Authors:
HOL FA
GEURDS MPA
CREMERS CWRJ
HAMEL BCJ
MARIMAN ECM
Citation: Fa. Hol et al., IDENTIFICATION OF 2 PAX3 MUTATIONS CAUSING WAARDENBURG SYNDROME, ON WITHIN THE PAIRED DOMAIN (M62V) AND THE OTHER DOWNSTREAM OF THE HOMEODOMAIN (Q282X), Human mutation, 1998, pp. 145-147
Authors:
HOL FA
VANDERPUT NMJ
GEURDS MPA
HEIL SG
TRIJBELS FJM
HAMEL BCJ
MARIMAN ECM
BLOM HJ
Citation: Fa. Hol et al., MOLECULAR-GENETIC ANALYSIS OF THE GENE ENCODING THE TRIFUNCTIONAL ENZYME MTHFD (METHYLENETETRAHYDROFOLATE-DEHYDROGENASE METHENYLTETRAHYDROFOLATE-CYCLOHYDROLASE, FORMYLTETRAHYDROFOLATE SYNTHETASE) IN PATIENTS WITH NEURAL-TUBE DEFECTS, Clinical genetics, 53(2), 1998, pp. 119-125
Citation: Fa. Hol et al., REFINEMENT OF THE LOCUS FOR THE NAIL-PATELLA SYNDROME AT 9Q34, American journal of human genetics, 61(4), 1997, pp. 1627-1627
Authors:
HOL FA
GEURDS MPA
CHATKUPT S
SHUGART YY
BALLING R
SCHRANDERSTUMPEL CTR
JOHNSON WG
HAMEL BCJ
MARIMAN ECM
Citation: Fa. Hol et al., PAX GENES AND HUMAN NEURAL-TUBE DEFECTS - AN AMINO-ACID SUBSTITUTION IN PAX1 IN A PATIENT WITH SPINA-BIFIDA, Journal of Medical Genetics, 33(8), 1996, pp. 655-660
Authors:
HOL FA
HAMEL BCJ
GEURDS MPA
HANSMANN I
NABBEN FAE
DANIELS O
MARIMAN ECM
Citation: Fa. Hol et al., LOCALIZATION OF ALAGILLE SYNDROME TO 20P11.2-P12 BY LINKAGE ANALYSIS OF A 3-GENERATION FAMILY, Human genetics, 95(6), 1995, pp. 687-690
Authors:
DEKOK YJM
GEURDS MPA
SISTERMANS EA
USMANY M
VLAK JM
WIERINGA B
Citation: Yjm. Dekok et al., PRODUCTION OF NATIVE CREATINE KINASE-B IN INSECT CELLS USING A BACULOVIRUS EXPRESSION VECTOR, Molecular and cellular biochemistry, 143(1), 1995, pp. 59-65
Authors:
CHATKUPT S
HOL FA
SHUGART YY
GEURDS MPA
STENROOS ES
KOENIGSBERGER MR
HAMEL BCJ
JOHNSON WG
MARIMAN ECM
Citation: S. Chatkupt et al., ABSENCE OF LINKAGE BETWEEN FAMILIAL NEURAL-TUBE DEFECTS AND PAX3 GENE, Journal of Medical Genetics, 32(3), 1995, pp. 200-204
Authors:
HOL FA
HAMEL BCJ
GEURDS MPA
MULLAART RA
BARR FG
MACINA RA
MARIMAN ECM
Citation: Fa. Hol et al., A FRAMESHIFT MUTATION IN THE GENE FOR PAX3 IN A GIRL WITH SPINA-BIFIDA AND MILD SIGNS OF WAARDENBURG-SYNDROME, Journal of Medical Genetics, 32(1), 1995, pp. 52-56
Citation: Fa. Hol et al., AN AMINO-ACID SUBSTITUTION IN PAX1 IN A CHILD WITH SPINA-BIFIDA AND INDICATIONS FOR ALLELIC ASSOCIATION OF THE PAX3 GENE WITH HUMAN NEURAL-TUBE DEFECTS, American journal of human genetics, 57(4), 1995, pp. 1238-1238
Authors:
HOL FA
GEURDS MPA
JENSSON O
HAMEL BCJ
MOORE GE
NEWTON R
MARIMAN ECM
Citation: Fa. Hol et al., EXCLUSION MAPPING OF THE GENE FOR X-LINKED NEURAL-TUBE DEFECTS IN AN ICELANDIC FAMILY, Human genetics, 93(4), 1994, pp. 452-456
Citation: Fa. Hol et al., A STUDY ON THE POSSIBLE INVOLVEMENT OF THE PAX3 GENE IN HUMAN NEURAL-TUBE DEFECTS, American journal of human genetics, 53(3), 1993, pp. 447-447