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5 in total

1. When good CF tests go bad.

Authors: Trudi McDevitt; David Barton
Journal: Eur J Hum Genet Date: 2008-12-03 Impact factor: 4.246

2. Characterization of Δ(G970-T1122)-CFTR, the most frequent CFTR mutant identified in Japanese cystic fibrosis patients.

Authors: Kanako Wakabayashi-Nakao; Yingchun Yu; Miyuki Nakakuki; Tzyh-Chang Hwang; Hiroshi Ishiguro; Yoshiro Sohma
Journal: J Physiol Sci Date: 2018-06-27 Impact factor: 2.781

3. A double hit implicates DIAPH3 as an autism risk gene.

Authors: J A S Vorstman; E van Daalen; G R Jalali; E R E Schmidt; R J Pasterkamp; M de Jonge; E A M Hennekam; E Janson; W G Staal; B van der Zwaag; J P H Burbach; R S Kahn; B S Emanuel; H van Engeland; R A Ophoff
Journal: Mol Psychiatry Date: 2010-03-23 Impact factor: 15.992

4. WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient.

Authors: Marie des Georges; Caroline Guittard; Carine Templin; Jean-Pierre Altiéri; Candice de Carvalho; Michele Ramsay; Mireille Claustres
Journal: J Mol Diagn Date: 2008-10-02 Impact factor: 5.568

5. Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.

Authors: Jenny L Kerschner; Sujana Ghosh; Alekh Paranjapye; Wilmel R Cosme; Marie-Pierre Audrézet; Miyuki Nakakuki; Hiroshi Ishiguro; Claude Férec; Johanna Rommens; Ann Harris
Journal: J Mol Diagn Date: 2018-10-05 Impact factor: 5.568

5 in total