Ara
Toplam kayıt 13, listelenen: 11-13
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
(Nature Publishing Group, 2016)
Purpose:Noonan syndrome (NS) is an autosomal-dominant disorder characterized by craniofacial dysmorphism, growth retardation, cardiac abnormalities, and learning difficulties. It belongs to the RASopathies, which are caused ...
22.5 MB deletion of 13q31.1-q34 associated with HPE, DWM, and HSCR: A case report and redefining the smallest deleted regions
(Editions Medecine et Hygiene, 2016)
22.5 MB deletion ofliqil. l-qi4 associated with HPE, DWM, and HSCR: A case report and redefining the smallest deleted regions: Partial deletion of the long arm of the chromosome 13, 13q deletion syndrome is a rare chromosomal ...
İrritabl Barsak Sendromlu Hastalarda Patolojik Endişe ve Üst-bilişsel İnançların İncelenmesi
(Istanbul Universitesi, 2016)
ÖZET
Amaç: İrritabl Barsak Sendromu toplumun yaklaşık %20’sini etkileyen fonksiyonel bir gastrointestinal
hastalıktır. İrritabl Barsak Sendromu psikiyatrik belirtilerle yakından ilişkilidir. Bu çalışmada
İrritabl Barsak ...