Cytogenetic microarrays in Manitoba patients with developmental delay.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Works matching IS 00099163 AND DT 2009 AND VI 75 AND IP 5
Results: 17
1
2
A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21.
- Published in:
- 2009
- By:
- Publication type:
- Letter
3
Factors that affect hearing level in individuals with the mitochondrial 1555A>G mutation.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 5, p. 480, doi. 10.1111/j.1399-0004.2008.01138.x
- By:
- Publication type:
- Article
4
A novel microdeletion at chromosome 2q31.1-31.2 in a three-generation family presenting duplication of great toes with clinodactyly.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 5, p. 449, doi. 10.1111/j.1399-0004.2008.01147.x
- By:
- Publication type:
- Article
5
Proven germline mosaicism in a father of two children with CHARGE syndrome.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 5, p. 473, doi. 10.1111/j.1399-0004.2009.01151.x
- By:
- Publication type:
- Article
6
The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 5, p. 440, doi. 10.1111/j.1399-0004.2009.01152.x
- By:
- Publication type:
- Article
7
Aberrant splicing due to a silent nucleotide change in CCM2 gene in a family with cerebral cavernous malformation.
- Published in:
- 2009
- By:
- Publication type:
- Letter
8
Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations.
- Published in:
- 2009
- By:
- Publication type:
- Letter
9
Glucocerebrosidase mutation H255Q appears to be exclusively in cis with D409H: structural implications.
- Published in:
- 2009
- By:
- Publication type:
- Letter
10
Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 5, p. 429, doi. 10.1111/j.1399-0004.2009.01182.x
- By:
- Publication type:
- Article
11
Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase ( OTC) gene.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 5, p. 457, doi. 10.1111/j.1399-0004.2009.01172.x
- By:
- Publication type:
- Article
12
Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 5, p. 465, doi. 10.1111/j.1399-0004.2009.01173.x
- By:
- Publication type:
- Article
13
Importance of gene–environment interactions in the etiology of selected birth defects.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 5, p. 409, doi. 10.1111/j.1399-0004.2009.01174.x
- By:
- Publication type:
- Article
14
An X-linked microcephaly syndrome caused by disruptions of CASK implicates the CASK-TBR1-RELN pathway in human brain development.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 5, p. 424, doi. 10.1111/j.1399-0004.2009.01186_1.x
- By:
- Publication type:
- Article
15
Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 5, p. 485, doi. 10.1111/j.1399-0004.2009.01184.x
- By:
- Publication type:
- Article
16
Copy number variation at 1q21.1 results in a spectrum of developmental abnormalities.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 5, p. 425, doi. 10.1111/j.1399-0004.2009.01186_2.x
- By:
- Publication type:
- Article
17
Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 5, p. 427, doi. 10.1111/j.1399-0004.2009.01186_3.x
- By:
- Publication type:
- Article