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Holocarboxylase synthetase deficiency: Report of a case with onset in late infancy.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 2, p. 115, doi. 10.1023/A:1005485500096
By:
- Touma, E.;
- Suormala, T.;
- Baumgartner, E.;
- Gerbaka, B.;
- Ogier de Baulny, H.;
- Loiselet, J.
Publication type:
Article
Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method.
Published in:
Clinical Genetics, 2002, v. 61, n. 1, p. 71, doi. 10.1034/j.1399-0004.2002.10114.x
By:
- Medlej-Hashim, M;
- Salem, N;
- Chouery, E;
- Rawashdeh, M;
- Delague, V;
- Haffar, M;
- Mansour, I;
- Naman, R;
- Lefranc, G;
- Loiselet, J;
- Mégarbané, A
Publication type:
Article
Exclusion of chromosome 15q21.1 in autosomal-recessive Weill–Marchesani syndrome in an inbred Lebanese family.
Published in:
Clinical Genetics, 2000, v. 58, n. 6, p. 473, doi. 10.1034/j.1399-0004.2000.580608.x
By:
- Mégarbané, A;
- Mustapha, M;
- Bleik, J;
- Waked, N;
- Delague, V;
- Loiselet, J
Publication type:
Article
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkBa/NF-kB pathway in limb-girdle muscular dystrophy type 2A.
Published in:
Nature Medicine, 1999, v. 5, n. 7, p. 849, doi. 10.1038/10579
By:
- Baghdiguian, S.;
- Martin, M.;
- Richard, I.;
- Pons, F.;
- Astier, C.;
- Bourg, N.;
- Hay, R.T.;
- Chemaly, R.;
- Halaby, G.;
- Loiselet, J.;
- Anderson, L.V.B.;
- Lopez de Munain, A.;
- Fardeau, M.;
- Mangeat, P.;
- Beckmann, J.S.;
- Lefranc, G.
Publication type:
Article
Diabetes Mellitus and Optic Atrophy: A Study of Wolfram Syndrome in the Lebanese Population.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 4, p. 1656, doi. 10.1210/jc.2002-030015
By:
- MEDLEJ, R.;
- WASSON, J.;
- BAZ, P.;
- AZAR, S.;
- SALTI, I.;
- LOISELET, J.;
- PERMUTT, A.;
- HALABY, G.
Publication type:
Article
FAMILIAL LACK OF THE IgG3 SUBCLASS: GENE ELIMINATION OR TURNING OFF EXPRESSION AND NEUTRAL EVOLUTION IN THE IMMUNE SYSTEM.
Published in:
International Journal of Immunogenetics, 1979, v. 6, n. 4, p. 215, doi. 10.1111/j.1744-313X.1979.tb00679.x
By:
- Lefranc, G.;
- Dumitresco, S.-M.;
- Salier, J.-P.;
- Rivat, Liliane;
- Lange, Gerda de;
- Loghem, Erna van;
- Loiselet, J.
Publication type:
Article
Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment.
Published in:
British Journal of Haematology, 1998, v. 102, n. 5, p. 1363, doi. 10.1111/j.1365-2141.1998.tb08990.x
By:
- BOZZI, F.;
- LEFRANC, G.;
- VILLA, A.;
- BADOLATO, R.;
- SCHUMACHER, R. F.;
- KHALIL, G.;
- LOISELET, J.;
- BRESCIANI, S.;
- O'SHEA, J. J.;
- VEZZONI, P.;
- NOTARANGELO, L. D.;
- CANDOTTI*, F.
Publication type:
Article

Found: 7

Holocarboxylase synthetase deficiency: Report of a case with onset in late infancy.

Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method.

Exclusion of chromosome 15q21.1 in autosomal-recessive Weill–Marchesani syndrome in an inbred Lebanese family.

Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkBa/NF-kB pathway in limb-girdle muscular dystrophy type 2A.

Diabetes Mellitus and Optic Atrophy: A Study of Wolfram Syndrome in the Lebanese Population.

FAMILIAL LACK OF THE IgG3 SUBCLASS: GENE ELIMINATION OR TURNING OFF EXPRESSION AND NEUTRAL EVOLUTION IN THE IMMUNE SYSTEM.

Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment.