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
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
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
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
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
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
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
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
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
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