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Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
2020 - Forschungsinformationssystem des UKE
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca²⁺-Activated K⁺ Channel SK3 Cause Zimmermann-Laband Syndrome
2019 - Forschungsinformationssystem des UKE