Rezultati iskanja Basel-Vanagaite, Lina UPUK :: COBISS+

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zadetkov: 116

111.	De novoSCN1Amutations are a major cause of severe myoclonic epilepsy of infancy Human mutation Journal Article Recenzirano Odprti dostop	Celotno besedilo
112.	Consensus interpretation of the Met34Thr and Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel Paper Odprti dostop	Celotno besedilo PDF
113.	New Syndrome of Congenital Circumferential Skin Folds Associated with Multiple Congenital Anomalies Basel-Vanagaite, Lina; Sprecher, Eli; Gat, Andrea ... Pediatric Dermatology, 01/2012, Letnik: 29, Številka: 1 Report	Celotno besedilo PDF
114.	Autosomal dominant isolated question mark ear Shkalim, Vered; Eliaz, Noam; Linder, Nehama ... American Journal of Medical Genetics Part A, 09/2008, Letnik: 146A, Številka: 17 Report	Celotno besedilo
115.	An Israeli Arab patient with a de novoTNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome Aganna, Ebun; Zeharia, Avraham; Hitman, Graham A. ... Arthritis and rheumatism, 01/2002, Letnik: 46, Številka: 1 Journal Article	Celotno besedilo PDF
116.	New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death Basel-Vanagaite, Lina; Marcus, Nufar; Klinger, Gil ... American Journal of Medical Genetics Part A, 06/2003, Letnik: 119A, Številka: 2 Report	Celotno besedilo

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zadetkov: 116