Found: 77
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Achondroplasia in Sweden caused by the G1138A mutation in FGFR3.
- Published in:
- 1996
- By:
- Publication type:
- journal article
Achondroplasia in Sweden caused by the G1 138A mutation in FGFR3.
- Published in:
- Acta Paediatrica, 1996, v. 85, n. 12, p. 1506, doi. 10.1111/j.1651-2227.1996.tb13963.x
- By:
- Publication type:
- Article
Severe mental retardation in 2 to 24-month-old children in Lahore, Pakistan: a prospective cohort study.
- Published in:
- 1995
- By:
- Publication type:
- journal article
Early child health in Lahore, Pakistan: II. Inbreeding.
- Published in:
- Acta Paediatrica, 1993, v. 82, n. s391, p. 17, doi. 10.1111/j.1651-2227.1993.tb12903.x
- By:
- Publication type:
- Article
Low Concentrations of Sodium and Magnesium in Erythrocytes from Cystic Fibrosis Heterozygotes.
- Published in:
- Acta Paediatrica, 1991, v. 80, n. 1, p. 57, doi. 10.1111/j.1651-2227.1991.tb11730.x
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- Publication type:
- Article
Severe Mental Retardation in Jordanian Children.
- Published in:
- Acta Paediatrica, 1990, v. 79, n. 11, p. 1099, doi. 10.1111/j.1651-2227.1990.tb11390.x
- By:
- Publication type:
- Article
Increased Plasma and Erythrocyte Selenium Concentrations but Decreased Erythrocyte Glutathione Peroxidase Activity after Selenium Supplementation in Children with Down Syndrome.
- Published in:
- Acta Paediatrica, 1989, v. 78, n. 6, p. 879, doi. 10.1111/j.1651-2227.1989.tb11167.x
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- Publication type:
- Article
A Case of Complete Trisomy 2p/Triploidy Mosaicism.
- Published in:
- Acta Paediatrica, 1988, v. 77, n. 6, p. 925, doi. 10.1111/j.1651-2227.1988.tb10785.x
- By:
- Publication type:
- Article
Probable Homozygotic Form of the Marfan Syndrome in a Newborn Child.
- Published in:
- Acta Paediatrica, 1988, v. 77, n. 3, p. 452, doi. 10.1111/j.1651-2227.1988.tb10679.x
- By:
- Publication type:
- Article
Selenium Supplementation in X-linked Muscular Dystrophy.
- Published in:
- Acta Paediatrica, 1985, v. 74, n. 6, p. 886, doi. 10.1111/j.1651-2227.1985.tb10053.x
- By:
- Publication type:
- Article
Selenium in Plasma and Erythrocytes in Patients with Down's Syndrome and Healthy Controls.
- Published in:
- Acta Paediatrica, 1985, v. 74, n. 4, p. 508, doi. 10.1111/j.1651-2227.1985.tb11019.x
- By:
- Publication type:
- Article
ZINC AND IMMUNE FUNCTION IN DOWN'S SYNDROME.
- Published in:
- Acta Paediatrica, 1980, v. 69, n. 2, p. 183, doi. 10.1111/j.1651-2227.1980.tb07057.x
- By:
- Publication type:
- Article
Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (Norrbottnian type).
- Published in:
- 1992
- By:
- Publication type:
- journal article
Early prenatal diagnosis of the fragile site AT Xq27.3 associated with Martin-Bell syndrome.
- Published in:
- Prenatal Diagnosis, 1991, v. 11, n. 8, p. 609, doi. 10.1002/pd.1970110818
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- Publication type:
- Article
CHROMOSOMAL MOSAICISM IN TWO EMOTIONALLY DISTURBED ADOLESCENTS WITH KLINEFELTER'S SYNDROME (46, XY/47, XXY AND 46, XY/47, XYY/48, XXYY).
- Published in:
- Acta Psychiatrica Scandinavica, 1968, v. 44, n. 2, p. 190, doi. 10.1111/j.1600-0447.1968.tb07504.x
- By:
- Publication type:
- Article
THE KARYOTYPE IN T. SJÖGREN'S SYNDROME: (Mental Defect, Ichthyosis and Spastic Paralysis.).
- Published in:
- Acta Psychiatrica Scandinavica, 1963, v. 39, n. 1, p. 114, doi. 10.1111/j.1600-0447.1963.tb07460.x
- By:
- Publication type:
- Article
Mild intellectual disability in children in Lahore, Pakistan: Aetiology and risk factors.
