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Results: 1-11 |
Results: 11
CLINICAL VARIABILITY IN 4 DUTCH PATIENTS FROM 3 FAMILIES WITH ANKYLOBLEPHARON ECTODERMAL DEFECTS, CLEFT-LIP AND PALATE (AEC) SYNDROME
Authors: KNOL IE HAMEL BCJ VANHAERINGEN A AUSEMS MGEM
Citation: Ie. Knol et al., CLINICAL VARIABILITY IN 4 DUTCH PATIENTS FROM 3 FAMILIES WITH ANKYLOBLEPHARON ECTODERMAL DEFECTS, CLEFT-LIP AND PALATE (AEC) SYNDROME, European journal of human genetics, 6, 1998, pp. 1140-1140
A PROSPECTIVE-STUDY ON GENETIC RISK-FACTORS IN AN UNSELECTED SAMPLE OF BREAST-CANCER PATIENTS WHO RECEIVE ADJUVANT RADIOTHERAPY
Authors: WARLAMRODENHUIS CC GIMBRERE CHF VANHELVOIRT RP VANDERWIELE KE VASEN HFA VANDERLUYT RB AUSEMS MGEM
Citation: Cc. Warlamrodenhuis et al., A PROSPECTIVE-STUDY ON GENETIC RISK-FACTORS IN AN UNSELECTED SAMPLE OF BREAST-CANCER PATIENTS WHO RECEIVE ADJUVANT RADIOTHERAPY, European journal of cancer, 34, 1998, pp. 548-548
GENOTYPE OF ADULT-ONSET GLYCOGEN-STORAGE-DISEASE TYPE-II IN ASYMPTOMATIC PATIENTS
Authors: AUSEMS MGEM VANDIGGELEN OP SINKE RJ REUSER AJJ WOKKE JHJ
Citation: Mgem. Ausems et al., GENOTYPE OF ADULT-ONSET GLYCOGEN-STORAGE-DISEASE TYPE-II IN ASYMPTOMATIC PATIENTS, Neurology, 50(4), 1998, pp. 2099-2099
ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE DEFICIENCY CAUSED BY A A208T MUTATION - CLINICAL, BIOCHEMICAL AND DNA ANALYSES IN A 4-GENERATION FAMILY
Authors: AUSEMS MGEM BAKKER E BERGER R DURAN M VANDIGGELEN OP KEULEMANS JLM DEVALK HW KNEPPERS ALJ DORLAND L ESKES PF BEEMER FA POLLTHE BT SMEITINK JAM
Citation: Mgem. Ausems et al., ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE DEFICIENCY CAUSED BY A A208T MUTATION - CLINICAL, BIOCHEMICAL AND DNA ANALYSES IN A 4-GENERATION FAMILY, American journal of medical genetics, 68(2), 1997, pp. 236-239
INVOLVEMENT OF ABNORMAL TYPE-V COLLAGEN IN A FAMILY WITH RECURRENT OSTEOGENESIS IMPERFECTA
Authors: AUSEMS MGEM PALS G BEEMER FA NICHOLLS AC
Citation: Mgem. Ausems et al., INVOLVEMENT OF ABNORMAL TYPE-V COLLAGEN IN A FAMILY WITH RECURRENT OSTEOGENESIS IMPERFECTA, American journal of human genetics, 61(4), 1997, pp. 2388-2388
CLEFT-LIP AND CONE-ROD DYSTROPHY IN A CONSANGUINEOUS SIBSHIP
Authors: AUSEMS MGEM WITTEBOLPOST D HENNEKAM RCM
Citation: Mgem. Ausems et al., CLEFT-LIP AND CONE-ROD DYSTROPHY IN A CONSANGUINEOUS SIBSHIP, Clinical dysmorphology, 5(4), 1996, pp. 307-311
ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY IN MALES OF A 5-GENERATION FAMILY, CAUSED BY AN A208T MUTATION
Authors: VANDIGGELEN OP ZAREMBA J HE W KEULEMANS JLM BOER AM REUSER AJJ AUSEMS MGEM SMEITINK JAM KOWALCZYK J PRONICKA E ROKICKI D TARNOWSKADZIDUSZKO E KNEPPERS ALJ BAKKER E
Citation: Op. Vandiggelen et al., ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY IN MALES OF A 5-GENERATION FAMILY, CAUSED BY AN A208T MUTATION, Clinical genetics, 50(5), 1996, pp. 310-316
HOMOZYGOUS DELETION OF EXON-18 LEADS TO DEGRADATION OF THE LYSOSOMAL ALPHA-GLUCOSIDASE PRECURSOR AND TO THE INFANTILE FORM OF GLYCOGEN-STORAGE-DISEASE TYPE-II
Authors: AUSEMS MGEM KROOS MA VANDERKRAAN M SMEITINK JAM KLEIJER WJ VANAMSTEL HKP REUSER AJJ
Citation: Mgem. Ausems et al., HOMOZYGOUS DELETION OF EXON-18 LEADS TO DEGRADATION OF THE LYSOSOMAL ALPHA-GLUCOSIDASE PRECURSOR AND TO THE INFANTILE FORM OF GLYCOGEN-STORAGE-DISEASE TYPE-II, Clinical genetics, 49(6), 1996, pp. 325-328
GENOTYPE-PHENOTYPE CORRELATION IN ADULT-ONSET ACID MALTASE DEFICIENCY
Authors: WOKKE JHJ AUSEMS MGEM VANDENBOOGAARD MJH IPPEL EF VANDIGGELEN O KROOS MA BOER M JENNEKENS FGI REUSER AJJ VANAMSTEL HKP
Citation: Jhj. Wokke et al., GENOTYPE-PHENOTYPE CORRELATION IN ADULT-ONSET ACID MALTASE DEFICIENCY, Annals of neurology, 38(3), 1995, pp. 450-454
GLYCOGEN-STORAGE-DISEASE TYPE-II - FREQUENCY OF 3 COMMON MUTANT ALLELES AND THEIR ASSOCIATED CLINICAL PHENOTYPES STUDIED IN 121 PATIENTS
Authors: KROOS MA VANDERKRAAN M VANDIGGELEN OP KLEIJER WJ REUSER AJJ VANDENBOOGAARD MJ AUSEMS MGEM VANAMSTEL HKP
Citation: Ma. Kroos et al., GLYCOGEN-STORAGE-DISEASE TYPE-II - FREQUENCY OF 3 COMMON MUTANT ALLELES AND THEIR ASSOCIATED CLINICAL PHENOTYPES STUDIED IN 121 PATIENTS, Journal of Medical Genetics, 32(10), 1995, pp. 836-837
18Q- AND 18Q-RETARDED BOY( MOSAICISM IN A MENTALLY)
Authors: AUSEMS MGEM BHOLA SL POSTBLOK CA HENNEKAM RCM DEFRANCE HF
Citation: Mgem. Ausems et al., 18Q- AND 18Q-RETARDED BOY( MOSAICISM IN A MENTALLY), American journal of medical genetics, 53(3), 1994, pp. 296-299
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