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Results: 1-16 |
Results: 16
A SENSORINEURAL PROGRESSIVE AUTOSOMAL RECESSIVE FORM OF ISOLATED DEAFNESS, DFNB13, MAPS TO CHROMOSOME 7Q34-Q36
Authors: MUSTAPHA M CHARDENOUX S NIEDER A SALEM N WEISSENBACH J ELZIR E LOISELET J PETIT C
Citation: M. Mustapha et al., A SENSORINEURAL PROGRESSIVE AUTOSOMAL RECESSIVE FORM OF ISOLATED DEAFNESS, DFNB13, MAPS TO CHROMOSOME 7Q34-Q36, European journal of human genetics, 6(3), 1998, pp. 245-250
HEREDITARY BUNDLE-BRANCH DEFECT - MAPPING REFINEMENT AND EVIDENCE FORHETEROGENEITY
Authors: CHEDID R STEPHAN E LOISELET J LEFRANC G BERGER G SAUER U VAKSMANN G VILLAIN E BLAYSAT G BRINK PA CORFIELD V BOUVAGNET P
Citation: R. Chedid et al., HEREDITARY BUNDLE-BRANCH DEFECT - MAPPING REFINEMENT AND EVIDENCE FORHETEROGENEITY, European journal of human genetics, 6, 1998, pp. 4222-4222
ROLE OF JAK3 IN CD40 MEDIATED SIGNALING
Authors: JABARA HH BUCKLEY RH ROBERTS JL LEFRANC G LOISELET J KHALIL G GEHA RS
Citation: Hh. Jabara et al., ROLE OF JAK3 IN CD40 MEDIATED SIGNALING, The FASEB journal, 12(5), 1998, pp. 5344-5344
THE USHER-SYNDROME IN THE LEBANESE POPULATION AND FURTHER REFINEMENT OF THE USH2A CANDIDATE REGION
Authors: SAOUDA M MANSOUR A MOGLABEY YB ELZIR E MUSTAPHA M CHAIB H NEHME A MEGARBANE A LOISELET J PETIT C SLIM R
Citation: M. Saouda et al., THE USHER-SYNDROME IN THE LEBANESE POPULATION AND FURTHER REFINEMENT OF THE USH2A CANDIDATE REGION, Human genetics, 103(2), 1998, pp. 193-198
FURTHER REFINEMENT OF PENDRED SYNDROME LOCUS BY HOMOZYGOSITY ANALYSISTO A 0.8 CM INTERVAL FLANKED BY D7S496 AND D7S2425
Authors: MUSTAPHA M AZAR ST MOGLABEY YB SAOUDA M ZEITOUN G LOISELET J SLIM R
Citation: M. Mustapha et al., FURTHER REFINEMENT OF PENDRED SYNDROME LOCUS BY HOMOZYGOSITY ANALYSISTO A 0.8 CM INTERVAL FLANKED BY D7S496 AND D7S2425, Journal of Medical Genetics, 35(3), 1998, pp. 202-204
MOLECULAR AND BIOCHEMICAL-CHARACTERIZATION OF JAK3 DEFICIENCY IN A PATIENT WITH SEVERE COMBINED IMMUNODEFICIENCY OVER 20 YEARS AFTER BONE-MARROW TRANSPLANTATION - IMPLICATIONS FOR TREATMENT
Authors: BOZZI F LEFRANC G VILLA A BADOLATO R SCHUMACHER RF KHALIL G LOISELET J BRESCIANI S OSHEA JJ VEZZONI P NOTARANGELO LD CANDOTTI F
Citation: F. Bozzi et al., MOLECULAR AND BIOCHEMICAL-CHARACTERIZATION OF JAK3 DEFICIENCY IN A PATIENT WITH SEVERE COMBINED IMMUNODEFICIENCY OVER 20 YEARS AFTER BONE-MARROW TRANSPLANTATION - IMPLICATIONS FOR TREATMENT, British Journal of Haematology, 102(5), 1998, pp. 1363-1366
ROLE OF JAK3 IN CD40-MEDIATED SIGNALING
Authors: JABARA HH BUCKLEY RH ROBERTS JL LEFRANC G LOISELET J KHALIL G GEHA RS
Citation: Hh. Jabara et al., ROLE OF JAK3 IN CD40-MEDIATED SIGNALING, Blood, 92(7), 1998, pp. 2435-2440
PRELINGUAL DEAFNESS - HIGH PREVALENCE OF A 30DELG MUTATION IN THE CONNEXIN 26 GENE
Authors: DENOYELLE F WEIL D MAW MA WILCOX SA LENCH NJ ALLENPOWELL DR OSBORN AH DAHL HHM MIDDLETON A HOUSEMAN MJ DODE C MARLIN S BOULILAELGGAIED A GRATI M AYADI H BENARAB S BITOUN P LINAGRANADE G GODET J MUSTAPHA M LOISELET J ELZIR E AUBOIS A JOANNARD A LEVILLIERS J GARABEDIAN EN MUELLER RF GARDNER RJM PETIT C
