Clinical genetics

Authors Averdunk L, Al-Thihli K, Surowy H, Lüdecke HJ, Drechsler M, Yigit G, Smorag L, Hallak BA, Li Y, Altmüller J, Guthoff T, Wallot M, Nürnberg P, Wollnik B, Abou Jamra R, Al-Maawali A, Wieczorek D Journal Clinical Genetics Citation Clin Genet. 2022 Dec 28. Abstract Protein translation is an

Authors Schmidt J, Bremmer F, Brockmann K, Kaulfuß S, Wollnik B Journal Clinical Genetics Citation Clin Genet. 2022 Jun 7. Abstract Proteus syndrome is a very rare disorder with progressive, asymmetrical, and disproportionate overgrowth of body parts with a highly variable phenotype. It is associated with mosaicism for the recurrent

Authors Gönenc II, Elcioglu NH, Martinez Grijalva C, Aras S, Großmann N, Praulich I, Altmüller J, Kaulfuß S, Li Y, Nürnberg P, Burfeind P, Yigit G, Wollnik B Journal Clinical Genetics Citation Clin Genet. 2022 Feb 26. Abstract Bloom syndrome (BS) is an autosomal recessive disorder with characteristic clinical features of

Authors Schnabel F, Kornak U, Wollnik B Journal Clinical Genetics Citation Clin Genet. 2020 Aug 28. Abstract Progeroid disorders make up a heterogeneous group of very rare hereditary diseases characterized by clinical signs that often mimic physiological aging in a premature manner. Apart from Hutchinson-Gilford progeria syndrome, one of the