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Results: 1-15 |
Results: 15
CHILDHOOD AUTISM - THE NEED FOR PHYSICAL INVESTIGATIONS
Authors: SKJELDAL OH SPONHEIM E GANES T JELLUM E BAKKE S
Citation: Oh. Skjeldal et al., CHILDHOOD AUTISM - THE NEED FOR PHYSICAL INVESTIGATIONS, Brain & development, 20(4), 1998, pp. 227-233
MOLECULAR-BASIS OF REFSUM-DISEASE - IDENTIFICATION OF NEW MUTATIONS IN THE PHYTANOYL-COA HYDROXYLASE CDNA
Authors: JANSEN GA FERDINANDUSSE S SKJELDAL OH STOKKE O DEGROOT CJ JAKOBS C WANDERS RJA
Citation: Ga. Jansen et al., MOLECULAR-BASIS OF REFSUM-DISEASE - IDENTIFICATION OF NEW MUTATIONS IN THE PHYTANOYL-COA HYDROXYLASE CDNA, Journal of inherited metabolic disease, 21(3), 1998, pp. 288-291
REFSUM-DISEASE IS CAUSED BY MUTATIONS IN THE PHYTANOYL-COA HYDROXYLASE GENE
Authors: JANSEN GA FERDINANDUSSE S IJLST L MUIJSERS AO SKJELDAL OH STOKKE O JAKOBS C BESLEY GTN WRAITH JE WANDERS RJA
Citation: Ga. Jansen et al., REFSUM-DISEASE IS CAUSED BY MUTATIONS IN THE PHYTANOYL-COA HYDROXYLASE GENE, Nature genetics, 17(2), 1997, pp. 190-193
EARLY SEIZURE ONSET IN RETT-SYNDROME
Authors: SKJELDAL OH CHRISTEN HJ HAGNE I HANEFELD F HAGBERG B
Citation: Oh. Skjeldal et al., EARLY SEIZURE ONSET IN RETT-SYNDROME, European child & adolescent psychiatry, 6, 1997, pp. 40-41
MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY AND FATAL VALPROATE TOXICITY
Authors: NJOLSTAD PR SKJELDAL OH AGSTERIBBE E HUCKRIEDE A WANNAG E SOVIK O WAALER PE
Citation: Pr. Njolstad et al., MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY AND FATAL VALPROATE TOXICITY, Pediatric neurology, 16(2), 1997, pp. 160-162
MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY AND FATAL VALPROATE TOXICITY
Authors: NJOLSTAD PR SKJELDAL OH AGSTERIBBE E HUCKRIEDE A WANNAG E SOVIK O WAALER PE
Citation: Pr. Njolstad et al., MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY AND FATAL VALPROATE TOXICITY, Pediatric neurology, 16(2), 1997, pp. 160-162
RETT-SYNDROME - GEOGRAPHIC-VARIATION IN PREVALENCE IN NORWAY
Authors: SKJELDAL OH VONTETZCHNER S ASPELUND F HERDER GA LOFTEROD B
Citation: Oh. Skjeldal et al., RETT-SYNDROME - GEOGRAPHIC-VARIATION IN PREVALENCE IN NORWAY, Brain & development, 19(4), 1997, pp. 258-261
MACROCEPHALY, EPILEPSY, AUTISM, DYSMORPHIC FEATURES, AND MENTAL-RETARDATION IN 2 SISTERS - A NEW AUTOSOMAL RECESSIVE SYNDROME
Authors: ORSTAVIK KH STROMME P EK J TORVIK A SKJELDAL OH
Citation: Kh. Orstavik et al., MACROCEPHALY, EPILEPSY, AUTISM, DYSMORPHIC FEATURES, AND MENTAL-RETARDATION IN 2 SISTERS - A NEW AUTOSOMAL RECESSIVE SYNDROME, Journal of Medical Genetics, 34(10), 1997, pp. 849-851
VISION, COGNITION AND DEVELOPMENTAL CHARACTERISTICS OF GIRLS AND WOMEN WITH RETT-SYNDROME
