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Results: 1-24 |
Results: 24
MALFORMATION SYNDROMES AND SKELETAL DYSPLASIAS IN THE MUSEUM VROLIK COLLECTION OF ANATOMICAL SPECIMENS IN AMSTERDAM, THE NETHERLANDS
Authors: OOSTRA RJ BALJET B HENNEKAM RCM
Citation: Rj. Oostra et al., MALFORMATION SYNDROMES AND SKELETAL DYSPLASIAS IN THE MUSEUM VROLIK COLLECTION OF ANATOMICAL SPECIMENS IN AMSTERDAM, THE NETHERLANDS, European journal of human genetics, 6, 1998, pp. 6029-6029
CONGENITAL-ANOMALIES IN THE TERATOLOGICAL COLLECTION OF MUSEUM-VROLIKIN AMSTERDAM, THE NETHERLANDS - III - PRIMARY FIELD DEFECTS, SEQUENCES, AND OTHER COMPLEX ANOMALIES
Authors: OOSTRA RJ BALJET B VERBEETEN BWJM HENNEKAM RCM
Citation: Rj. Oostra et al., CONGENITAL-ANOMALIES IN THE TERATOLOGICAL COLLECTION OF MUSEUM-VROLIKIN AMSTERDAM, THE NETHERLANDS - III - PRIMARY FIELD DEFECTS, SEQUENCES, AND OTHER COMPLEX ANOMALIES, American journal of medical genetics, 80(1), 1998, pp. 46-59
CONGENITAL-ANOMALIES IN THE TERATOLOGICAL COLLECTION OF MUSEUM-VROLIKIN AMSTERDAM, THE NETHERLANDS - IV - CLOSURE DEFECTS OF THE NEURAL-TUBE
Authors: OOSTRA RJ BALJET B HENNEKAM RCM
Citation: Rj. Oostra et al., CONGENITAL-ANOMALIES IN THE TERATOLOGICAL COLLECTION OF MUSEUM-VROLIKIN AMSTERDAM, THE NETHERLANDS - IV - CLOSURE DEFECTS OF THE NEURAL-TUBE, American journal of medical genetics, 80(1), 1998, pp. 60-73
CONGENITAL-ANOMALIES IN THE TERATOLOGICAL COLLECTION OF MUSEUM-VROLIKIN AMSTERDAM, THE NETHERLANDS - V - CONJOINED AND ACARDIAC TWINS
Authors: OOSTRA RJ BALJET B VERBEETEN BWJM HENNEKAM RCM
Citation: Rj. Oostra et al., CONGENITAL-ANOMALIES IN THE TERATOLOGICAL COLLECTION OF MUSEUM-VROLIKIN AMSTERDAM, THE NETHERLANDS - V - CONJOINED AND ACARDIAC TWINS, American journal of medical genetics, 80(1), 1998, pp. 74-89
SEVERE ACROFACIAL DYSOSTOSIS WITH OROFACIAL CLEFTING AND TETRAPHOCOMELIA DIAGNOSED IN THE PLASTER CAST OF A 100-YEAR-OLD ANATOMICAL SPECIMEN
Authors: OOSTRA RJ BALJET B HENNEKAM RCM
Citation: Rj. Oostra et al., SEVERE ACROFACIAL DYSOSTOSIS WITH OROFACIAL CLEFTING AND TETRAPHOCOMELIA DIAGNOSED IN THE PLASTER CAST OF A 100-YEAR-OLD ANATOMICAL SPECIMEN, American journal of medical genetics, 78(2), 1998, pp. 195-197
HISTORICAL ASPECTS OF THE STUDY OF MALFORMATIONS IN THE NETHERLANDS
Authors: BALJET B OOSTRA RJ
Citation: B. Baljet et Rj. Oostra, HISTORICAL ASPECTS OF THE STUDY OF MALFORMATIONS IN THE NETHERLANDS, American journal of medical genetics, 77(2), 1998, pp. 91-99
CONGENITAL-ANOMALIES IN THE TERATOLOGICAL COLLECTION OF MUSEUM VROLIKIN AMSTERDAM, THE NETHERLANDS - I - SYNDROMES WITH MULTIPLE CONGENITAL-ANOMALIES
Authors: OOSTRA RJ BALJET B DIJKSTRA PF HENNEKAM RCM
Citation: Rj. Oostra et al., CONGENITAL-ANOMALIES IN THE TERATOLOGICAL COLLECTION OF MUSEUM VROLIKIN AMSTERDAM, THE NETHERLANDS - I - SYNDROMES WITH MULTIPLE CONGENITAL-ANOMALIES, American journal of medical genetics, 77(2), 1998, pp. 100-115
CONGENITAL-ANOMALIES IN THE TERATOLOGICAL COLLECTION OF MUSEUM VROLIKIN AMSTERDAM, THE NETHERLANDS - II - SKELETAL DYSPLASIAS
Authors: OOSTRA RJ BALJET B DIJKSTRA PF HENNEKAM RCM
Citation: Rj. Oostra et al., CONGENITAL-ANOMALIES IN THE TERATOLOGICAL COLLECTION OF MUSEUM VROLIKIN AMSTERDAM, THE NETHERLANDS - II - SKELETAL DYSPLASIAS, American journal of medical genetics, 77(2), 1998, pp. 116-134
REPLY TO HOFMANN ET-AL
Authors: MACKEY D OOSTRA RJ ROSENBERG T NIKOSKELAINEN E POULTON J BARRATT T BOLHUIS P NORBY S SAVONTAUS ML CHAN C HOWELL N
Citation: D. Mackey et al., REPLY TO HOFMANN ET-AL, American journal of human genetics, 62(2), 1998, pp. 492-495
SMITH-LEMLI-OPITZ SYNDROME DIAGNOSED 130-YEAR-OLD ANATOMICAL SPECIMEN
Authors: OOSTRA RJ BALJET B SCHUTGENS RBH HENNEKAM RCM
Citation: Rj. Oostra et al., SMITH-LEMLI-OPITZ SYNDROME DIAGNOSED 130-YEAR-OLD ANATOMICAL SPECIMEN, American journal of medical genetics, 68(3), 1997, pp. 257-259
ON THE MANY FACES OF LEBER HEREDITARY OPTIC NEUROPATHY
Authors: OOSTRA RJ TIJMES NT COBBEN JM BOLHUIS PA VANNESSELROOIJ BPM HOUTMAN WA DEKOKNAZARUK MM BLEEKERWAGEMAKERS EM
Citation: Rj. Oostra et al., ON THE MANY FACES OF LEBER HEREDITARY OPTIC NEUROPATHY, Clinical genetics, 51(6), 1997, pp. 388-393
A GENE FOR X-LINKED OPTIC ATROPHY IS CLOSELY LINKED TO THE XP11.4-XP11.2 REGION OF THE X-CHROMOSOME
Authors: ASSINK JJM TIJMES NT TENBRINK JB OOSTRA RJ RIEMSLAG FC DEJONG PTVM BERGEN AAB
Citation: Jjm. Assink et al., A GENE FOR X-LINKED OPTIC ATROPHY IS CLOSELY LINKED TO THE XP11.4-XP11.2 REGION OF THE X-CHROMOSOME, American journal of human genetics, 61(4), 1997, pp. 934-939
NO EVIDENCE FOR SKEWED INACTIVATION OF THE X-CHROMOSOME AS CAUSE OF LEBERS HEREDITARY OPTIC NEUROPATHY IN FEMALE CARRIERS
Authors: OOSTRA RJ KEMP S BOLHUIS PA BLEEKERWAGEMAKERS EM
Citation: Rj. Oostra et al., NO EVIDENCE FOR SKEWED INACTIVATION OF THE X-CHROMOSOME AS CAUSE OF LEBERS HEREDITARY OPTIC NEUROPATHY IN FEMALE CARRIERS, Human genetics, 97(4), 1996, pp. 500-505
A FAMILY WITH X-LINKED OPTIC ATROPHY
Authors: ASSINK JJM TIJMES NT OOSTRA RJ TENBRINK JB RIEMSLAG FCC DEJONG PTVM BERGEN AAB
Citation: Jjm. Assink et al., A FAMILY WITH X-LINKED OPTIC ATROPHY, Vision research, 36, 1996, pp. 3236-3236
MRI AND CT CHARACTERIZATION IN CYCLOPIA AND CEBOCEPHALIA
Authors: BALJET B VERBEETEN BWJM OOSTRA RJ VANDERWERF F
Citation: B. Baljet et al., MRI AND CT CHARACTERIZATION IN CYCLOPIA AND CEBOCEPHALIA, Vision research, 36, 1996, pp. 3338-3338
PRIMARY PATHOGENIC MTDNA MUTATIONS IN MULTIGENERATION PEDIGREES WITH LEBER HEREDITARY OPTIC NEUROPATHY
Authors: MACKEY DA OOSTRA RJ ROSENBERG T NIKOSKELAINEN E BRONTESTEWART J POULTON J HARDING AE GOVAN G BOLHUIS PA NORBY S BLEEKERWAGEMAKERS EM SAVONTAUS ML CHAN C HOWELL N
Citation: Da. Mackey et al., PRIMARY PATHOGENIC MTDNA MUTATIONS IN MULTIGENERATION PEDIGREES WITH LEBER HEREDITARY OPTIC NEUROPATHY, American journal of human genetics, 59(2), 1996, pp. 481-485
LEBER HEREDITARY OPTIC NEUROPATHY - IMPLICATIONS OF THE SEX-RATIO FORLINKAGE STUDIES IN FAMILIES WITH THE 3460 ND1 MUTATION
