Rezultati iskanja Roepman, Ronald NUK :: COBISS+

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zadetkov: 135

131.	Exome sequencing identifiesDYNC2H1mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement Journal Article Odprti dostop	Celotno besedilo PDF
132.	Leber congenital amaurosis and other non-syndromic retinal ciliopathies Kenny, Thomas D.; Beales, Philip L.; Roepman, Ronald Ciliopathies, 09/2013 Book Chapter Leber congenital amaurosis is the most severe form of earlyonset inherited retinal degeneration and typically becomes evident in the first year of life, usually at around the age of 6 weeks, when ...	Celotno besedilo
133.	ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability bioRxiv (Cold Spring Harbor Laboratory) Paper Odprti dostop	Celotno besedilo PDF
134.	CiliaCarta: an integrated and validated compendium of ciliary genes bioRxiv (Cold Spring Harbor Laboratory) Journal Article Odprti dostop	Celotno besedilo PDF
135.	An expression profile for diagnosis of lymph node metastases from primary head and neck squamous cell carcinomas Holstege, Frank C P; Roepman, Paul; Wessels, Lodewyk F A ... Nature genetics, 02/2005, Letnik: 37, Številka: 2 Journal Article Recenzirano Metastasis is the process by which cancers spread to distinct sites in the body. It is the principal cause of death in individuals suffering from cancer. For some types of cancer, early detection of ...	Celotno besedilo