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Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.
Caparrós-Martin JA, Valencia M, Pulido V, Martínez-Glez V, Rueda-Arenas I, Amr K, Farra C, Lapunzina P, Ruiz-Perez VL, Temtamy S, Aglan M. Caparrós-Martin JA, et al. Among authors: farra c. Am J Med Genet A. 2013 Jun;161A(6):1354-69. doi: 10.1002/ajmg.a.35938. Epub 2013 Apr 23. Am J Med Genet A. 2013. PMID: 23613367
Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families.
Valencia M, Tabet L, Yazbeck N, Araj A, Ruiz-Perez VL, Charaffedine K, Fares F, Badra R, Farra C. Valencia M, et al. Among authors: farra c. Case Rep Genet. 2015;2015:528481. doi: 10.1155/2015/528481. Epub 2015 Apr 30. Case Rep Genet. 2015. PMID: 26064711 Free PMC article.
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V. Willems M, et al. Among authors: farra c. J Med Genet. 2010 Dec;47(12):797-802. doi: 10.1136/jmg.2009.067298. Epub 2009 Jul 29. J Med Genet. 2010. PMID: 19643772 Free article.
Mutational spectrum of cystic fibrosis in the Lebanese population.
Farra C, Menassa R, Awwad J, Morel Y, Salameh P, Yazbeck N, Majdalani M, Wakim R, Yunis K, Mroueh S, Cabet F. Farra C, et al. J Cyst Fibros. 2010 Dec;9(6):406-10. doi: 10.1016/j.jcf.2010.08.001. Epub 2010 Aug 25. J Cyst Fibros. 2010. PMID: 20797923 Free article.
Abdominal Wall Desmoid during Pregnancy: Diagnostic Challenges.
Awwad J, Hammoud N, Farra C, Fares F, Abi Saad G, Ghazeeri G. Awwad J, et al. Among authors: farra c. Case Rep Obstet Gynecol. 2013;2013:350894. doi: 10.1155/2013/350894. Epub 2013 Jan 3. Case Rep Obstet Gynecol. 2013. PMID: 23346436 Free PMC article.
Dubowitz syndrome: common findings and peculiar urine odor.
Chehade C, Awwad J, Yazbeck N, Majdalani M, Wakim R, Tfayli H, Farra C. Chehade C, et al. Among authors: farra c. Appl Clin Genet. 2013 Oct 8;6:87-90. doi: 10.2147/TACG.S47777. eCollection 2013. Appl Clin Genet. 2013. PMID: 24159261 Free PMC article.
86 results