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Results: 1-25 | 26-33
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POLYMORPHIC DETECTION OF A PARTHENOGENETIC MATERNAL AND DOUBLE PATERNAL CONTRIBUTION TO A 46,XX 46,XY HERMAPHRODITE/
Authors: GILTAY JC BRUNT T BEEMER FA WIT JM VANAMSTEL HKP PEARSON PL WIJMENGA C
Citation: Jc. Giltay et al., POLYMORPHIC DETECTION OF A PARTHENOGENETIC MATERNAL AND DOUBLE PATERNAL CONTRIBUTION TO A 46,XX 46,XY HERMAPHRODITE/, American journal of human genetics, 62(4), 1998, pp. 937-940
GENOTYPE AND PHENOTYPE RELATIONSHIP IN PATIENTS WITH FRIEDREICHS-ATAXIA
Authors: IPPEL E PHILIPPENS RMH SINKE RJ DIEPSTRATEN CM HALLEY DJJ TIJMENSEN ASLN BEEMER FA VANNIEUWENHUIZEN O
Citation: E. Ippel et al., GENOTYPE AND PHENOTYPE RELATIONSHIP IN PATIENTS WITH FRIEDREICHS-ATAXIA, European journal of human genetics, 6, 1998, pp. 1110-1110
GENE LOCALIZATION IN A FAMILY WITH WILSON-TURNER-SYNDROME
Authors: SINKE R VANDENBOOGAARD MJH HENNEKAM RCM DALLINGATHIE GM BEEMER FA PEARSON PL VANAMSTEL JKP
Citation: R. Sinke et al., GENE LOCALIZATION IN A FAMILY WITH WILSON-TURNER-SYNDROME, European journal of human genetics, 6, 1998, pp. 4236-4236
UNUSUAL ASSOCIATION OF CONGENITAL-MALFORMATIONS - CRANIOSYNOSTOSIS, HEART DEFECT, ABNORMAL INTESTINAL INNERVATION AND UROGENITAL ABNORMALITIES
Authors: VANNESSELROOIJ BPM SPLIET W BEEMER FA
Citation: Bpm. Vannesselrooij et al., UNUSUAL ASSOCIATION OF CONGENITAL-MALFORMATIONS - CRANIOSYNOSTOSIS, HEART DEFECT, ABNORMAL INTESTINAL INNERVATION AND UROGENITAL ABNORMALITIES, Clinical dysmorphology, 7(1), 1998, pp. 51-53
DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY - A NOVEL MUTATION AND EXPRESSION OF MISSENSE MUTATIONS IN ESCHERICHIA-COLI (VOL 21, PG 276, 1998)
Authors: VREKEN P VANKUILENBERG ABP MEINSMA R BEEMER FA DURAN M VANGENNIP AH
Citation: P. Vreken et al., DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY - A NOVEL MUTATION AND EXPRESSION OF MISSENSE MUTATIONS IN ESCHERICHIA-COLI (VOL 21, PG 276, 1998), Journal of inherited metabolic disease, 21(6), 1998, pp. 623-623
DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY - A NOVEL MUTATION AND EXPRESSION OF MISSENSE MUTATIONS IN ESCHERICHIA-COLI
Authors: VREKEN P VANKUILENBURG ABP MEINSMA R BEEMER FA DURAN M VANGENNIP AH
Citation: P. Vreken et al., DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY - A NOVEL MUTATION AND EXPRESSION OF MISSENSE MUTATIONS IN ESCHERICHIA-COLI, Journal of inherited metabolic disease, 21(3), 1998, pp. 276-279
CLINICAL HETEROGENEITY AND NOVEL MUTATIONS IN THE GLYCEROL KINASE GENE IN 3 FAMILIES WITH ISOLATED GLYCEROL KINASE-DEFICIENCY
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
COEXISTENCE OF GAUCHER-DISEASE TYPE-1 AND JOUBERT-SYNDROME
Authors: VANROYENKERKHOF A POLLTHE BT KLEIJER W VANDIGGELEN OP AERTS JMFG HOPWOOD JJ BEEMER FA
