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Results: 5

Authors: LANDSVATER RM JANSEN RPM HOFSTRA RMW BUYS CHCM LIPS CJM VANAMSTEL HKP
Citation: Rm. Landsvater et al., MUTATION ANALYSIS OF THE RET PROTOONCOGENE IN DUTCH FAMILIES WITH MEN2A, MEN 2B AND FMTC - 2 NOVEL MUTATIONS AND ONE DE-NOVO MUTATION FOR MEN 2A, Human genetics, 97(1), 1996, pp. 11-14

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: 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

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

Authors: LIPS CJM LANDSVATER RM HOPPENER JWM GEERDINK RA BLIJHAM G VANVEEN JMJS VANGILS APG DEWIT MJ ZEWALD RA BERENDS MJH BEEMER FA BROUWERSSMALBRAAK J JANSEN RPM VANAMSTEL HKP VANVROONHOVEN TJM VROOM TM
Citation: Cjm. Lips et al., CLINICAL SCREENING AS COMPARED WITH DNA ANALYSIS IN FAMILIES WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A, The New England journal of medicine, 331(13), 1994, pp. 828-835
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