- Published in:
- Journal of Intellectual Disability Research, 2004, v. 48, n. 7, p. 663, doi. 10.1111/j.1365-2788.2003.00573.x
- By:
- Publication type:
- Article
MILD MENTAL RETARDATION IN CHILDREN IN A NORTHERN SWEDISH COUNTY.
- Published in:
- Journal of Intellectual Disability Research, 1981, v. 25, n. 3, p. 169, doi. 10.1111/j.1365-2788.1981.tb00107.x
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- Publication type:
- Article
Irreversible Inactivation of the Cationic Groups of Collagen by High-Molecular Acids.
- Published in:
- Nature, 1952, v. 169, n. 4305, p. 757, doi. 10.1038/169757a0
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- Publication type:
- Article
Further Evidence of Genetic Homogeneity in Sjogren-Larsson Syndrome.
- Published in:
- Acta Dermato-Venereologica, 1999, v. 79, n. 1
- By:
- Publication type:
- Article
Multiple severe malformations in a child of a diabetic mother treated with insulin and dibein during pregnancy.
- Published in:
- 1970
- By:
- Publication type:
- journal article
Prof. E. Stiasny.
- Published in:
- Nature, 1966, v. 209, n. 5021, p. 349, doi. 10.1038/209349a0
- By:
- Publication type:
- Article
Re-evaluation of the dysequilibrium syndrome.
- Published in:
- Acta Neurologica Scandinavica, 2011, v. 123, n. 1, p. 28, doi. 10.1111/j.1600-0404.2010.01335.x
- By:
- Publication type:
- Article
Dr. R. O. Page.
- Published in:
- Nature, 1957, v. 180, n. 4594, p. 1024, doi. 10.1038/1801024b0
- By:
- Publication type:
- Article
The Function of Hydroxyproline in Collagens.
- Published in:
- Nature, 1955, v. 175, n. 4445, p. 70, doi. 10.1038/175070a0
- By:
- Publication type:
- Article
THE INCIDENCE OF DIABETES MELLITUS IN SWEDISH CHILDREN 1970-1975.
- Published in:
- Acta Paediatrica, 1978, v. 67, n. 2, p. 139, doi. 10.1111/j.1651-2227.1978.tb16293.x
- By:
- Publication type:
- Article
SEVERE MENTAL RETARDATION IN A SWEDISH COUNTY I. Epidemiology, Gestational Age, Birth Weight and Associated CNS Handicaps in Children Born 1959-70.
- Published in:
- Acta Paediatrica, 1977, v. 66, n. 3, p. 373, doi. 10.1111/j.1651-2227.1977.tb07910.x
- By:
- Publication type:
- Article
IDIOPATHIC HYPOPARATHYROIDISM IN A GIRL WITH TURNER'S SYNDROME.
- Published in:
- Acta Paediatrica, 1972, v. 61, n. 5, p. 724, doi. 10.1111/j.1651-2227.1972.tb15976.x
- By:
- Publication type:
- Article
THE INCIDENCE AND GENETICS OF METACHROMATIC LEUCODYSTROPHY IN NORTHERN SWEDEN.
- Published in:
- Acta Paediatrica, 1971, v. 60, n. 5, p. 585, doi. 10.1111/j.1651-2227.1971.tb06994.x
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- Publication type:
- Article
96. SOME AUTOSOMAL ABERRATIONS ASSOCIATED WITH MENTAL RETARDATION.
- Published in:
- Acta Paediatrica, 1970, v. 59, n. S206, p. 115, doi. 10.1111/j.1651-2227.1970.tb14635.x
- By:
- Publication type:
- Article
IDENTICAL SYNDROMES OF CEREBRAL PALSY IN THE SAME FAMILY.
- Published in:
- Acta Paediatrica, 1969, v. 58, n. 4, p. 330, doi. 10.1111/j.1651-2227.1969.tb04729.x
- By:
- Publication type:
- Article
IMMUNOGLOBULINS IN 13-15 TRISOMY SYNDROME DUE TO A TRANSLOCATION.
- Published in:
- Acta Paediatrica, 1968, v. 57, n. 5, p. 436, doi. 10.1111/j.1651-2227.1968.tb07317.x
- By:
- Publication type:
- Article
Mosaic Trisomy of an Autosome in the 6-12 Group in a Patient With Multiple Congenital Anomalies.
- Published in:
- Acta Paediatrica, 1967, v. 56, n. 6, p. 681, doi. 10.1111/j.1651-2227.1967.tb15996.x
- By:
- Publication type:
- Article
The Pterygium-Colli Syndrome in the Male.
- Published in:
- Acta Paediatrica, 1964, v. 53, n. 5, p. 454, doi. 10.1111/j.1651-2227.1964.tb07251.x
- By:
- Publication type:
- Article
Diverse Chromosomal Anomalies in Two Siblings.
- Published in:
- Acta Paediatrica, 1964, v. 53, n. 4, p. 371, doi. 10.1111/j.1651-2227.1964.tb07791.x
- By:
- Publication type:
- Article
A 4-5/21-22 Chromosomal Translocation Associated with Multiple Congenital Anomalies.
- Published in:
- Acta Paediatrica, 1964, v. 53, n. 2, p. 172, doi. 10.1111/j.1651-2227.1964.tb07224.x
- By:
- Publication type:
- Article
Chromosomal Translocation in a Mongoloid Girl with Some Atypical Features.
- Published in:
- Acta Paediatrica, 1962, v. 51, n. 3, p. 338, doi. 10.1111/j.1651-2227.1962.tb06549.x
- By:
- Publication type:
- Article
Chromosomal Abnormality in a Mongolism-Like Syndrome.
- Published in:
- Acta Paediatrica, 1961, v. 50, n. 3, p. 240, doi. 10.1111/j.1651-2227.1961.tb08169.x
- By:
- Publication type:
- Article
Chromosomal Abnormality in a Mongolism-Like Syndrome.
- Published in:
- Acta Paediatrica, 1959, v. 48, n. 3, p. 240, doi. 10.1111/j.1651-2227.1959.tb16044.x
- By:
- Publication type:
- Article
Hydrothermal Denaturation of Collagen.
- Published in:
- Nature, 1960, v. 188, n. 4748, p. 419, doi. 10.1038/188419a0
- By:
- Publication type:
- Article
Dr. August Gansser-Burckhardt.
- Published in:
- Nature, 1960, v. 186, n. 4725, p. 597, doi. 10.1038/186597a0
- By:
- Publication type:
- Article
Prof. Erik Hägglund.
- Published in:
- Nature, 1959, v. 183, n. 4670, p. 1228, doi. 10.1038/1831228b0
- By:
- Publication type:
- Article
A Novel Type of Metal-Protein Compounds.
- Published in:
- Nature, 1958, v. 182, n. 4643, p. 1125, doi. 10.1038/1821125a0
- By:
- Publication type:
- Article
Prevalence and associated impairments of mild mental retardation in six- to ten-year old children in Pakistan: a prospective study.
- Published in:
- 2002
- By:
- Publication type:
- journal article
A follow-up study of mortality, health conditions and associated disabilities of people with intellectual disabilities in a Swedish county.
- Published in:
- Journal of Intellectual Disability Research, 2005, v. 49, n. 12, p. 905, doi. 10.1111/j.1365-2788.2005.00728.x
- By:
- Publication type:
- Article
Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene.
- Published in:
- Human Molecular Genetics, 1992, v. 1, n. 3, p. 195
- By:
- Publication type:
- Article
Abnormalities of the cerebellum in oro-facio-digital syndrome II (Mohr syndrome).
- Published in:
- Clinical Genetics, 1990, v. 38, n. 1, p. 69, doi. 10.1111/j.1399-0004.1990.tb03549.x
- By:
- Publication type:
- Article
Hereditary spastic diplegia with mental retardation in two young siblings.
- Published in:
- Clinical Genetics, 1989, v. 36, n. 6, p. 439, doi. 10.1111/j.1399-0004.1989.tb03373.x
- By:
- Publication type:
- Article
New type of spinocerebellar degeneration syndrome in a northern Swedish population.
- Published in:
- Clinical Genetics, 1987, v. 32, n. 5, p. 306, doi. 10.1111/j.1399-0004.1987.tb03295.x
- By:
- Publication type:
- Article
Gamma-glutamyl transferase activity in the amniotic fluid of fetuses with chromosomal aberrations and inborn errors of metabolism.
- Published in:
- Clinical Genetics, 1987, v. 32, n. 6, p. 403, doi. 10.1111/j.1399-0004.1987.tb03158.x
- By:
- Publication type:
- Article