Citation: A. Vanroyenkerkhof et al., COEXISTENCE OF GAUCHER-DISEASE TYPE-1 AND JOUBERT-SYNDROME, Journal of Medical Genetics, 35(11), 1998, pp. 965-966
VSD, HYPOSPADIAS AND NORMAL PSYCHOMOTOR DEVELOPMENT IN A PATIENT WITHINV DUP 8(Q13-Q21.2)
Authors: GILTAY JC BOKMA JA DEFRANCE H BEEMER FA
Citation: Jc. Giltay et al., VSD, HYPOSPADIAS AND NORMAL PSYCHOMOTOR DEVELOPMENT IN A PATIENT WITHINV DUP 8(Q13-Q21.2), Clinical genetics, 53(1), 1998, pp. 74-78
RESTRICTIVE DERMOPATHY - REPORT OF 12 CASES
Authors: SMITT JHS VANASPEREN CJ NIESSEN CM BEEMER FA VANESSEN AJ HULSMANS RFHJ ORANJE AP STEIJLEN PM WESBYVANSWAAY E TAMMINGA P BRESLAUSIDERIUS EJ
Citation: Jhs. Smitt et al., RESTRICTIVE DERMOPATHY - REPORT OF 12 CASES, Archives of dermatology, 134(5), 1998, pp. 577-579
SPINAL COMPLICATIONS IN OSTEOGENESIS IMPERFECTA - 47 PATIENTS 1-16 YEARS OF AGE
Authors: ENGELBERT RHH GERVER WJM BRESLAUSIDERIUS LJ VANDERGRAAF Y PRUIJS HEH VANDOORNE JM BEEMER FA HELDERS PJM
Citation: Rhh. Engelbert et al., SPINAL COMPLICATIONS IN OSTEOGENESIS IMPERFECTA - 47 PATIENTS 1-16 YEARS OF AGE, Acta orthopaedica Scandinavica, 69(3), 1998, pp. 283-286
PSYCHOLOGICAL RISKS OF GENETICALLY TESTING CHILDREN FOR A HEREDITARY CANCER SYNDROME
Authors: GROSFELD FJM LIPS CJM BEEMER FA VANSPIJKER HG BROUWERSSMALBRAAK GJ TENKROODE HFJ
Citation: Fjm. Grosfeld et al., PSYCHOLOGICAL RISKS OF GENETICALLY TESTING CHILDREN FOR A HEREDITARY CANCER SYNDROME, Patient education and counseling, 32(1-2), 1997, pp. 63-67
THE DUTCH UNIFORM MULTICENTER REGISTRATION SYSTEM FOR GENETIC-DISORDERS AND MALFORMATION SYNDROMES
Authors: ZWAMBORNHANSSEN AMN BIJLSMA JB HENNEKAM EFAM LINDHOUT D BEEMER FA BAKKER E KLEIJER WJ DEFRANCE HF DEDIESMULDERS CEM DURAN M VANGENNIP AH VANMENS JT PEARSON PL MANTEL G VERHAGE RE GERAEDTS JPM
Citation: Amn. Zwambornhanssen et al., THE DUTCH UNIFORM MULTICENTER REGISTRATION SYSTEM FOR GENETIC-DISORDERS AND MALFORMATION SYNDROMES, American journal of medical genetics, 70(4), 1997, pp. 444-447
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
INCREASED RISK FOR INGUINAL-HERNIA IN PATIENTS WITH EHLERS-DANLOS-SYNDROME
Authors: LIEM MSL VANDERGRAAF Y BEEMER FA VANVROONHOVEN TJMV
Citation: Msl. Liem et al., INCREASED RISK FOR INGUINAL-HERNIA IN PATIENTS WITH EHLERS-DANLOS-SYNDROME, Surgery, 122(1), 1997, pp. 114-115
OSTEOGENESIS IMPERFECTA IN CHILDHOOD - IMPAIRMENT AND DISABILITY
Authors: ENGELBERT RHH VANDERGRAAF Y VANEMPELEN R BEEMER FA HELDERS PJM
Citation: Rhh. Engelbert et al., OSTEOGENESIS IMPERFECTA IN CHILDHOOD - IMPAIRMENT AND DISABILITY, Pediatrics, 99(2), 1997, pp. 31-37
SPECTRUM OF CLINICAL-FEATURES ASSOCIATED WITH INTERSTITIAL CHROMOSOME22Q11 DELETIONS - A EUROPEAN COLLABORATIVE STUDY
Authors: RYAN AK GOODSHIP JA WILSON DI PHILIP N LEVY A SEIDEL H SCHUFFENHAUER S OECHSLER H BELOHRADSKY B PRIEUR M AURIAS A RAYMOND FL CLAYTONSMITH J HATCHWELL E MCKEOWN C BEEMER FA DALLAPICCOLA B NOVELLI G HURST JA IGNATIUS J GREEN AJ WINTER RM BRUETON L BRONDUMNIELSEN K STEWART F VANESSEN T PATTON M PATERSON J SCAMBLER PJ