Citation: F. Denoyelle et al., PRELINGUAL DEAFNESS - HIGH PREVALENCE OF A 30DELG MUTATION IN THE CONNEXIN 26 GENE, Human molecular genetics, 6(12), 1997, pp. 2173-2177
CYSTIC-FIBROSIS IN LEBANON - DISTRIBUTION OF CFTR MUTATIONS AMONG ARAB COMMUNITIES
Authors: DESGEORGES M MEGARBANE A GUITTARD C CARLES S LOISELET J DEMAILLE J CLAUSTRES M
Citation: M. Desgeorges et al., CYSTIC-FIBROSIS IN LEBANON - DISTRIBUTION OF CFTR MUTATIONS AMONG ARAB COMMUNITIES, Human genetics, 100(2), 1997, pp. 279-283
CLINICAL MANIFESTATION OF A SEVERE NEONATAL PROGEROID SYNDROME
Authors: MEGARBANE A LOISELET J
Citation: A. Megarbane et J. Loiselet, CLINICAL MANIFESTATION OF A SEVERE NEONATAL PROGEROID SYNDROME, Clinical genetics, 51(3), 1997, pp. 200-204
FURTHER REFINEMENT OF THE PENDRED-SYNDROME LOCUS BY HOMOZYGOSITY ANALYSIS TO 0.8-CM INTERVAL FLANKED BY D7S496 AND D7S2456
Authors: SLIM R MUSTAPHA M AZAR ST MOGLABEY YB SAOUDA M ZEITOUN G LOISELET J
Citation: R. Slim et al., FURTHER REFINEMENT OF THE PENDRED-SYNDROME LOCUS BY HOMOZYGOSITY ANALYSIS TO 0.8-CM INTERVAL FLANKED BY D7S496 AND D7S2456, American journal of human genetics, 61(4), 1997, pp. 1720-1720
MULTIPLE INDEPENDENT MOLECULAR ETIOLOGY FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A PATIENTS FROM VARIOUS GEOGRAPHICAL ORIGINS
Authors: RICHARD I BRENGUIER L DINCER P ROUDAUT C BADY B BURGUNDER JM CHEMALY R GARCIA CA HALABY G JACKSON CE KURNIT DM LEFRANC G LEGUM C LOISELET J MERLINI L NIVELONCHEVALLIER A OLLAGNONROMAN E RESTAGNO G TOPALOGLU H BECKMANN JS
Citation: I. Richard et al., MULTIPLE INDEPENDENT MOLECULAR ETIOLOGY FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A PATIENTS FROM VARIOUS GEOGRAPHICAL ORIGINS, American journal of human genetics, 60(5), 1997, pp. 1128-1138
HLA PHENOTYPE POLYMORPHISM IN THE LEBANESE POPULATION
Authors: MANSOUR I KLAYME S NAMAN R LOISELET J HALLE L KAPLAN C
Citation: I. Mansour et al., HLA PHENOTYPE POLYMORPHISM IN THE LEBANESE POPULATION, Transfusion clinique et biologique, 3(5), 1996, pp. 289-295
MAPPING OF DFNB12, A GENE FOR A NON-SYNDROMAL AUTOSOMAL RECESSIVE DEAFNESS, TO CHROMOSOME 10Q21-22
Authors: CHAIB H PLACE C SALEM N DODE C CHARDENOUX S WEISSENBACH J ELZIR E LOISELET J PETIT C
Citation: H. Chaib et al., MAPPING OF DFNB12, A GENE FOR A NON-SYNDROMAL AUTOSOMAL RECESSIVE DEAFNESS, TO CHROMOSOME 10Q21-22, Human molecular genetics, 5(7), 1996, pp. 1061-1064
A GENE RESPONSIBLE FOR A SENSORINEURAL NONSYNDROMIC RECESSIVE DEAFNESS MAPS TO CHROMOSOME 2P22-23
Authors: CHAIB H PLACE C SALEM N CHARDENOUX S VINCENT C WEISSENBACH J ELZIR E LOISELET J PETIT C
Citation: H. Chaib et al., A GENE RESPONSIBLE FOR A SENSORINEURAL NONSYNDROMIC RECESSIVE DEAFNESS MAPS TO CHROMOSOME 2P22-23, Human molecular genetics, 5(1), 1996, pp. 155-158
AN ISOLATED CARDIAC CONDUCTION DISEASE MAPS TO CHROMOSOME 19Q
Authors: DEMEEUS A STEPHAN E DEBRUS S JEAN MK LOISELET J WEISSENBACH J DEMAILLE J BOUVAGNET P
Citation: A. Demeeus et al., AN ISOLATED CARDIAC CONDUCTION DISEASE MAPS TO CHROMOSOME 19Q, Circulation research, 77(4), 1995, pp. 735-740
Risultati: 1-16 |