Authors: BLACK GCM CRAIG IW OOSTRA RJ NORBY S ROSENBERG T MORTEN K LABORDE A POULTON J
Citation: Gcm. Black et al., LEBER HEREDITARY OPTIC NEUROPATHY - IMPLICATIONS OF THE SEX-RATIO FORLINKAGE STUDIES IN FAMILIES WITH THE 3460 ND1 MUTATION, Eye, 9, 1995, pp. 513-516
THE MITOCHONDRIAL-DNA MUTATION ND6-ASTERISK-14,484C ASSOCIATED WITH LEBER HEREDITARY OPTIC NEUROPATHY, LEADS TO DEFICIENCY OF COMPLEX-I OF THE RESPIRATORY-CHAIN
Authors: OOSTRA RJ VANGALEN MJM BOLHUIS PA BLEEKERWAGEMAKERS EM VANDENBOGERT C
Citation: Rj. Oostra et al., THE MITOCHONDRIAL-DNA MUTATION ND6-ASTERISK-14,484C ASSOCIATED WITH LEBER HEREDITARY OPTIC NEUROPATHY, LEADS TO DEFICIENCY OF COMPLEX-I OF THE RESPIRATORY-CHAIN, Biochemical and biophysical research communications, 215(3), 1995, pp. 1001-1005
SIMULTANEOUS OCCURRENCE OF THE 11778 (ND4) AND THE 9438 (COX-111) MTDNA MUTATIONS IN LEBER HEREDITARY OPTIC NEUROPATHY - MOLECULAR, BIOCHEMICAL, AND CLINICAL FINDINGS
Authors: OOSTRA RJ VANDENBOGERT C NIJTMANS LGJ VANGALEN MJM ZWART R BOLHUIS PA BLEEKERWAGEMAKERS EM
Citation: Rj. Oostra et al., SIMULTANEOUS OCCURRENCE OF THE 11778 (ND4) AND THE 9438 (COX-111) MTDNA MUTATIONS IN LEBER HEREDITARY OPTIC NEUROPATHY - MOLECULAR, BIOCHEMICAL, AND CLINICAL FINDINGS, American journal of human genetics, 57(4), 1995, pp. 954-957
LEBERS HEREDITARY OPTIC NEUROPATHY - NO SIGNIFICANT EVIDENCE FOR PRIMARY OR SECONDARY PATHOGENICITY OF THE 15-257-MUTATION
Authors: OOSTRA RJ BOLHUIS PA ZORNENDE I DEKOKNAZARUK MM BLEEKERWAGEMAKERS EM
Citation: Rj. Oostra et al., LEBERS HEREDITARY OPTIC NEUROPATHY - NO SIGNIFICANT EVIDENCE FOR PRIMARY OR SECONDARY PATHOGENICITY OF THE 15-257-MUTATION, Human genetics, 94(3), 1994, pp. 265-270
BRACHMANN-DE LANGE SYNDROME AVANT LA LETTRE
Authors: OOSTRA RJ BALJET B HENNEKAM RCM
Citation: Rj. Oostra et al., BRACHMANN-DE LANGE SYNDROME AVANT LA LETTRE, American journal of medical genetics, 52(3), 1994, pp. 267-268
LEBERS HEREDITARY OPTIC NEUROPATHY - CORRELATIONS BETWEEN MITOCHONDRIAL GENOTYPE AND VISUAL OUTCOME
Authors: OOSTRA RJ BOLHUIS PA WIJBURG FA ZORNENDE G BLEEKERWAGEMAKERS EM
Citation: Rj. Oostra et al., LEBERS HEREDITARY OPTIC NEUROPATHY - CORRELATIONS BETWEEN MITOCHONDRIAL GENOTYPE AND VISUAL OUTCOME, Journal of Medical Genetics, 31(4), 1994, pp. 280-286
MITOCHONDRIAL-DNA ANALYSIS AS A DIAGNOSTIC-TOOL IN SINGLETON CASES OFLEBER HEREDITARY OPTIC NEUROPATHY
Authors: OOSTRA RJ BOLHUIS PA BLEEKERWAGEMAKERS EM
Citation: Rj. Oostra et al., MITOCHONDRIAL-DNA ANALYSIS AS A DIAGNOSTIC-TOOL IN SINGLETON CASES OFLEBER HEREDITARY OPTIC NEUROPATHY, Ophthalmic paediatrics and genetics, 14(3), 1993, pp. 109-115
RESPIRATORY-CHAIN FUNCTION IN LEBERS HEREDITARY OPTIC NEUROPATHY - LACK OF CORRELATION WITH CLINICAL-DISEASE
Authors: CORNELISSEN JC WANDERS RJA BOLHUIS PA BLEEKERWAGEMAKERS E OOSTRA RJ WIJBURG FA
Citation: Jc. Cornelissen et al., RESPIRATORY-CHAIN FUNCTION IN LEBERS HEREDITARY OPTIC NEUROPATHY - LACK OF CORRELATION WITH CLINICAL-DISEASE, Journal of inherited metabolic disease, 16(3), 1993, pp. 531-533
Risultati: 1-24 |