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Results: 1-8 |
Results: 8
SEQUENCE FOSSILS, TRIPLET EXPANSION, AND RECONSTRUCTION OF EARLIEST CODONS
Authors: TRIFONOV EN BETTECKEN T
Citation: En. Trifonov et T. Bettecken, SEQUENCE FOSSILS, TRIPLET EXPANSION, AND RECONSTRUCTION OF EARLIEST CODONS, Gene, 205(1-2), 1997, pp. 1-6
CONSERVATION OF A PUTATIVE APL BINDING-SITE AND COMPLETE HOMOLOGY TO A FETAL BRAIN EST IN A REGION UPSTREAM OF THE CORE MUSCLE PROMOTER IN THE HUMAN DYSTROPHIN GENE
Authors: PATARNELLO T KLAMUT HJ DANIELI GA BETTECKEN T FRACASSO C
Citation: T. Patarnello et al., CONSERVATION OF A PUTATIVE APL BINDING-SITE AND COMPLETE HOMOLOGY TO A FETAL BRAIN EST IN A REGION UPSTREAM OF THE CORE MUSCLE PROMOTER IN THE HUMAN DYSTROPHIN GENE, Gene, 200(1-2), 1997, pp. 173-176
PHENOTYPE GENOTYPE TROUBLE THROUGH DUPLICATION OF DYSTROPHIN EXON-18/
Authors: HUBNER C JAKUBICZKA S COHN RD VOIT T VONMOERS A SPEER A WEBER A BETTECKEN T
Citation: C. Hubner et al., PHENOTYPE GENOTYPE TROUBLE THROUGH DUPLICATION OF DYSTROPHIN EXON-18/, Annals of neurology, 42(3), 1997, pp. 48-48
NEW MUTATION, 3905INST, ACCOUNTS FOR 4.8-PERCENT OF 1173 CF CHROMOSOMES IN SWITZERLAND AND CAUSES A SEVERE PHENOTYPE
Authors: HERGERSBERG M BALAKRISHNAN J BETTECKEN T CHEVALIERPORST F BRAGGER C BURGER R EINSCHENK I LIECHTIGALLATI S MORRIS M SCHORDERET D THONNEY F MOSER H MALIK N
Citation: M. Hergersberg et al., NEW MUTATION, 3905INST, ACCOUNTS FOR 4.8-PERCENT OF 1173 CF CHROMOSOMES IN SWITZERLAND AND CAUSES A SEVERE PHENOTYPE, Human genetics, 100(2), 1997, pp. 220-223
THE 17P11.2 LOCUS IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSUREPALSIES, IN JUVENILE AND FAMILIAL CARPAL-TUNNEL SYNDROME AND IN HEREDITARY NEURALGIC AMYOTROPHY
Authors: KOWNACKI J FELLENBERG JV ROSLER K SCHNEIDER V BETTECKEN T MOSER H BURGUNDER JM
Citation: J. Kownacki et al., THE 17P11.2 LOCUS IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSUREPALSIES, IN JUVENILE AND FAMILIAL CARPAL-TUNNEL SYNDROME AND IN HEREDITARY NEURALGIC AMYOTROPHY, European journal of neurology, 3(6), 1996, pp. 588-593
A NEW MUTATION, 3905INST, IS PROMINENT AMONG SWISS CF CHROMOSOMES
Authors: HERGERSBERG M BALAKRISHNAN J BETTECKEN T BOZON D BRAGGER C BURGER R EINSCHENK I MORRIS M SCHORDERET D THONNEY F MOSER FH MALIK N
Citation: M. Hergersberg et al., A NEW MUTATION, 3905INST, IS PROMINENT AMONG SWISS CF CHROMOSOMES, American journal of human genetics, 57(4), 1995, pp. 1918-1918
A 400-KB TANDEM DUPLICATION WITHIN THE DYSTROPHIN GENE LEADS TO SEVERE BECKER MUSCULAR-DYSTROPHY
Authors: GOLD R KRESS W BETTECKEN T REICHMANN H MULLER CR
Citation: R. Gold et al., A 400-KB TANDEM DUPLICATION WITHIN THE DYSTROPHIN GENE LEADS TO SEVERE BECKER MUSCULAR-DYSTROPHY, Journal of neurology, 241(5), 1994, pp. 331-334
ON THE ORIGIN OF DELETIONS AND POINT MUTATIONS IN DUCHENNE MUSCULAR-DYSTROPHY - MOST DELETIONS ARISE IN OOGENESIS AND MOST POINT MUTATIONS RESULT FROM EVENTS IN SPERMATOGENESIS
Authors: GRIMM T MENG G LIECHTIGALLATI S BETTECKEN T MULLER CR MULLER B
Citation: T. Grimm et al., ON THE ORIGIN OF DELETIONS AND POINT MUTATIONS IN DUCHENNE MUSCULAR-DYSTROPHY - MOST DELETIONS ARISE IN OOGENESIS AND MOST POINT MUTATIONS RESULT FROM EVENTS IN SPERMATOGENESIS, Journal of Medical Genetics, 31(3), 1994, pp. 183-186
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