Associated Papers
Evaluation of Pathogenic Variants Associated With Monogenic Disorders of Dyslipidemia in Patients With Well Characterised MASLD.
Schwantes-An TH et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2026
41514510 (PubMed )
Supplement: LIV-46-0-s001.xlsx › Table_S1
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
40542290 (PubMed )
Supplement: 10072_2025_8286_MOESM1_ESM.xlsx › T_M_HASTALAR
The first Japanese case with familial combined hypolipidemia without any complications caused by loss-of function variants in ANGPTL3: Case report.
Tada H et al.
Heliyon, 2024
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
Recent developments in the genetics of LDL deficiency.
Hooper AJ et al.
Current Opinion in Lipidology, 2013
Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia.
Noto D et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2012
Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3.
Pisciotta L et al.
Circulation. Cardiovascular Genetics, 2012
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