Found: 40
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Late effects of early growth hormone treatment in Down syndrome.
- Published in:
- Acta Paediatrica, 2010, v. 99, n. 5, p. 763, doi. 10.1111/j.1651-2227.2009.01679.x
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- Publication type:
- Article
Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype.
- Published in:
- Molecular Syndromology, 2010, v. 1, n. 2, p. 75, doi. 10.1159/000314025
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- Publication type:
- Article
Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 6, p. 524, doi. 10.1111/j.1399-0004.2009.01233.x
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- Publication type:
- Article
Increased neonatal thyrotropin in Down syndrome.
- Published in:
- Acta Paediatrica, 2009, v. 98, n. 6, p. 1010, doi. 10.1111/j.1651-2227.2009.01245.x
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- Publication type:
- Article
A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.
- Published in:
- 2009
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- Publication type:
- Journal Article
Increase in beta-amyloid Levels in cerebrospinal fluid of children with down syndrome.
- Published in:
- 2007
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- Publication type:
- Journal Article
Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation.
- Published in:
- Cytogenetic & Genome Research, 2007, v. 118, n. 1, p. 1, doi. 10.1159/000106434
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- Publication type:
- Article
Sickness absence in Swedish parents of children with Down's syndrome: relation to self-perceived health, stress and sense of coherence.
- Published in:
- 2006
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- Publication type:
- Journal Article
Sickness absence in Swedish parents of children with Down’s syndrome: relation to self-perceived health, stress and sense of coherence.
- Published in:
- Journal of Intellectual Disability Research, 2006, v. 50, n. 7, p. 546, doi. 10.1111/j.1365-2788.2006.00810.x
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- Publication type:
- Article
Maternal and neonatal factors and mortality in children with Down syndrome born in 1973-1980 and 1995-1998.
- Published in:
- 2004
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- Publication type:
- journal article
A Novel Nonsense Mutation of the Mineralocorticoid Receptor Gene in a Swedish Family with Pseudohypoaldosteronism Type I (PHA1).
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 1, p. 227, doi. 10.1210/jc.2003-030762
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- Publication type:
- Article
First information and support provided to parents of children with Down syndrome in Sweden: clinical goals and parental experiences.
- Published in:
- 2002
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- Publication type:
- journal article
Swedish parents of children with Down's syndrome: parental stress and sense of coherence in relation to employment rate and time spent in child care.
- Published in:
- 2002
- By:
- Publication type:
- Journal Article
Swedish parents of children with Down's syndrome.
- Published in:
- Scandinavian Journal of Caring Sciences, 2002, v. 16, n. 4, p. 424, doi. 10.1046/j.1471-6712.2002.00109.x
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- Publication type:
- Article
Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 8, p. 663, doi. 10.1002/pd.352
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- Publication type:
- Article
Utilization of medical care among children with Down's syndrome.
- Published in:
- 2002
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- Publication type:
- Journal Article
Utilization of medical care among children with Down’s syndrome.
- Published in:
- Journal of Intellectual Disability Research, 2002, v. 46, n. 4, p. 310, doi. 10.1046/j.1365-2788.2002.00392.x
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- Publication type:
- Article
Self-perceived health in Swedish parents of children with Down's syndrome.
- Published in:
- 2000
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- Publication type:
- journal article
Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 541, doi. 10.1038/sj.ejhg.5200320
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- Publication type:
- Article
Mortality in Down’s syndrome in relation to congenital malformations.
- Published in:
- Journal of Intellectual Disability Research, 1999, v. 43, n. 3, p. 234, doi. 10.1046/j.1365-2788.1999.00198.x
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- Publication type:
- Article
Differential effect of selenium supplementation on immunoglobulin levels in Down's syndrome.
- Published in:
- 1997
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- Publication type:
- clinical trial
The impact of thyroid autoimmunity in children and adolescents with Down syndrome.
- Published in:
- 1997
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- Publication type:
- journal article
Growth and pubertal development in Down syndrome.
- Published in:
- 1996
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- Publication type:
- journal article
Guidelines for optimal medical care of persons with Down syndrome. International League of Societies for Persons with Mental Handicap (ILSMH).
- Published in:
- 1995
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- Publication type:
- journal article
Thyroid antibodies are not a risk factor for pregnancies with Down syndrome.
- Published in:
- 1995
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- Publication type:
- journal article
Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization.
- Published in:
- 1994
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- Publication type:
- journal article
Normalized growth velocity in children with Down's syndrome during growth hormone therapy.
- Published in:
- Journal of Intellectual Disability Research, 1993, v. 37, n. 4, p. 381, doi. 10.1111/j.1365-2788.1993.tb00881.x
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- Publication type:
- Article
Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (Norrbottnian type).
- Published in:
- 1992
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- Publication type:
- journal article
Ectrodactyly-ectodermal dysplasiaclefting syndrome (EEC): the clinical variation and prenatal diagnosis.
- Published in:
- Clinical Genetics, 1991, v. 40, n. 4, p. 257, doi. 10.1111/j.1399-0004.1991.tb03093.x
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- 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
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- Publication type:
- Article
S-100 protein and neuron-specific enolase in amniotic fluid as markers of abdominal wall and neural tube defects in the fetus.
- Published in:
- 1988
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- Publication type:
- journal 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
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- Publication type:
- Article
Increased glutathione peroxidase activity in erythrocytes in patients with Alzheimer's disease/senile dementia of Alzheimer's type.
- Published in:
- Acta Neurologica Scandinavica, 1986, v. 73, n. 6, p. 586, doi. 10.1111/j.1600-0404.1986.tb04604.x
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- Publication type:
- Article
Incidence of trisomy 18 in Sweden in 1981-1982: Clustering in a small region.
- Published in:
- Clinical Genetics, 1986, v. 29, n. 4, p. 345, doi. 10.1111/j.1399-0004.1986.tb01266.x
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- 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
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- Publication type:
- Article
Trace Element Profiles in Individual Blood Cells from Patients with Down's Syndrome.
- Published in:
- Acta Paediatrica, 1985, v. 74, n. 2, p. 259, doi. 10.1111/j.1651-2227.1985.tb10961.x
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- Publication type:
- Article
Two cases of 11p13 interstitial deletion and unusual clinical features.
- Published in:
- Clinical Genetics, 1984, v. 26, n. 3, p. 247, doi. 10.1111/j.1399-0004.1984.tb04380.x
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- Publication type:
- Article
Abnormal interferon production and NK cell responses to interferon in children with Down's syndrome.
- Published in:
- Clinical & Experimental Immunology, 1984, v. 56, n. 3, p. 493
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- Publication type:
- Article
Marker chromosomes in parents to children with Down's syndrome.
- Published in:
- Clinical Genetics, 1984, v. 25, n. 2, p. 140, doi. 10.1111/j.1399-0004.1984.tb00476.x
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- Publication type:
- Article
TRISOMY 9 SYNDROME.
- Published in:
- Acta Paediatrica, 1981, v. 70, n. 1, p. 125, doi. 10.1111/j.1651-2227.1981.tb07185.x
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- Publication type:
- Article