Infectious complications of propionic acidemia in Saudia Arabia.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 90, doi. 10.1111/j.1399-0004.1998.tb03702.x
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- Publication type:
- Article
Works matching IS 00099163 AND DT 1998 AND VI 54 AND IP 1
Results: 26
1
2
Sac I identifies a biallelic polymorphism in the coding sequence of the gamma subunit of the epithelial sodium channel (ENaC): a candidate gene for hypertension.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 104, doi. 10.1111/j.1399-0004.1998.tb03705.x
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- Publication type:
- Article
3
De novo direct duplication 2 (p12 p21) with paternally inherited pericentric inversion 2p11.2 2q12.2.
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- Clinical Genetics, 1998, v. 54, n. 1, p. 65, doi. 10.1111/j.1399-0004.1998.tb03696.x
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- Publication type:
- Article
4
Functional mosaic trisomy of 1q12 1q21 resulting from X-autosome insertion translocation with random inactivation.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 70, doi. 10.1111/j.1399-0004.1998.tb03697.x
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- Publication type:
- Article
5
Female external genitalia, absent uterus, and probable agonadism in a 46,XY infant with bilateral upper amelia.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 52, doi. 10.1111/j.1399-0004.1998.tb03693.x
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- Publication type:
- Article
6
Spinal muscular atrophy: a disease of altered RNA metabolism?
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 23, doi. 10.1111/j.1399-0004.1998.tb03688.x
- Publication type:
- Article
7
Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 74, doi. 10.1111/j.1399-0004.1998.tb03698.x
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- Publication type:
- Article
8
Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 45, doi. 10.1111/j.1399-0004.1998.tb03692.x
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- Publication type:
- Article
9
Phenotypic and genotypic variability in monozygotic triplets with Turner syndrome.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 56, doi. 10.1111/j.1399-0004.1998.tb03694.x
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- Publication type:
- Article
10
SKALP/elafin gene polymorphisms are not associated with pustular forms of psoriasis.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 96, doi. 10.1111/j.1399-0004.1998.tb03703.x
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- Publication type:
- Article
11
Hemochromatosis: genetics helps to define a multifactorial disease.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 1, doi. 10.1111/j.1399-0004.1998.tb03683.x
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- Publication type:
- Article
12
Polymorphic exonic CAG microsatellites in the gene amplified in breast cancer ( AIB1 gene).
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 102, doi. 10.1111/j.1399-0004.1998.tb03704.x
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- Publication type:
- Article
13
Apolipoprotein E and A-IV polymorphisms in the Estonian population.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 106, doi. 10.1111/j.1399-0004.1998.tb03706.x
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- Publication type:
- Article
14
Recent progress in the molecular genetics of congenital heart defects.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 11, doi. 10.1111/j.1399-0004.1998.tb03685.x
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- Publication type:
- Article
15
An unexpected cause for combined deficiency of coagulation factors V and VIII.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 22, doi. 10.1111/j.1399-0004.1998.tb03687.x
- Publication type:
- Article
16
Association of long variants of the dopamine D4 receptor exon 3 repeat polymorphism with Parkinson's disease.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 33, doi. 10.1111/j.1399-0004.1998.tb03690.x
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- Publication type:
- Article
17
Linkage analysis in a large Spanish family with X-linked retinitis pigmentosa: phenotype-genotype correlation.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 26, doi. 10.1111/j.1399-0004.1998.tb03689.x
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- Publication type:
- Article
18
Developmental Biology: Frontiers for Clinical Genetics.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 10, doi. 10.1111/j.1399-0004.1998.tb03684.x
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- Publication type:
- Article
19
Autosomal dominant inheritance of adducted thumbs and other digital anomalies.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 83, doi. 10.1111/j.1399-0004.1998.tb03700.x
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- Publication type:
- Article
20
Phenotypic spectrum of tetrasomy 12p and prenatal counseling: potential underestimation of severity.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 108, doi. 10.1111/j.1399-0004.1998.tb03707.x
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- Publication type:
- Article
21
New insights into the genetics of lissencephaly.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 20, doi. 10.1111/j.1399-0004.1998.tb03686.x
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- Publication type:
- Article
22
A case of Prader - Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13).
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 60, doi. 10.1111/j.1399-0004.1998.tb03695.x
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- Publication type:
- Article
23
Marden-Walker syndrome versus isolated distal arthrogryposis: Evidence that both conditions may be variable manifestations of the same mutated gene.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 86, doi. 10.1111/j.1399-0004.1998.tb03701.x
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- Publication type:
- Article
24
Low frequency of RET mutations in Hirschsprung disease in Sweden.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 39, doi. 10.1111/j.1399-0004.1998.tb03691.x
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- Publication type:
- Article
25
Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 79, doi. 10.1111/j.1399-0004.1998.tb03699.x
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- Publication type:
- Article
26
The use of a specific clinical history in counselling a family with the balanced translocation 46,XY,t(4;12)(p15.2;q21.3): viable offspring with partial monosomy 4p and trisomy 12q.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 1, p. 110, doi. 10.1111/j.1399-0004.1998.tb03708.x
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- Publication type:
- Article