VIP gene variants related to idiopathic pulmonary arterial hypertension in Chinese population.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 6, p. 544, doi. 10.1111/j.1399-0004.2009.01196.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2009 AND VI 75 AND IP 6
Results: 18
1
2
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
- Published in:
- 2009
- By:
- Publication type:
- Letter
3
Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 6, p. 550, doi. 10.1111/j.1399-0004.2009.01158.x
- By:
- Publication type:
- Article
4
Silencing is Not-So Golden: A New Model for Inheritance of Lynch Syndrome.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 6, p. 522, doi. 10.1111/j.1399-0004.2009.01199_1.x
- By:
- Publication type:
- Article
5
Early onset of renal cancer in a family with Birt–Hogg–Dubé syndrome.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 6, p. 537, doi. 10.1111/j.1399-0004.2009.01159.x
- By:
- Publication type:
- Article
6
Is early onset breast cancer with no family history a good criterion for testing BRCA1 and BRCA2 genes? A small population-based study.
- Published in:
- 2009
- By:
- Publication type:
- Letter
7
SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 6, p. 568, doi. 10.1111/j.1399-0004.2009.01149.x
- By:
- Publication type:
- Article
8
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.
- Published in:
- 2009
- By:
- Publication type:
- Letter
9
Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene.
- Published in:
- 2009
- By:
- Publication type:
- Letter
10
Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 6, p. 527, doi. 10.1111/j.1399-0004.2009.01176.x
- By:
- Publication type:
- Article
11
Novel and recurrent germline LEMD3 mutations causing Buschke–Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 6, p. 556, doi. 10.1111/j.1399-0004.2009.01177.x
- By:
- Publication type:
- Article
12
Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia.
- Published in:
- 2009
- By:
- Publication type:
- Letter
13
Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants.
- Published in:
- 2009
- By:
- Publication type:
- Letter
14
A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 6, p. 562, doi. 10.1111/j.1399-0004.2009.01183.x
- By:
- Publication type:
- Article
15
Inverted duplications deletions: underdiagnosed rearrangements??
- Published in:
- Clinical Genetics, 2009, v. 75, n. 6, p. 505, doi. 10.1111/j.1399-0004.2009.01187.x
- By:
- Publication type:
- Article
16
Valuing the benefit of diagnostic testing for genetic causes of idiopathic developmental disability: willingness to pay from families of affected children.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 6, p. 514, doi. 10.1111/j.1399-0004.2009.01193.x
- By:
- Publication type:
- Article
17
‘ERAD'icating Mislocalized Proteins in an Acromesomelic Dwarfism Disorder.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 6, p. 523, doi. 10.1111/j.1399-0004.2009.01199_2.x
- By:
- Publication type:
- Article
18
A Controlled SCID: Bringing Reticular Dysgenesis to a Halt.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 6, p. 525, doi. 10.1111/j.1399-0004.2009.01199_3.x
- By:
- Publication type:
- Article