Citation: Ak. Ryan et al., SPECTRUM OF CLINICAL-FEATURES ASSOCIATED WITH INTERSTITIAL CHROMOSOME22Q11 DELETIONS - A EUROPEAN COLLABORATIVE STUDY, Journal of Medical Genetics, 34(10), 1997, pp. 798-804
ANALYSIS OF DNA POLYMORPHISMS IN A PATIENT WITH AMBIGUOUS GENITALIA AND A 46,XX 46,XY MOSAICISM SUGGESTS A HAPLOID MATERNAL GENETIC CONTRIBUTION/
Authors: GILTAY JC BRUNT T BEEMER FA WIT JM VANAMSTEL HKP PEARSON PL WIJMENGA C
Citation: Jc. Giltay et al., ANALYSIS OF DNA POLYMORPHISMS IN A PATIENT WITH AMBIGUOUS GENITALIA AND A 46,XX 46,XY MOSAICISM SUGGESTS A HAPLOID MATERNAL GENETIC CONTRIBUTION/, American journal of human genetics, 61(4), 1997, pp. 716-716
NOVEL MUTATIONS IN THE GLYCEROL KINASE GENE - MOLECULAR AND CLINICAL HETEROGENEITY IN ISOLATED GLYCEROL KINASE-DEFICIENCY
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
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
PILI-BIFURCATI - OCCURRING IN ASSOCIATION WITH THE MOSAIC TRISOMY-8 SYNDROME
Authors: BRESLAUSIDERIUS LJ BEEMER FA BOOM BW
Citation: Lj. Breslausiderius et al., PILI-BIFURCATI - OCCURRING IN ASSOCIATION WITH THE MOSAIC TRISOMY-8 SYNDROME, Clinical dysmorphology, 5(3), 1996, pp. 275-277
PHENOTYPIC AND GENOTYPIC OVERLAP BETWEEN ATELOSTEOGENESIS TYPE-2 AND DIASTROPHIC DYSPLASIA
Authors: ROSSI A VANDERHARTEN HJ BEEMER FA KLEIJER WJ GITZELMANN R STEINMANN B SUPERTIFURGA A
Citation: A. Rossi et al., PHENOTYPIC AND GENOTYPIC OVERLAP BETWEEN ATELOSTEOGENESIS TYPE-2 AND DIASTROPHIC DYSPLASIA, Human genetics, 98(6), 1996, pp. 657-661
FROM MEDICAL HISTORY AND BIOCHEMICAL TESTS TO PRESYMPTOMATIC TREATMENT IN A LARGE MEN 2A FAMILY
Authors: LIPS CJM LANDSVATER RM HOPPENER JWM GEERDINK RA BLIJHAM GH VANVEEN JMJS FELDBERG MAM VANGILS APG HOOGENBOOM H BERENDS MJH BEEMER FA VANAMSTEL HKP VANVROONHOVEN TJMV VROOM TM
Citation: Cjm. Lips et al., FROM MEDICAL HISTORY AND BIOCHEMICAL TESTS TO PRESYMPTOMATIC TREATMENT IN A LARGE MEN 2A FAMILY, Journal of internal medicine, 238(4), 1995, pp. 347-356
FAMILIAL CUTANEOUS CYLINDROMAS - INVESTIGATIONS IN 5 GENERATIONS OF AFAMILY
Authors: GERRETSEN AL BEEMER FA DEENSTRA W HENNEKAM FAM VANVLOTEN WA
Citation: Al. Gerretsen et al., FAMILIAL CUTANEOUS CYLINDROMAS - INVESTIGATIONS IN 5 GENERATIONS OF AFAMILY, Journal of the American Academy of Dermatology, 33(2), 1995, pp. 199-206
AUTOSOMAL-RECESSIVE INHERITANCE OF BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS
Authors: DEKONING TJ SANDKUIJL LA DESCHRYVER JEAR HENNEKAM EAM BEEMER FA HOUWEN RHJ
Citation: Tj. Dekoning et al., AUTOSOMAL-RECESSIVE INHERITANCE OF BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS, American journal of medical genetics, 57(3), 1995, pp. 479-482
Risultati: 1-25 | 26-33