Browsing WoS İndeksli Yayınlar Koleksiyonu by Publisher "Medecine Et Hygiene"

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Partial deletion of the long arm of chromosome 13 (q32q33.2) associated with mental retardation, choanal atresia and fish mouth

Balcı, Sevim; Konuk, Berrin Yüksel; Atik, Fatih; Oğuz, Kader; Ergün, Mehmet Ali; Baltacı, Volkan; Liehr, Thomas (Medecine Et Hygiene, 2010)

Partial deletion of the long arm of chromosome 13 (q32q33.2) associated with mental retardation, choanal atresia and fish mouth: 13q deletion syndrome is characterized by mental and motor retardation, craniofacial dysmorphic ...
A PRENATALLY SONOGRAPHICALLY DIAGNOSED CONOTRUNCAL ANOMALY WITH MOSAIC TYPE TRISOMY 21 AND 22q11.2 MICRODELETION/DIGEORGE SYNDROME

Balci, S.; Altugan, F. S.; Alehan, D.; Aypar, E.; Baltaci, V. (Medecine Et Hygiene, 2009)

A prenatally sonographically diagnosed conotruncal anomaly with mosaic ope trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome: We report a prenatally sonographically diagnosed conotruncal and urogenital anomaly. ...