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Results: 1-9 |
Results: 9
BRUCK-SYNDROME - A RARE COMBINATION OF BONE FRAGILITY AND MULTIPLE CONGENITAL JOINT CONTRACTURES
Authors: BRESLAUSIDERIUS EJ ENGLEBERT RHB PALS G VANDERSLUIJS JA
Citation: Ej. Breslausiderius et al., BRUCK-SYNDROME - A RARE COMBINATION OF BONE FRAGILITY AND MULTIPLE CONGENITAL JOINT CONTRACTURES, Journal of pediatric orthopedics. Part B, 7(1), 1998, pp. 35-38
ATELENCEPHALIC MICROCEPHALY - A CASE-REPORT AND REVIEW OF THE LITERATURE
Authors: IPPEL PF BRESLAUSIDERIUS EJ HACK WWM VANDERBLIJ HF BOUVE S BIJLSMA JB
Citation: Pf. Ippel et al., ATELENCEPHALIC MICROCEPHALY - A CASE-REPORT AND REVIEW OF THE LITERATURE, European journal of pediatrics, 157(6), 1998, pp. 493-497
A COMPLEX HEMOGLOBINOPATHY DIAGNOSIS IN A FAMILY WITH BOTH BETA-THALASSEMIA AND ALPHA(0 +)-THALASSEMIA HOMOZYGOSITY/
Authors: GIORDANO PC HARTEVELD CL BOK V VANDELFT P BATELAAN D BRESLAUSIDERIUS EJ BERNINI LF
Citation: Pc. Giordano et al., A COMPLEX HEMOGLOBINOPATHY DIAGNOSIS IN A FAMILY WITH BOTH BETA-THALASSEMIA AND ALPHA(0 +)-THALASSEMIA HOMOZYGOSITY/, British Journal of Haematology, 102(1), 1998, pp. 51-51
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
DELETIONS SPANNING THE NEUROFIBROMATOSIS TYPE-1 GENE - IMPLICATIONS FOR GENOTYPE-PHENOTYPE CORRELATION IN NEUROFIBROMATOSIS TYPE-1
Authors: CNOSSEN MH VANDEREST MN BREUNING MH VANASPEREN CJ BRESLAUSIDERIUS EJ VANDERPLOEG AT DEGOEDEBOLDER A VANDENOUWELAND AMW HALLEY DJJ NIERMEIJER MF
Citation: Mh. Cnossen et al., DELETIONS SPANNING THE NEUROFIBROMATOSIS TYPE-1 GENE - IMPLICATIONS FOR GENOTYPE-PHENOTYPE CORRELATION IN NEUROFIBROMATOSIS TYPE-1, Human mutation, 9(5), 1997, pp. 458-464
PRENATAL AND POSTNATAL INVESTIGATION OF A CASE WITH MILLER-DIEKER SYNDROME DUE TO A FAMILIAL CRYPTIC TRANSLOCATION T(17-20) (P13.3-Q13.3) DETECTED BY FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: VANZELDERENBHOLA SL BRESLAUSIDERIUS EJ BEVERSTOCK GC STOLTEDIJKSTRA I DEVRIES LS DEPATER JM
Citation: Sl. Vanzelderenbhola et al., PRENATAL AND POSTNATAL INVESTIGATION OF A CASE WITH MILLER-DIEKER SYNDROME DUE TO A FAMILIAL CRYPTIC TRANSLOCATION T(17-20) (P13.3-Q13.3) DETECTED BY FLUORESCENCE IN-SITU HYBRIDIZATION, Prenatal diagnosis, 17(2), 1997, pp. 173-179
UNBALANCED KARYOTYPE, DUP 14(Q13-Q22), IN A MOTHER AND HER 2 CHILDREN
Authors: POT MLH GILTAY JC VANWILSEN A BRESLAUSIDERIUS EJ
Citation: Mlh. Pot et al., UNBALANCED KARYOTYPE, DUP 14(Q13-Q22), IN A MOTHER AND HER 2 CHILDREN, Clinical genetics, 50(5), 1996, pp. 398-402
DELETIONS SPANNING THE NEUROFIBROMATOSIS TYPE-1 GENE - ON THE VERGE OF GENOTYPE-PHENOTYPE CORRELATIONS IN NF1
Authors: CROSSEN MH VANDEREST MN DEGOEDEBOLDER A BREUNING MH VANASPEREN CJ BRESLAUSIDERIUS EJ HALLEY DJJ VANDENOUWELAND AMW NIERMEIJER MF
Citation: Mh. Crossen et al., DELETIONS SPANNING THE NEUROFIBROMATOSIS TYPE-1 GENE - ON THE VERGE OF GENOTYPE-PHENOTYPE CORRELATIONS IN NF1, American journal of human genetics, 57(4), 1995, pp. 1371-1371
PATERNAL DUPLICATION OF CHROMOSOME-5Q11.2-5Q14 IN A MALE BORN WITH CRANIOSTENOSIS, EAR TAGS, KIDNEY DYSPLASIA AND SEVERAL OTHER ANOMALIES
Authors: BRESLAUSIDERIUS EJ WIJNEN JT DAUWERSE JG DEPATER JM BEEMER FA KHAN PM
Citation: Ej. Breslausiderius et al., PATERNAL DUPLICATION OF CHROMOSOME-5Q11.2-5Q14 IN A MALE BORN WITH CRANIOSTENOSIS, EAR TAGS, KIDNEY DYSPLASIA AND SEVERAL OTHER ANOMALIES, Human genetics, 92(5), 1993, pp. 481-485
Risultati: 1-9 |