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Results: 1-12 |
Results: 12
GENE LOCALIZATION IN A FAMILY WITH WILSON-TURNER-SYNDROME
Authors: SINKE R VANDENBOOGAARD MJH HENNEKAM RCM DALLINGATHIE GM BEEMER FA PEARSON PL VANAMSTEL JKP
Citation: R. Sinke et al., GENE LOCALIZATION IN A FAMILY WITH WILSON-TURNER-SYNDROME, European journal of human genetics, 6, 1998, pp. 4236-4236
CLINICAL HETEROGENEITY AND NOVEL MUTATIONS IN THE GLYCEROL KINASE GENE IN 3 FAMILIES WITH ISOLATED GLYCEROL KINASE-DEFICIENCY
Authors: SJARIF DR SINKE RJ DURAN M BEEMER FA KLEIJER WJ VANAMSTEL JKP POLLTHE BT
Citation: Dr. Sjarif et al., CLINICAL HETEROGENEITY AND NOVEL MUTATIONS IN THE GLYCEROL KINASE GENE IN 3 FAMILIES WITH ISOLATED GLYCEROL KINASE-DEFICIENCY, Journal of Medical Genetics, 35(8), 1998, pp. 650-656
IDENTIFICATION OF NOVEL BRUTON-TYROSINE-KINASE MUTATIONS IN 10 UNRELATED SUBJECTS WITH X-LINKED AGAMMAGLOBULINEMIA
Authors: BROOIMANS RA VANDERBERG AJAM RIJKERS GT SANDERS LAM VANAMSTEL JKP TILANUS MGJ GRUBBEN MJAL ZEGERS BJM
Citation: Ra. Brooimans et al., IDENTIFICATION OF NOVEL BRUTON-TYROSINE-KINASE MUTATIONS IN 10 UNRELATED SUBJECTS WITH X-LINKED AGAMMAGLOBULINEMIA, Journal of Medical Genetics, 34(6), 1997, pp. 484-488
NOVEL MUTATIONS IN THE GLYCEROL KINASE GENE - MOLECULAR AND CLINICAL HETEROGENEITY IN ISOLATED GLYCEROL KINASE-DEFICIENCY
Authors: VANAMSTEL JKP SJARIF DR DURAN M KLEIJER WJ BEEMER FA SINKE RJ POLL BT
Citation: Jkp. Vanamstel et al., NOVEL MUTATIONS IN THE GLYCEROL KINASE GENE - MOLECULAR AND CLINICAL HETEROGENEITY IN ISOLATED GLYCEROL KINASE-DEFICIENCY, American journal of human genetics, 61(4), 1997, pp. 2013-2013
HEREDITARY TYROSINEMIA TYPE-1 - NOVEL MISSENSE, NONSENSE AND SPLICE CONSENSUS MUTATIONS IN THE HUMAN FUMARYLACETOACETATE HYDROLASE GENE - VARIABILITY OF THE GENOTYPE-PHENOTYPE RELATIONSHIP
Authors: VANAMSTEL JKP BERGMAN AJIW VANBEURDEN EACM ROIJERS JFM PEELEN T VANDENBERG IET POLLTHE BT KVITTINGEN EA BERGER R
Citation: Jkp. Vanamstel et al., HEREDITARY TYROSINEMIA TYPE-1 - NOVEL MISSENSE, NONSENSE AND SPLICE CONSENSUS MUTATIONS IN THE HUMAN FUMARYLACETOACETATE HYDROLASE GENE - VARIABILITY OF THE GENOTYPE-PHENOTYPE RELATIONSHIP, Human genetics, 97(1), 1996, pp. 51-59
UNEVEN X INACTIVATION IN A FEMALE MONOZYGOTIC TWIN PAIR WITH FABRY DISEASE AND DISCORDANT EXPRESSION OF A NOVEL MUTATION IN THE ALPHA-GALACTOSIDASE-A GENE
Authors: REDONNETVERNHET I VANAMSTEL JKP JANSEN RPM WEVERS RA SALVAYRE R LEVADE T
