Clinical variability of tetrasomy 12p.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 2, p. 102, doi. 10.1111/j.1399-0004.1997.tb02429.x
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- Publication type:
- Article
Works matching IS 00099163 AND DT 1997 AND VI 51 AND IP 2
Results: 20
1
2
Congenital intractable diarrhea of infancy in Iraqi Jews.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 2, p. 98, doi. 10.1111/j.1399-0004.1997.tb02428.x
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- Publication type:
- Article
3
Mspl identifies a biallelic polymorphism in the promoter region of the α.
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- Clinical Genetics, 1997, v. 51, n. 2, p. 129, doi. 10.1111/j.1399-0004.1997.tb02436.x
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- Publication type:
- Article
4
Dandy-Walker malformation and postaxial Polydactyly: nosological comments.
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- Clinical Genetics, 1997, v. 51, n. 2, p. 139, doi. 10.1111/j.1399-0004.1997.tb02441.x
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- Publication type:
- Article
5
Microcephaly and intracranial calcification: two new cases.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 2, p. 142, doi. 10.1111/j.1399-0004.1997.tb02443.x
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- Publication type:
- Article
6
A new case of oculocerebral hypopigmentation syndrome (Cross syndrome) with additional findings.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 2, p. 118, doi. 10.1111/j.1399-0004.1997.tb02432.x
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- Publication type:
- Article
7
Detection of SRY in 45, X/47, XYY mosaicism leading to phenotypic female.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 2, p. 124, doi. 10.1111/j.1399-0004.1997.tb02434.x
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- Publication type:
- Article
8
Genetic epidemiology of Duchenne and Becker muscular dystrophy in Slovenia.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 2, p. 94, doi. 10.1111/j.1399-0004.1997.tb02427.x
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- Publication type:
- Article
9
SSCP variants within the α4 subunit of the neuronal nicotinic acetylcholine receptor gene.
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- Clinical Genetics, 1997, v. 51, n. 2, p. 135, doi. 10.1111/j.1399-0004.1997.tb02439.x
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- Publication type:
- Article
10
A highly polymorphic (CA) repeat sequence in the human lysyl oxidase-like gene.
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- Clinical Genetics, 1997, v. 51, n. 2, p. 131, doi. 10.1111/j.1399-0004.1997.tb02437.x
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- Publication type:
- Article
11
A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 2, p. 86, doi. 10.1111/j.1399-0004.1997.tb02425.x
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- Publication type:
- Article
12
Mutation of RET codon 768 is associated with the FMTC phenotype.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 2, p. 81, doi. 10.1111/j.1399-0004.1997.tb02424.x
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- Publication type:
- Article
13
A novel polymorphism (1121 C/T) in intron 3 of the human apolipoprotein A-l gene.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 2, p. 127, doi. 10.1111/j.1399-0004.1997.tb02435.x
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- Publication type:
- Article
14
Congenital cutis laxa and lysyl oxidase deficiency.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 2, p. 109, doi. 10.1111/j.1399-0004.1997.tb02430.x
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- Publication type:
- Article
15
Chromosome 21 and platelets: a gene dosage effect?
- Published in:
- Clinical Genetics, 1997, v. 51, n. 2, p. 140, doi. 10.1111/j.1399-0004.1997.tb02442.x
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- Publication type:
- Article
16
A tetranucleotide repeat polymorphism within the human elastin gene (ELNi1).
- Published in:
- Clinical Genetics, 1997, v. 51, n. 2, p. 133, doi. 10.1111/j.1399-0004.1997.tb02438.x
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- Publication type:
- Article
17
Prenatal diagnosis of a de novo trisomy 6q22.2→6qter and monosomy lpter→1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 2, p. 115, doi. 10.1111/j.1399-0004.1997.tb02431.x
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- Publication type:
- Article
18
Centromeric alphoid DNA heteromorphisms of chromosome 21 revealed by FISH-technique.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 2, p. 91, doi. 10.1111/j.1399-0004.1997.tb02426.x
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- Publication type:
- Article
19
Möbius-like syndrome associated with a 1;2 chromosome translocation.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 2, p. 122, doi. 10.1111/j.1399-0004.1997.tb02433.x
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- Publication type:
- Article
20
Condensed chromatin enhancement in the phytohemagglutinin-stimulated lymphocyte interphase nuclei of two xeroderma pigmentosum patients and artificial chromatin condensation of healthy cell nuclei by UV irradiation.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 2, p. 137, doi. 10.1111/j.1399-0004.1997.tb02440.x
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- Publication type:
- Article