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Results: 1-14 |
Results: 14
HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES - PHENOTYPICDIFFERENCES BETWEEN PATIENTS WITH THE COMMON DELETION AND A PMP22 FRAME-SHIFT MUTATION
Authors: LENSSEN PPA GABREELSFESTEN AAWM VALENTIJN LJ JONGEN PJH VANBEERSUM SEC VANENGELEN BGM VANWENSEN PJM BOLHUIS PA GABREELS EJM MARIMAN ECM
Citation: Ppa. Lenssen et al., HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES - PHENOTYPICDIFFERENCES BETWEEN PATIENTS WITH THE COMMON DELETION AND A PMP22 FRAME-SHIFT MUTATION, Brain (Print), 121, 1998, pp. 1451-1458
ALLELOTYPE OF PEDIATRIC RHABDOMYOSARCOMA
Authors: VISSER M SIJMONS C BRAS J ARCECI RJ GODFRIED M VALENTIJN LJ VOUTE PA BAAS F
Citation: M. Visser et al., ALLELOTYPE OF PEDIATRIC RHABDOMYOSARCOMA, Oncogene, 15(11), 1997, pp. 1309-1314
RNA EDITING IN H19
Authors: VALENTIJN LJ VISSER M SIJMONS CC ARCECI RJ BAAS F
Citation: Lj. Valentijn et al., RNA EDITING IN H19, American journal of human genetics, 61(4), 1997, pp. 1062-1062
CAPRINE HOMOLOG OF RODENT 5'-AMP-ACTIVATED PROTEIN-KINASE SUBUNIT ANDYEAST SNF4 CAT3 IS DOWN-REGULATED BY THYROID-HORMONE/
Authors: PIOSIK PA VANGROENIGEN M PONNE NJ VALENTIJN LJ BOLHUIS PA BAAS F
Citation: Pa. Piosik et al., CAPRINE HOMOLOG OF RODENT 5'-AMP-ACTIVATED PROTEIN-KINASE SUBUNIT ANDYEAST SNF4 CAT3 IS DOWN-REGULATED BY THYROID-HORMONE/, Molecular brain research, 40(2), 1996, pp. 240-253
DEJERINE-SOTTAS NEUROPATHY IS ASSOCIATED WITH A DE-NOVO PMP22 MUTATION
Authors: VALENTIJN LJ OUVRIER RA VANDENBOSCH NHA BOLHUIS PA BAAS F NICHOLSON GA
Citation: Lj. Valentijn et al., DEJERINE-SOTTAS NEUROPATHY IS ASSOCIATED WITH A DE-NOVO PMP22 MUTATION, Human mutation, 5(1), 1995, pp. 76-80
ELUCIDATION OF THE MOLECULAR DEFECT CAUSING A SEVERE TYPE OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES COMMON 1.5 MB DELETION IN CHROMOSOME-17P
Authors: MARIMAN ECM GABREELSFESTEN AAWM VANBEERSUM SEC VALENTIJN LJ BOLHUIS PA BAAS F ROPERS HH GABREELS FJM
Citation: Ecm. Mariman et al., ELUCIDATION OF THE MOLECULAR DEFECT CAUSING A SEVERE TYPE OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES COMMON 1.5 MB DELETION IN CHROMOSOME-17P, American journal of human genetics, 57(4), 1995, pp. 99-99
CHARCOT-MARIE-TOOTH DISEASE TYPE 1A - MORPHOLOGICAL PHENOTYPE OF THE 17P DUPLICATION VERSUS PMP22 POINT MUTATIONS
Authors: GABREELSFESTEN AAWM BOLHUIS PA HOOGENDIJK JE VALENTIJN LJ ESHUIS EJHM GABREELS FJM
Citation: Aawm. Gabreelsfesten et al., CHARCOT-MARIE-TOOTH DISEASE TYPE 1A - MORPHOLOGICAL PHENOTYPE OF THE 17P DUPLICATION VERSUS PMP22 POINT MUTATIONS, Acta Neuropathologica, 90(6), 1995, pp. 645-649
A FRAME-SHIFT MUTATION IN THE PMP22 GENE IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (VOL 6, PG 263, 1994)