Citation: I. Redonnetvernhet et al., UNEVEN X INACTIVATION IN A FEMALE MONOZYGOTIC TWIN PAIR WITH FABRY DISEASE AND DISCORDANT EXPRESSION OF A NOVEL MUTATION IN THE ALPHA-GALACTOSIDASE-A GENE, Journal of Medical Genetics, 33(8), 1996, pp. 682-688
PHENYLKETONURIA IN THE NETHERLANDS - 93-PERCENT OF THE MUTATIONS ARE DETECTED BY SINGLE-STRAND CONFORMATION ANALYSIS
Authors: VANDERSIJSBOS CJM DIEPSTRATEN CM JUYN JA PLAISIER M GILTAY JC VANSPRONSEN FJ SMIT GPA BERGER R SMEITINK JAM POLLTHE BT VANAMSTEL JKP
Citation: Cjm. Vandersijsbos et al., PHENYLKETONURIA IN THE NETHERLANDS - 93-PERCENT OF THE MUTATIONS ARE DETECTED BY SINGLE-STRAND CONFORMATION ANALYSIS, Human heredity, 46(4), 1996, pp. 185-190
H714Q MUTATION IN WILSON DISEASE IS ASSOCIATED WITH LATE, NEUROLOGICAL PRESENTATION
Authors: HOUWEN RHJ JUYN J HOOGENRAAD TU VANAMSTEL JKP BERGER R
Citation: Rhj. Houwen et al., H714Q MUTATION IN WILSON DISEASE IS ASSOCIATED WITH LATE, NEUROLOGICAL PRESENTATION, Journal of Medical Genetics, 32(6), 1995, pp. 480-482
DETERMINATION OF THE GENETIC-DEFECTS IN 2 FORMS OF PHOSPHORYLASE-KINASE DEFICIENCY
Authors: VANDENBERG IET VANBEURDEN EACM MALINGRE HEM SMEITINK J POLLTHE BT VANAMSTEL JKP BERGER R
Citation: Iet. Vandenberg et al., DETERMINATION OF THE GENETIC-DEFECTS IN 2 FORMS OF PHOSPHORYLASE-KINASE DEFICIENCY, American journal of human genetics, 57(4), 1995, pp. 1334-1334
HEREDITARY TYROSINEMIA TYPE-I (HT1) - IVS6-1(G-T) AND IVS12-A) ARE COMMON MUTATIONS IN THE FUMARYLACETOACETASE (FAH) GENE OF PATIENTS OF EUROPEAN AND MEDITERRANEAN(5(G)
Authors: VANAMSTEL JKP BERGMAN AJIW VANDENBERG IET POLLTHE BT BERGER R
Citation: Jkp. Vanamstel et al., HEREDITARY TYROSINEMIA TYPE-I (HT1) - IVS6-1(G-T) AND IVS12-A) ARE COMMON MUTATIONS IN THE FUMARYLACETOACETASE (FAH) GENE OF PATIENTS OF EUROPEAN AND MEDITERRANEAN(5(G), American journal of human genetics, 57(4), 1995, pp. 1441-1441
6 NOVEL MUTATIONS IN THE ALPHA-GALACTOSIDASE-A GENE IN FAMILIES WITH FABRY DISEASE
Authors: VANAMSTEL JKP JANSEN RPM DEJONG JGN HAMEL BCJ WEVERS RA
Citation: Jkp. Vanamstel et al., 6 NOVEL MUTATIONS IN THE ALPHA-GALACTOSIDASE-A GENE IN FAMILIES WITH FABRY DISEASE, Human molecular genetics, 3(3), 1994, pp. 503-505
PRENATAL-DIAGNOSIS OF TYPE-I HEREDITARY TYROSINEMIA
Authors: VANAMSTEL JKP JANSEN RPM VERJAAL M VANDENBERG IET BERGER R
Citation: Jkp. Vanamstel et al., PRENATAL-DIAGNOSIS OF TYPE-I HEREDITARY TYROSINEMIA, Lancet, 344(8918), 1994, pp. 336-336
Risultati: 1-12 |