Found: 23
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Association of TNF2, a TNF-alpha promoter polymorphism, with septic shock susceptibility and mortality: a multicenter study.
- Published in:
- 1999
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- Publication type:
- journal article
Rapport des Académies nationales de médecine et de pharmacie La biologie médicale en France : évolutions et enjeux.
- Published in:
- Annales de Biologie Clinique, 2022, v. 80, n. 6, p. 551, doi. 10.1684/abc.2022.1775
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- Publication type:
- Article
Rapport des Académies nationales de médecine et de pharmacie sur la biologie médicale La biologie médicale face aux défis de l'évolution des besoins de santé.
- Published in:
- Annales de Biologie Clinique, 2018, v. 76, n. 5, p. 485, doi. 10.1684/abc.2018.1370
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- Publication type:
- Article
2018 devrait être une très belle année pour la SFBC, l'année d'un renouveau.
- Published in:
- Annales de Biologie Clinique, 2018, v. 76, n. 1, p. 5, doi. 10.1684/abc.2018.1321
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- Publication type:
- Article
La réforme du référentiel hors nomenclature des actes de biologie médicale en France : quoi de neuf deux ans après ?
- Published in:
- Annales de Biologie Clinique, 2017, v. 75, n. 4, p. 365, doi. 10.1684/abc.2017.1270
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- Publication type:
- Article
Les biologistes médicaux et la biologie d'urgence: un rendez-vous à ne pas manquer!
- Published in:
- Annales de Biologie Clinique, 2017, v. 75, n. 1, p. 7, doi. 10.1684/abc.2016.1206
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- Publication type:
- Article
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
- Published in:
- Nature Genetics, 2003, v. 33, n. 4, p. 463, doi. 10.1038/ng1122
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- Publication type:
- Article
Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 865, doi. 10.1038/ejhg.2008.15
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- Publication type:
- Article
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 4, p. 260
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- Publication type:
- Article
Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 1, p. 51, doi. 10.1038/sj.ejhg.5200574
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- Publication type:
- Article
Immobilized pH gradients for isoelectric focusing: Interaction between histones and histone-like proteins with the charged polyacrylamide matrix.
- Published in:
- Electrophoresis, 1983, v. 4, n. 6, p. 393, doi. 10.1002/elps.1150040605
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- Publication type:
- Article
Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Longest form of CCTG microsatellite repeat in the promoter of the CD2BP1/PSTPIP1 gene is associated with aseptic abscesses and with Crohn disease in French patients.
- Published in:
- 2010
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- Publication type:
- journal article
Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2.
- Published in:
- PLoS Genetics, 2006, v. 3, n. 4, p. 1648, doi. 10.1371/journal.pgen.0020175
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- Publication type:
- Article
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.
- Published in:
- Human Mutation, 2007, v. 28, n. 1, p. 97, doi. 10.1002/humu.9470
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- Publication type:
- Article
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 ( KAL2).
- Published in:
- Human Mutation, 2005, v. 25, n. 1, p. 98, doi. 10.1002/humu.9298
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- Publication type:
- Article
Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks.
- Published in:
- Nephrology Dialysis Transplantation, 2002, v. 17, n. 7, p. 1212, doi. 10.1093/ndt/17.7.1212
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- Publication type:
- Article
Screening for mutations in factor VIII gene using the single-strand conformation polymorphism.
- Published in:
- Human Mutation, 1995, v. 5, n. 4, p. 357, doi. 10.1002/humu.1380050418
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- Publication type:
- Article
A novel mutation (Arg→Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A.
- Published in:
- Human Mutation, 1992, v. 1, n. 1, p. 77, doi. 10.1002/humu.1380010114
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- Publication type:
- Article
Expression of human F8B, a gene nested within the coagulation factor VIII gene, produces multiple eye defects and developmental alterations in chimeric and transgenic mice.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1291, doi. 10.1093/hmg/8.7.1291
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- Publication type:
- Article
Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 8, p. 1317, doi. 10.1093/hmg/7.8.1317
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- Publication type:
- Article
Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family.
- Published in:
- Kidney International, 2002, v. 61, n. 3, p. 907, doi. 10.1046/j.1523-1755.2002.00205.x
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- Publication type:
- Article
Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene Rapid Communication.
- Published in:
- Kidney International, 2001, v. 59, n. 5, p. 1677, doi. 10.1046/j.1523-1755.2001.0590051677.x
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- Publication type:
- Article