Authors: NICHOLSON GA VALENTIJN LJ CHERRYSON AK KENNERSON ML BRAGG TL DEKROON RM ROSS DA POLLARD JD MCLEOD JG BOLHUIS PA BAAS F
Citation: Ga. Nicholson et al., A FRAME-SHIFT MUTATION IN THE PMP22 GENE IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (VOL 6, PG 263, 1994), Nature genetics, 7(1), 1994, pp. 113-113
A FRAME-SHIFT MUTATION IN THE PMP22 GENE IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES
Authors: NICHOLSON GA VALENTIJN LJ CHERRYSON AK KENNERSON ML BRAGG TL DEKROON RM ROSS DA POLLARD JD MCLEOD JG BOLHUIS PA BAAS F
Citation: Ga. Nicholson et al., A FRAME-SHIFT MUTATION IN THE PMP22 GENE IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES, Nature genetics, 6(3), 1994, pp. 263-266
PREVALENCE OF THE 1.5-MB 17P DELETION IN FAMILIES WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES
Authors: MARIMAN ECM GABREELSFESTEN AAWM VANBEERSUM SEC VALENTIJN LJ BAAS F BOLHUIS PA JONGEN PJH ROPERS HH GABREELS FJM
Citation: Ecm. Mariman et al., PREVALENCE OF THE 1.5-MB 17P DELETION IN FAMILIES WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES, Annals of neurology, 36(4), 1994, pp. 650-655
DELETION OF THE SERINE-34 CODON FROM THE MAJOR PERIPHERAL MYELIN PROTEIN-P(0) GENE IN CHARCOT-MARIE-TOOTH DISEASE TYPE-1B
Authors: KULKENS T BOLHUIS PA WOLTERMAN RA KEMP S TENIJENHUIS S VALENTIJN LJ HENSELS GW JENNEKENS FGI DEVISSER M HOOGENDIJK JE BAAS F
Citation: T. Kulkens et al., DELETION OF THE SERINE-34 CODON FROM THE MAJOR PERIPHERAL MYELIN PROTEIN-P(0) GENE IN CHARCOT-MARIE-TOOTH DISEASE TYPE-1B, Nature genetics, 5(1), 1993, pp. 35-39
ALTERNATIVELY SIZED DUPLICATION IN CHARCOT-MARIE-TOOTH DISEASE TYPE 1A
Authors: VALENTIJN LJ BAAS F ZORN I HENSELS GW DEVISSER M BOLHUIS PA
Citation: Lj. Valentijn et al., ALTERNATIVELY SIZED DUPLICATION IN CHARCOT-MARIE-TOOTH DISEASE TYPE 1A, Human molecular genetics, 2(12), 1993, pp. 2143-2146
ALLELIC HETEROGENEITY IN HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE-IA (CHARCOT-MARIE-TOOTH DISEASE TYPE-1A)
Authors: HOOGENDIJK JE JANSSEN EAM GABREELSFESTEN AAWM HENSELS GW JOOSTEN EMG GABREELS FJM ZORN I VALENTIJN LJ BAAS F DEVISSER BWO DEVISSER M BOLHUIS PA
Citation: Je. Hoogendijk et al., ALLELIC HETEROGENEITY IN HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE-IA (CHARCOT-MARIE-TOOTH DISEASE TYPE-1A), Neurology, 43(5), 1993, pp. 1010-1015
QUANTITATIVE MEASUREMENT OF DUPLICATED DNA AS A DIAGNOSTIC-TEST FOR CHARCOT-MARIE-TOOTH DISEASE TYPE-1A
Authors: HENSELS GW JANSSEN EAM HOOGENDIJK JE VALENTIJN LJ BAAS F BOLHUIS PA
Citation: Gw. Hensels et al., QUANTITATIVE MEASUREMENT OF DUPLICATED DNA AS A DIAGNOSTIC-TEST FOR CHARCOT-MARIE-TOOTH DISEASE TYPE-1A, Clinical chemistry, 39(9), 1993, pp. 1845-1849
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