Fachrepositorium Lebenswissenschaften

9 Treffer

Suche

Publisso-Menue

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

Sudden infant death syndrome: deletions of glutathione-S-transferase genes M1 and T1 and tobacco smoke exposure

2021 . Mawick, Anthea | Pfeiffer, Heidi | Vennemann, Marielle

Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains

2021 . Eggermann, Thomas | Begemann, Matthias | Pfeiffer, Lutz

A rare cause of sudden unexpected death syndrome (SUDS) in the first year of life: endomyocardial fibroelastosis (EFE) due to two compound heterozygous MYBPC3 mutations

2021 . Hartung, Benno | Tank, Anne | Dittmann, Sven | Ritz-Timme, Stefanie | Schulze-Bahr, Eric

A multifactorial model of pathology for age of onset heterogeneity in familial Alzheimer’s disease

Retinal axonal degeneration in Niemann–Pick type C disease

2020 . Havla, Joachim | Moser, Marlene | Sztatecsny, Clara | Lotz-Havla, Amelie S. | Maier, Esther M. | Hizli, Baccara | Schinner, Regina | Kümpfel, Tania | Strupp, Michael | Bremova-Ertl, Tatiana | Schneider, Susanne A.

Homozygous Smpd1 deficiency aggravates brain ischemia/ reperfusion injury by mechanisms involving polymorphonuclear neutrophils, whereas heterozygous Smpd1 deficiency protects against mild focal cerebral ischemia

2020 . Hagemann, Nina | Mohamud Yusuf, Ayan | Martiny, Carlotta | Zhang, Xiaoni | Kleinschnitz, Christoph | Gunzer, Matthias | Kolesnick, Richard | Gulbins, Erich | Hermann, Dirk M.

Rare heterozygous GDF6 variants in patients with renal anomalies

Maternal and paternal carriage of the annexin A5 M2 haplotype: a possible risk factor for recurrent implantation failure (RIF)

2020 . Rogenhofer, Nina | Markoff, Arseni | Ennerst, Xenia | Bogdanova, Nadja | Thaler, Christian