Associated Papers
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter
CHDH, a key mitochondrial enzyme, plays a diagnostic role in metabolic disorders diseases and tumor progression.
Li Y et al.
Frontiers in Genetics, 2023
Antiretroviral treatment leading to secondary trimethylaminuria: Genetic associations and successful management with riboflavin.
Scimone C et al.
Journal of Clinical Pharmacy and Therapeutics, 2021
Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.
Greer C et al.
Human Reproduction (oxford, England), 2021
33417716 (PubMed )
Supplement: deaa347_supplementary_data.zip › Suppl_Table_SV_Neand_Shared_Extinct_Revised.pdf
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T1
The role of the folate pathway in pancreatic cancer risk.
Chittiboyina S et al.
Plos One, 2018
Genetic Variation in Choline-Metabolizing Enzymes Alters Choline Metabolism in Young Women Consuming Choline Intakes Meeting Current Recommendations.
Ganz AB et al.
International Journal of Molecular Sciences, 2017
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
Karageorgos I et al.
Human Genomics, 2015
26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyB
Single nucleotide polymorphisms in homocysteine metabolism pathway genes: association of CHDH A119C and MTHFR C677T with hyperhomocysteinemia.
Kumar J et al.
Circulation. Cardiovascular Genetics, 2009
Common genetic polymorphisms affect the human requirement for the nutrient choline.
da Costa KA et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2006
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