Published in Dev Biol on November 01, 1983
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An isolated cardiac conduction disease maps to chromosome 19q. Circ Res (1995) 0.98
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High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens. N Engl J Med (1993) 0.96
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The variable surface glycoproteins of Trypanosoma equiperdum are phosphorylated. EMBO J (1982) 0.95
Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens. Hum Genet (1994) 0.95
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The MICA region determines the first modifier locus in familial Mediterranean fever. Arthritis Rheum (2001) 0.94
Enhanced cytokine mRNA levels in attack-free patients with familial Mediterranean fever. Genes Immun (2002) 0.94
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Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult. Hum Mutat (1995) 0.93
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Familial Mediterranean fever in the 'Chuetas' of Mallorca: a question of Jewish origin or genetic heterogeneity. Eur J Hum Genet (2000) 0.91
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Amprenavir in combination with lamivudine and zidovudine versus lamivudine and zidovudine alone in HIV-1-infected antiretroviral-naive adults. Amprenavir PROAB3001 International Study Team. Antivir Ther (2000) 0.90
Clindamycin and primaquine as primary treatment for mild and moderately severe Pneumocystis carinii pneumonia in patients with AIDS. Eur J Clin Microbiol Infect Dis (1991) 0.89
The distribution of parvalbumins in muscle and in other tissues. FEBS Lett (1975) 0.89
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The primary structure of the major parvalbumin from hake muscle. Overlapping peptides obtained with chemical and enzymatic methods. The complete amino-acid sequence. Eur J Biochem (1973) 0.89
[Genetic susceptibility to mycobacterial disease: Mendelian disorders of the interleukin-12 -interferon-gamma axis]. Rev Mal Respir (2005) 0.88
Effect of surgery on the nontreated hip in severe cerebral palsy. J Pediatr Orthop (2001) 0.88
Isolation and characterization of two protamines St1 and St2 from stallion spermatozoa, and amino-acid sequence of the major protamine St1. Biochim Biophys Acta (1987) 0.87
Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities. Hum Genet (1997) 0.87
Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test. Hum Genet (1998) 0.87
Varus derotation osteotomy for the treatment of hip subluxation and dislocation in cerebral palsy: statistical analysis in 73 hips. J Pediatr Orthop B (2001) 0.87
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Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-gamma receptor 1 deficiency. Bone Marrow Transplant (2006) 0.87
Bacille Calmette-Guérin lymphadenitis and recurrent oral candidiasis in an infant with a new mutation leading to interleukin-12 receptor beta-1 deficiency. J Investig Allergol Clin Immunol (2011) 0.86
An electrophoretic analysis of the basic nuclear proteins of ram spermatids. Exp Cell Res (1975) 0.86
Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone. Hum Genet (1999) 0.85
Expression and subcellular localization of dystrophin in skeletal, cardiac and smooth muscles during the human development. Neuromuscul Disord (1995) 0.85
First putative sequence alterations in the minimal CFTR promoter region. J Med Genet (1999) 0.85
An electrophoretic investigation of mammalian spermatid-specific nuclear proteins. J Reprod Fertil (1982) 0.85
Impaired interferon-gamma production in response to live bacteria and Toll-like receptor agonists in patients with ataxia telangiectasia. Clin Exp Immunol (2006) 0.84
Transformation of ram spermatid chromatin. Exp Cell Res (1978) 0.84