Bartoloni Riotto, Lucia

 
 
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2013

Scientific Articles

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Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary DyskinesiaMoore, Daniel J.; Onoufriadis, Alexandros; Shoemark, Amelia; Simpson, Michael A.; ... Mitchison, Hannah M.

2011

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Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencingRatnamala, Uppala; Lyle, Robert; Rawal, Rakesh; Singh, Raminder; ... Radhakrishna, Uppala

2008

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DNAI1 mutations explain only 2% of primary ciliary dykinesiaFailly, Mike; Saitta, Alexandra; Munoz, Analia; Falconnet, Emilie; ... Blouin, Jean-Louis
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Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutationsSchwabe, Georg C.; Hoffmann, Katrin; Loges, Niki Tomas; Birker, Daniel; ... Bartoloni, Lucia

2007

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Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1Beiraghi, Soraya; Nath, S. K.; Gaines, Matthew; Mandhyan, D. D.; ... Radhakrishna, Uppala
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Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardationBottani, Armand; Chelly, Jamel; de Brouwer, A. P.; Pardo, Bruno; ... Conrad, Bernard

2006

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DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defectsHornef, Nada; Olbrich, Heike; Horvath, Judit; Zariwala, M. A.; ... Omran, Heymut
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