Browsing Human- und Zahnmedizin by Referee "Pauli, Silke PD Dr."
Now showing items 1-3 of 3
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Haplotypanalyse bei Familien mit einem Kind mit CHARGE- Syndrom und Kandidatengenscreening CHD8 und FAM124B
(2018-07-19)The CHARGE (coloboma, heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies and deafness) syndrome is an autosomal dominant inherited malformation syndrome caused by ... -
Klinische und diagnostische Eigenschaften der sporadischen Creutzfeldt-Jakob-Krankheit bei Patienten mit positiver Familienanamnese für Demenz oder Morbus Parkinson
(2016-06-16)OBJECTIVE It was suggested that the cause of sporadic Creutzfeldt-Jakob disease (sCJD) is a spontaneous change in configuration of the prion protein. The acceptance of the influence of the misfolded protein chains which ... -
Klonale Evolution und zytogenetische Evolutionsmuster bei Myelodysplastischen Syndromen (MDS) und sekundärer akuter myeloischer Leukämie nach MDS
(2016-03-10)Myelodysplastic syndromes (MDS) are clonal stem cell disorders characterized by heterogeneous symptoms and disease progression based on a multistep pathogenesis. Genetic instability promotes the gradual or sudden accumulation ...