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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

Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15

2020 . Beygo, Jasmin | Grosser, Christian | Kaya, Sabine | Mertel, Claudia | Buiting, Karin | Horsthemke, Bernhard

BRCA1 mislocalization leads to aberrant DNA damage response in heterozygous ABRAXAS1 mutation carrier cells

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