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Results: 1-13 |
Results: 13
IDENTIFICATION OF 2 PAX3 MUTATIONS CAUSING WAARDENBURG SYNDROME, ON WITHIN THE PAIRED DOMAIN (M62V) AND THE OTHER DOWNSTREAM OF THE HOMEODOMAIN (Q282X)
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
MOLECULAR-GENETIC ANALYSIS OF THE GENE ENCODING THE TRIFUNCTIONAL ENZYME MTHFD (METHYLENETETRAHYDROFOLATE-DEHYDROGENASE METHENYLTETRAHYDROFOLATE-CYCLOHYDROLASE, FORMYLTETRAHYDROFOLATE SYNTHETASE) IN PATIENTS WITH NEURAL-TUBE DEFECTS
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
REFINEMENT OF THE LOCUS FOR THE NAIL-PATELLA SYNDROME AT 9Q34
Authors: HOL FA GEURDS MPA MARIMAN ECM KNOERS N
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
PAX GENES AND HUMAN NEURAL-TUBE DEFECTS - AN AMINO-ACID SUBSTITUTION IN PAX1 IN A PATIENT WITH SPINA-BIFIDA
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
LOCALIZATION OF ALAGILLE SYNDROME TO 20P11.2-P12 BY LINKAGE ANALYSIS OF A 3-GENERATION FAMILY
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
PRODUCTION OF NATIVE CREATINE KINASE-B IN INSECT CELLS USING A BACULOVIRUS EXPRESSION VECTOR
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
ABSENCE OF LINKAGE BETWEEN FAMILIAL NEURAL-TUBE DEFECTS AND PAX3 GENE
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
A FRAMESHIFT MUTATION IN THE GENE FOR PAX3 IN A GIRL WITH SPINA-BIFIDA AND MILD SIGNS OF WAARDENBURG-SYNDROME
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
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
Authors: HOL FA GEURDS MPA HAMEL BCJ MARIMAN ECM
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
EXCLUSION MAPPING OF THE GENE FOR X-LINKED NEURAL-TUBE DEFECTS IN AN ICELANDIC FAMILY
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
LINKAGE STUDY OF FAMILIAL MYELOMENINGOCELE AND A CANDIDATE REGION
Authors: SHUGART Y CHATKUPT S HORAN JT DERMODY JJ KOENIGSBERGER MR MARIMAN ECM HAMEL BCJ HOL FA GEURDS MPA STENROOS ES JOHNSON WG
Citation: Y. Shugart et al., LINKAGE STUDY OF FAMILIAL MYELOMENINGOCELE AND A CANDIDATE REGION, Neurology, 43(4), 1993, pp. 285-285
A STUDY ON THE POSSIBLE INVOLVEMENT OF THE PAX3 GENE IN HUMAN NEURAL-TUBE DEFECTS
Authors: HOL FA GEURDS MPA HAMEL BCJ MARIMAN ECM
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
LINKAGE STUDY OF FAMILIAL SPINA-BIFIDA AND THE PAX3 GENE
Authors: GEURDS MPA HOL FA MARIMAN ECM HAMEL BCJ SHUGART Y STENROOS ES KOENIGSBERGER MR JOHNSON WG CHATKUPT S
Citation: Mpa. Geurds et al., LINKAGE STUDY OF FAMILIAL SPINA-BIFIDA AND THE PAX3 GENE, American journal of human genetics, 53(3), 1993, pp. 1693-1693
Risultati: 1-13 |