carbohydrate Digestive Enzyme and Transport Genes Associated with Risk of Irritable Bowel Syndrome
Hyejeong Hong, Katharina V Schulze, Ian E Copeland, et al.
American Journal of Medical Genetics. Part A
|
July 11, 2019
Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures
Nishitha R Pillai, Noura S AlDhaheri, Rajarshi Ghosh, et al.
Clinical Genetics
|
August 21, 2012
Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness
Neil A Hanchard, David R Murdock, Pilar L Magoulas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 18, 2019
Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy
Katharina V Schulze, Amit Bhatt, Mahshid S Azamian, et al.
Blood Advances
|
December 23, 2018
A locus on chromosome 5 shows African ancestry-limited association with alloimmunization in sickle cell disease
Lesedi M Williams, Zhihua Qi, Ken Batai, et al.
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of 7
Search research articles
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Showing results (21-30 of 67) with videos related to
Sort By:
Page
of 7
Medrxiv : the Preprint Server for Health Sciences
|
July 9, 2025
Pathway-Specific Polygenic Risk Scores for Blood Pressure Traits in a West African Cohort
Gregory Bormes, Vanessa Robbin, Tinashe Chikwore, et al.
Frontiers in Cardiovascular Medicine
|
March 30, 2026
Pathway-specific polygenic risk scores for blood pressure traits in a West African cohort
Gregory Bormes, Vanessa Robbin, Tinashe Chikowore, et al.
Molecular Genetics and Metabolism
|
April 12, 2011
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis
Neil A Hanchard, Oleg A Shchelochkov, Angshumoy Roy, et al.
British Journal of Haematology
|
January 6, 2009
Ethnic differences in F cell levels in Jamaica: a potential tool for identifying new genetic loci controlling fetal haemoglobin
Lisa E Creary, Colin A McKenzie, Stephan Menzel, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
July 28, 2018
First case of genetically confirmed CLN3 disease in Chinese with cDNA sequencing revealing pathogenicity of a novel splice site variant
Nike Kwai Cheung Lau, Chor Kwan Ching, Hencher Han Chih Lee, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 4, 2023
Genetic Variants in Carbohydrate Digestive Enzyme and Transport Genes Associated with Risk of Irritable Bowel Syndrome
Hyejeong Hong, Katharina V Schulze, Ian E Copeland, et al.
American Journal of Medical Genetics. Part A
|
July 11, 2019
Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures
Nishitha R Pillai, Noura S AlDhaheri, Rajarshi Ghosh, et al.
Clinical Genetics
|
August 21, 2012
Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness
Neil A Hanchard, David R Murdock, Pilar L Magoulas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 18, 2019
Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy
Katharina V Schulze, Amit Bhatt, Mahshid S Azamian, et al.
Blood Advances
|
December 23, 2018
A locus on chromosome 5 shows African ancestry-limited association with alloimmunization in sickle cell disease
Lesedi M Williams, Zhihua Qi, Ken Batai, et al.
Page
of 7