Developmental Biology: Frontiers for Clinical Genetics: Limb development: molecular dysmorphology is at hand!
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 337, doi. 10.1111/j.1399-0004.1998.tb02744.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1998 AND VI 53 AND IP 5
Results: 19
1
2
Partners with reciprocal translocations: genetic counseling for the 'double translocation'.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 403, doi. 10.1111/j.1399-0004.1998.tb02754.x
- By:
- Publication type:
- Article
3
A 'de novo' point mutation of the low-density lipoprotein receptor gene in an Italian subject with primary hypercholesterolemia.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 391, doi. 10.1111/j.1399-0004.1998.tb02752.x
- By:
- Publication type:
- Article
4
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 362, doi. 10.1111/j.1399-0004.1998.tb02746.x
- By:
- Publication type:
- Article
5
Short polyalanine expansion: a new class of triplet repeat disorder.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 333, doi. 10.1111/j.1399-0004.1998.tb02742.x
- Publication type:
- Article
6
Neuronal nitric oxide synthase, nNOS, is not linked to infantile hypertrophic pyloric stenosis in three families.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 421, doi. 10.1111/j.1399-0004.1998.tb02758.x
- By:
- Publication type:
- Article
7
Mild cystic fibrosis mutations in Southern Sweden with special reference to S549I and T338I.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 383, doi. 10.1111/j.1399-0004.1998.tb02750.x
- By:
- Publication type:
- Article
8
Applicability of LDLR flanking microsatellite polymorphisms for prenatal diagnosis of homozygous state for familial hypercholesterolemia.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 375, doi. 10.1111/j.1399-0004.1998.tb02748.x
- By:
- Publication type:
- Article
9
A new kind of mutation: dinucleotide deletions in Alzheimer's disease transcripts.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 331, doi. 10.1111/j.1399-0004.1998.tb02741.x
- Publication type:
- Article
10
Clinical, biochemical and molecular findings in a two-generation Morquio A family.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 369, doi. 10.1111/j.1399-0004.1998.tb02747.x
- By:
- Publication type:
- Article
11
Apolipoprotein E genotypes in offspring with a positive and negative family history of premature myocardial infarction.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 387, doi. 10.1111/j.1399-0004.1998.tb02751.x
- By:
- Publication type:
- Article
12
Noonan syndrome associated with central giant cell granuloma.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 411, doi. 10.1111/j.1399-0004.1998.tb02756.x
- By:
- Publication type:
- Article
13
Deletion in chromosome region 22q11 in a child with CHARGE association.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 408, doi. 10.1111/j.1399-0004.1998.tb02755.x
- By:
- Publication type:
- Article
14
Extending a hand to GLI3: functionally different GLI3 mutations in postaxial polydactyly, Greig's cephalopolysyndactyly syndrome and Pallister-Hall syndrome.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 334, doi. 10.1111/j.1399-0004.1998.tb02743.x
- Publication type:
- Article
15
Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal α-glucosidase gene.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 379, doi. 10.1111/j.1399-0004.1998.tb02749.x
- By:
- Publication type:
- Article
16
Jumping translocation with partial duplications and triplications of chromosomes 7 and 15.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 415, doi. 10.1111/j.1399-0004.1998.tb02757.x
- By:
- Publication type:
- Article
17
Internet databases for clinical geneticists - an overview.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 323, doi. 10.1111/j.1399-0004.1998.tb02740.x
- By:
- Publication type:
- Article
18
Genotyping of the polymorphic N-acetyltransferase (NAT2) and loss of heterozygosity in bladder cancer patients.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 396, doi. 10.1111/j.1399-0004.1998.tb02753.x
- By:
- Publication type:
- Article
19
Murine MPS I: insights into the pathogenesis of Hurler syndrome.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 349, doi. 10.1111/j.1399-0004.1998.tb02745.x
- By:
- Publication type:
- Article