Works matching IS 00099163 AND DT 1995 AND VI 48 AND IP 1
Results: 11
Aarskog syndrome: severe neurological deficit with spastic hemiplegia resulting from perinatal cerebrovascular accidents in two non-related males.
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- Clinical Genetics, 1995, v. 48, n. 1, p. 54, doi. 10.1111/j.1399-0004.1995.tb04055.x
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- Article
Clinical traits and molecular findings in 46,XX males.
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- Clinical Genetics, 1995, v. 48, n. 1, p. 29, doi. 10.1111/j.1399-0004.1995.tb04050.x
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- Article
Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia.
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- Clinical Genetics, 1995, v. 48, n. 1, p. 35, doi. 10.1111/j.1399-0004.1995.tb04051.x
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Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M.
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- Clinical Genetics, 1995, v. 48, n. 1, p. 46, doi. 10.1111/j.1399-0004.1995.tb04053.x
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- Article
Health care utilization and perceptions of health among adolescents and adults with Turner syndrome.
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- Clinical Genetics, 1995, v. 48, n. 1, p. 17, doi. 10.1111/j.1399-0004.1995.tb04048.x
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Parental origin of the X chromosome, X chromosome mosaicism and screening for 'hidden' Y chromosome in 45,X Turner syndrome ascertained cytogenetically.
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- Clinical Genetics, 1995, v. 48, n. 1, p. 6, doi. 10.1111/j.1399-0004.1995.tb04046.x
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- Article
Interstitial deletion of 8p: report of two patients and review of the literature.
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- Clinical Genetics, 1995, v. 48, n. 1, p. 41, doi. 10.1111/j.1399-0004.1995.tb04052.x
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- Article
A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia.
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- Clinical Genetics, 1995, v. 48, n. 1, p. 12, doi. 10.1111/j.1399-0004.1995.tb04047.x
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Complexity of molecular genetics of dyslipidemia in a family highly susceptible to ischemic heart disease.
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- Clinical Genetics, 1995, v. 48, n. 1, p. 23, doi. 10.1111/j.1399-0004.1995.tb04049.x
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- Article
Molecular characterization of trisomic segment 3p24.1→3pter: a case with review of the literature.
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- Clinical Genetics, 1995, v. 48, n. 1, p. 49, doi. 10.1111/j.1399-0004.1995.tb04054.x
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- Article
Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings - a new recessive syndrome?
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- Clinical Genetics, 1995, v. 48, n. 1, p. 1, doi. 10.1111/j.1399-0004.1995.tb04045.x
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- Article