Blättern Molekulare Medizin nach "Wollnik, Bernd Prof. Dr." Betreuer
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Exploring the role of LZTR1 in an autosomal recessive form of Noonan Syndrome by genome-edited induced pluripotent stem cells
(2021-10-22)Noonan syndrome is a multisystemic developmental disorder and is characterized by variable symptoms such as facial dysmorphisms, short stature, webbing of the neck and mild intellectual disability. The most severe clinical ... -
Impaired chromosome integrity caused by mutations in members of the BTRR complex
(2023-10-17)Bloom syndrome (BS) is an autosomal recessive rare disorder clinically characterized by primary microcephaly, growth deficiency, short stature, photosensitivity, immunodeficiency, and cancer predisposition. BS is caused ... -
Molecular pathogenesis underlying syndromic forms of primary microcephaly
(2020-01-08)Microcephaly describes a reduced brain size in patients that manifests in an evidently reduced head circumference compared to healthy individuals of same age, sex and ethnicity. Even though microcephaly is still considered ... -
The role of NARF and other novel progeria-associated genes/proteins in ageing processes.
(2021-01-29)The world’s population is ageing rapidly. Currently, people at the age of 60 and over represent 12.3% of the global population. By 2050, this number will rise to almost 22%. Our knowledge of ageing underlying processes is ...