Works matching IS 00099163 AND DT 1997 AND VI 51 AND IP 3
Results: 14
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.
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- Clinical Genetics, 1997, v. 51, n. 3, p. 174, doi. 10.1111/j.1399-0004.1997.tb02448.x
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- Article
De novo duplication of 12pter → p12.1: clinical and cytogenetic diagnosis confirmed by chromosome painting.
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- Clinical Genetics, 1997, v. 51, n. 3, p. 205, doi. 10.1111/j.1399-0004.1997.tb02454.x
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- Article
Prenatal growth retardation, microphthalmos/iris coloboma, cloudy cornea, urogenital anomalies and microcephaly. A possible new sublethal syndrome.
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- Clinical Genetics, 1997, v. 51, n. 3, p. 164, doi. 10.1111/j.1399-0004.1997.tb02446.x
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- Article
Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers.
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- Clinical Genetics, 1997, v. 51, n. 3, p. 179, doi. 10.1111/j.1399-0004.1997.tb02449.x
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- Article
Clinical manifestation of a severe neonatal progeroid syndrome.
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- Clinical Genetics, 1997, v. 51, n. 3, p. 200, doi. 10.1111/j.1399-0004.1997.tb02453.x
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- Article
Deletion polymorphism in the angiotensin-converting enzyme gene is not associated with hypertension in a Gulf Arab population.
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- Clinical Genetics, 1997, v. 51, n. 3, p. 211, doi. 10.1111/j.1399-0004.1997.tb02455.x
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- Article
Carrier screening for cystic fibrosis in primary care: evaluation of a project in South Wales The South Wales Cystic Fibrosis Carrier Screening Research Team.
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- Clinical Genetics, 1997, v. 51, n. 3, p. 153, doi. 10.1111/j.1399-0004.1997.tb02445.x
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- Article
Genetic mapping using fluorescent quantification of allele frequencies in pooled DNA loaded by solid support.
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- Clinical Genetics, 1997, v. 51, n. 3, p. 145, doi. 10.1111/j.1399-0004.1997.tb02444.x
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- Article
Delineation of a ring chromosome 16 by the FISH-technique: a case report with review.
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- Clinical Genetics, 1997, v. 51, n. 3, p. 196, doi. 10.1111/j.1399-0004.1997.tb02452.x
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A study of possible deleterious effects of consanguinity.
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- Clinical Genetics, 1997, v. 51, n. 3, p. 167, doi. 10.1111/j.1399-0004.1997.tb02447.x
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Short Communication: Little phenotypic variability in three CF sibs compound heterozygous for the 621 + 1G ← T and the 711 + 1G ← T mutations.
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- Clinical Genetics, 1997, v. 51, n. 3, p. 214, doi. 10.1111/j.1399-0004.1997.tb02456.x
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- Article
A novel point mutation (Pro84 ← Ser) of the low density lipoprotein receptor gene in a family with moderate hypercholesterolemia.
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- Clinical Genetics, 1997, v. 51, n. 3, p. 191, doi. 10.1111/j.1399-0004.1997.tb02451.x
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- Article
Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome.
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- Clinical Genetics, 1997, v. 51, n. 3, p. 184, doi. 10.1111/j.1399-0004.1997.tb02450.x
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Announcements.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 3, p. 217, doi. 10.1111/j.1399-0004.1997.tb02457.x
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- Article