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Kheriji N et al.
Frontiers in Genetics, 2023
Precision Diagnosis of Maturity-Onset Diabetes of the Young with Next-Generation Sequencing: Findings from the MODY-IST Study in Adult Patients.
Aydogan HY et al.
Omics : a Journal of Integrative Biology, 2022
Monogenic Childhood Diabetes: Dissecting Clinical Heterogeneity by Next-Generation Sequencing in Maturity-Onset Diabetes of the Young.
Demirci DK et al.
Omics : a Journal of Integrative Biology, 2021
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
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Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
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