Associated Papers
Interesting Case of Familial Partial Lipodystrophy Syndrome (Type 6) with LIPE Gene Defect: A Case Report.
Mohan V et al.
The Journal of the Association of Physicians of India, 2025
Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.
Cannizzaro IR et al.
International Journal of Molecular Sciences, 2024
39409151 (PubMed )
Supplement: ijms-25-10822-s001.zip › Supplementary_Table_S1.xlsx › Lung_metastasis_AMP_ACMG
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.
Mendes C et al.
Molecular Genetics and Metabolism Reports, 2024
Monogenic basis of young-onset cryptogenic stroke: a multicenter study.
Yuan WZ et al.
Annals of Translational Medicine, 2022
35928749 (PubMed )
Supplement: atm-10-09-512-supplementary.pdf
LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells.
Sollier C et al.
European Journal of Endocrinology, 2021
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
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