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Results: 1-7 |
Results: 7
FAMILIAL NEUROFIBROMATOSIS TYPE-1 ASSOCIATED WITH AN OVERGROWTH SYNDROME RESEMBLING WEAVER-SYNDROME
Authors: VANASPEREN CJ OVERWEGPLANDSOEN WCG CNOSSEN MH VANTIJN DA HENNEKAM RCM
Citation: Cj. Vanasperen et al., FAMILIAL NEUROFIBROMATOSIS TYPE-1 ASSOCIATED WITH AN OVERGROWTH SYNDROME RESEMBLING WEAVER-SYNDROME, Journal of Medical Genetics, 35(4), 1998, pp. 323-327
NEUROFIBROMATOSIS TYPE-2 IN AN ADOLESCENT BOY WITH POLYNEUROPATHY ANDA MUTATION IN THE NF2 GENE
Authors: OVERWEGPLANDSOEN WCG BROUWERMLADIN R MEREL P DEVRIES L BIJLSMA EK
Citation: Wcg. Overwegplandsoen et al., NEUROFIBROMATOSIS TYPE-2 IN AN ADOLESCENT BOY WITH POLYNEUROPATHY ANDA MUTATION IN THE NF2 GENE, Journal of neurology, 243(10), 1996, pp. 724-726
SUPERNUMERARY RING CHROMOSOME-20 CHARACTERIZED BY FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: VANLANGEN IM OTTER MA ARONSON DC OVERWEGPLANDSOEN WCG HENNEKAM RCM LESCHOT NJ HOOVERS JMN
Citation: Im. Vanlangen et al., SUPERNUMERARY RING CHROMOSOME-20 CHARACTERIZED BY FLUORESCENCE IN-SITU HYBRIDIZATION, Clinical genetics, 49(1), 1996, pp. 49-53
OPERCULUM SYNDROME - UNUSUAL FEATURE OF HERPES-SIMPLEX ENCEPHALITIS
Authors: VANDERPOEL JC HAENGGELI CA OVERWEGPLANDSOEN WCG
Citation: Jc. Vanderpoel et al., OPERCULUM SYNDROME - UNUSUAL FEATURE OF HERPES-SIMPLEX ENCEPHALITIS, Pediatric neurology, 12(3), 1995, pp. 246-249
NORMALIZATION OF SEVERE CRANIAL CT SCAN ABNORMALITIES AFTER BIOTIN INA CASE OF BIOTINIDASE DEFICIENCY
Authors: BAKKER HD WESTRA M OVERWEGPLANDSOEN WCG VANWAVEREN G SMITT JHS ABELING NGGM WANDERS RJA SCHUTGENS RBH VANGENNIP AH
Citation: Hd. Bakker et al., NORMALIZATION OF SEVERE CRANIAL CT SCAN ABNORMALITIES AFTER BIOTIN INA CASE OF BIOTINIDASE DEFICIENCY, European journal of pediatrics, 153(11), 1994, pp. 861-862
MOLYBDENUM-COFACTOR DEFICIENCY - AN EASILY MISSED CAUSE OF NEONATAL CONVULSIONS
Authors: SLOT HMJ OVERWEGPLANDSOEN WCG BAKKER HD ABELING NGGM TAMMINGA P BARTH PG VANGENNIP AH
Citation: Hmj. Slot et al., MOLYBDENUM-COFACTOR DEFICIENCY - AN EASILY MISSED CAUSE OF NEONATAL CONVULSIONS, Neuropediatrics, 24(3), 1993, pp. 139-142
MOLYBDENUM COFACTOR DEFICIENCY CAN MIMIC POSTANOXIC ENCEPHALOPATHY
Authors: BAKKER HD ABELING NGGM TENHOUTEN R VANDENBLIJ JF OVERWEGPLANDSOEN WCG WANDERS RJA VANGENNIP AH
Citation: Hd. Bakker et al., MOLYBDENUM COFACTOR DEFICIENCY CAN MIMIC POSTANOXIC ENCEPHALOPATHY, Journal of inherited metabolic disease, 16(5), 1993, pp. 900-901
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