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Collection
NARA Subscribed6
Publisher
Springer Nature6
Journal
✓Human Genetics6
Publication Year
20011
20003
19992
F. CASALS results 6 · Newest (Page 1/1, per page 25)
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Journal: Human Genetics ×Author: F. CASALS ×Clear All Filters
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Genetic basis of mitochondrial HMG-CoA synthase deficiencyNARA Subscribed
Human Genetics · 2001 · Vol. 109 · Issue 1 · Springer
Rosa Aledo; Johannes Zschocke; Juan Pié; Cecilia Mir; Sonja Fiesel; Ertan Mayatepek; Georg F. Hoffmann; Núria Casals; Fausto G. Hegardt
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Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East EuropeNARA Subscribed
Human Genetics · 2000 · Vol. 106 · Issue 3 · Springer
T. Dörk; M. Macek Jr; F. Mekus; B. Tümmler; J. Tzountzouris; T. Casals; A. Krebsová; M. Koudová; I. Sakmaryová; M. Macek Sr; V. Vávrová; D. Zemková; E. Ginter; N.V. Petrova; T. Ivaschenko; V. Baranov; M. Witt; A. Pogorzelski; J. Bal; C. Zékanowsky; K. Wagner; M. Stuhrmann; I. Bauer; H.H. Seydewitz; T. Neumann; S. Jakubiczka; C. Kraus; B. Thamm; M. Nechiporenko; L. Livshits; N. Mosse; G. Tsukerman; L. Kadási; M. Ravnik-Glavač; D. Glavač; R. Komel; K. Vouk; V. Kučinskas; A. Krumina; M. Teder; S. Kocheva; G.D. Efremov; T. Onay; B. Kirdar; G. Malone; M. Schwarz; Z. Zhou; K.J. Friedman; S. Carles; M. Claustres; D. Bozon; C. Verlingue; C. Férec; M. Tzetis; E. Kanavakis; H. Cuppens; C. Bombieri; P.F. Pignatti; F. Sangiuolo; A. Jordanova; J. Kusic; D. Radojkovič; J. Sertić; D. Richter; A. Stavljenić Rukavina; E. Bjorck; B. Strandvik; H. Cardoso; M. Montgomery; B. Nakielna; D. Hughes; X. Estivill; I. Aznarez; E. Tullis; L.-C. Tsui; J. Zielenski
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A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individualsNARA Subscribed
Human Genetics · 2000 · Vol. 106 · Issue 2 · Springer
C. Bombieri; S. Giorgi; S. Carles; R. de Cid; F. Belpinati; C. Tandoi; N. Pallares-Ruiz; C. Lazaro; B.M. Ciminelli; M.-C. Romey; T. Casals; F. Pompei; G. Gandini; M. Claustres; X. Estivill; P.F. Pignatti; G. Modiano
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A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individualsNARA Subscribed
Human Genetics · 2000 · Vol. 106 · Issue 2 · Springer
C. Bombieri; S. Giorgi; S. Carles; R. de Cid; F. Belpinati; C. Tandoi; N. Pallares-Ruiz; C. Lazaro; B.M. Ciminelli; M.-C. Romey; T. Casals; F. Pompei; G. Gandini; M. Claustres; X. Estivill; P.F. Pignatti; G. Modiano
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Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) aloneNARA Subscribed
Human Genetics · 1999 · Vol. 105 · Issue 1-2 · Springer
M.-C. Romey; C. Guittard; J.-P. Chazalette; P. Frossard; K.P. Dawson; M.A. Patton; T. Casals; T. Bazarbachi; E. Girodon; G. Rault; D. Bozon; F. Seguret; J. Demaille; M. Claustres
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Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) aloneNARA Subscribed
Human Genetics · 1999 · Vol. 105 · Issue 1-2 · Springer
M.-C. Romey; C. Guittard; J.-P. Chazalette; P. Frossard; K.P. Dawson; M.A. Patton; T. Casals; T. Bazarbachi; E. Girodon; G. Rault; D. Bozon; F. Seguret; J. Demaille; M. Claustres
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