Authors: VONTETZCHNER S JACOBSEN KH SMITH L SKJELDAL OH HEIBERG A FAGAN JF
Citation: S. Vontetzchner et al., VISION, COGNITION AND DEVELOPMENTAL CHARACTERISTICS OF GIRLS AND WOMEN WITH RETT-SYNDROME, Developmental Medicine and Child Neurology, 38(3), 1996, pp. 212-225
RETT-SYNDROME - DISTRIBUTION OF PHENOTYPES WITH SPECIAL ATTENTION TO THE PRESERVED SPEECH VARIANT
Authors: SKJELDAL OH VONTETZCHNER S JACOBSEN K SMITH L HEIBERG A
Citation: Oh. Skjeldal et al., RETT-SYNDROME - DISTRIBUTION OF PHENOTYPES WITH SPECIAL ATTENTION TO THE PRESERVED SPEECH VARIANT, Neuropediatrics, 26(2), 1995, pp. 87-87
PHENOTYPE OF PATIENTS WITH PEROXISOMAL DISORDERS SUBDIVIDED INTO 16 COMPLEMENTATION GROUPS
Authors: MOSER AB RASMUSSEN M NAIDU S WATKINS PA MCGUINNESS M HAJRA AK CHEN G RAYMOND G LIU A GORDON D GARNAAS K WALTON DS SKJELDAL OH GUGGENHEIM MA JACKSON LG ELIAS ER MOSER HW
Citation: Ab. Moser et al., PHENOTYPE OF PATIENTS WITH PEROXISOMAL DISORDERS SUBDIVIDED INTO 16 COMPLEMENTATION GROUPS, The Journal of pediatrics, 127(1), 1995, pp. 13-22
ATYPICAL METHYLMALONIC ACIDURIA WITH PROGRESSIVE ENCEPHALOPATHY, MICROCEPHALY AND CATARACT IN 2 SIBLINGS - A NEW RECESSIVE SYNDROME
Authors: STROMME P STOKKE O JELLUM E SKJELDAL OH BAUMGARTNER R
Citation: P. Stromme et al., ATYPICAL METHYLMALONIC ACIDURIA WITH PROGRESSIVE ENCEPHALOPATHY, MICROCEPHALY AND CATARACT IN 2 SIBLINGS - A NEW RECESSIVE SYNDROME, Clinical genetics, 48(1), 1995, pp. 1-5
RETT VARIANTS - A SUGGESTED MODEL FOR INCLUSION CRITERIA
Authors: HAGBERG BA SKJELDAL OH
Citation: Ba. Hagberg et Oh. Skjeldal, RETT VARIANTS - A SUGGESTED MODEL FOR INCLUSION CRITERIA, Pediatric neurology, 11(1), 1994, pp. 5-11
DYSTONIA AND DYSKINESIA IN GLUTARIC ACIDURIA TYPE-I - CLINICAL HETEROGENEITY AND THERAPEUTIC CONSIDERATIONS
Authors: KYLLERMAN M SKJELDAL OH LUNDBERG M HOLME I JELLUM E VONDOBELN U FOSSEN A CARLSSON G
Citation: M. Kyllerman et al., DYSTONIA AND DYSKINESIA IN GLUTARIC ACIDURIA TYPE-I - CLINICAL HETEROGENEITY AND THERAPEUTIC CONSIDERATIONS, Movement disorders, 9(1), 1994, pp. 22-30
A FATAL, SYSTEMIC MITOCHONDRIAL DISEASE WITH DECREASED MITOCHONDRIAL ENZYME-ACTIVITIES, ABNORMAL ULTRASTRUCTURE OF THE MITOCHONDRIA AND DEFICIENCY OF HEAT-SHOCK PROTEIN-60
Authors: AGSTERIBBE E HUCKRIEDE A VEENHUIS M RUITERS MHJ NIEZENKONING KE SKJELDAL OH SKULLERUD K GUPTA RS HALLBERG R VANDIGGELEN OP SCHOLTE HR
Citation: E. Agsteribbe et al., A FATAL, SYSTEMIC MITOCHONDRIAL DISEASE WITH DECREASED MITOCHONDRIAL ENZYME-ACTIVITIES, ABNORMAL ULTRASTRUCTURE OF THE MITOCHONDRIA AND DEFICIENCY OF HEAT-SHOCK PROTEIN-60, Biochemical and biophysical research communications, 193(1), 1993, pp. 146-154
Risultati: 1-15 |