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Aortic root dilatation in Ehlers-Danlos syndrome types I, II and III A report of five cases.
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- Clinical Genetics, 1998, v. 53, n. 6, p. 460, doi. 10.1111/j.1399-0004.1998.tb02595.x
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- Article
Announcements.
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- Clinical Genetics, 1998, v. 53, n. 6, p. 505, doi. 10.1111/j.1399-0004.1998.tb02606.x
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- Article
Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene.
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- Clinical Genetics, 1998, v. 53, n. 6, p. 482, doi. 10.1111/j.1399-0004.1998.tb02600.x
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- Article
Sclerosteosis: report of a case in a black African man.
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- Clinical Genetics, 1998, v. 53, n. 6, p. 497, doi. 10.1111/j.1399-0004.1998.tb02603.x
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- Article
Getting too excited: potassium channelopathies and newborn epilepsy.
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- Clinical Genetics, 1998, v. 53, n. 6, p. 428, doi. 10.1111/j.1399-0004.1998.tb02589.x
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- Article
Identification of microsatellite markers tightly linked to the Gli2 putative zinc finger transcription factor gene.
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- Clinical Genetics, 1998, v. 53, n. 6, p. 488, doi. 10.1111/j.1399-0004.1998.tb02601.x
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- Article
Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical.
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- Clinical Genetics, 1998, v. 53, n. 6, p. 440, doi. 10.1111/j.1399-0004.1998.tb02592.x
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- Article
Recessive or dominant? Reclassification in the molecular age.
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- Clinical Genetics, 1998, v. 53, n. 6, p. 423, doi. 10.1111/j.1399-0004.1998.tb02587.x
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- Article
A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome.
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- Clinical Genetics, 1998, v. 53, n. 6, p. 474, doi. 10.1111/j.1399-0004.1998.tb02598.x
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- Article
Exploring gene-gene interactions in the etiology of neural tube defects.
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- Clinical Genetics, 1998, v. 53, n. 6, p. 456, doi. 10.1111/j.1399-0004.1998.tb02594.x
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- Article
Rsal and Mael intragenic RFLPs in the human HERG gene.
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- Clinical Genetics, 1998, v. 53, n. 6, p. 504, doi. 10.1111/j.1399-0004.1998.tb02605.x
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- Article
Finding the significance of stats: insights into FGFR3 activating mutations in Thanatophoric dysplasia.
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- Clinical Genetics, 1998, v. 53, n. 6, p. 430, doi. 10.1111/j.1399-0004.1998.tb02590.x
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- Article
Evaluation of a clinically applicable mutation screening technique for genetic diagnosis of familial hypercholesterolemia and familial defective apolipoprotein B.
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- Clinical Genetics, 1998, v. 53, n. 6, p. 433, doi. 10.1111/j.1399-0004.1998.tb02591.x
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- Article
Physician knowledge and attitudes towards molecular genetic (DNA) testing of their patients.
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- Clinical Genetics, 1998, v. 53, n. 6, p. 447, doi. 10.1111/j.1399-0004.1998.tb02593.x
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- Article
A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22).
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- Clinical Genetics, 1998, v. 53, n. 6, p. 466, doi. 10.1111/j.1399-0004.1998.tb02596.x
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- Article
Detection of factor V Leiden mutation in severe pre-eclamptic Hungarian women.
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- Clinical Genetics, 1998, v. 53, n. 6, p. 478, doi. 10.1111/j.1399-0004.1998.tb02599.x
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- Article
A novel Dral polymorphism in the 3' untranslated region of human glucose-6-phosphatase gene: useful for carrier detection and prenatal diagnosis of glycogen storage disease type 1a.
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- Clinical Genetics, 1998, v. 53, n. 6, p. 502, doi. 10.1111/j.1399-0004.1998.tb02604.x
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- Article
Prenatal identification of de novo marker chromosomes using micro-FISH approach.
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- Clinical Genetics, 1998, v. 53, n. 6, p. 490, doi. 10.1111/j.1399-0004.1998.tb02602.x
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- Article
Caught in the middle: two genes troubled by trinucleotide expansion in myotonic dystrophy.
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- Clinical Genetics, 1998, v. 53, n. 6, p. 426, doi. 10.1111/j.1399-0004.1998.tb02588.x
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- Article
Presenilin 1 Met146Leu variant due to an A&T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina.
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- Clinical Genetics, 1998, v. 53, n. 6, p. 469, doi. 10.1111/j.1399-0004.1998.tb02597.x
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- Article