Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 3, p. 267, doi. 10.1111/j.1399-0004.2008.01023.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2008 AND VI 74 AND IP 3
Results: 16
1
2
Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 3, p. 233, doi. 10.1111/j.1399-0004.2008.01035.x
- By:
- Publication type:
- Article
3
Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson–Fabry disease: testing the effects with the Mainz Severity Score Index.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 3, p. 260, doi. 10.1111/j.1399-0004.2008.01012.x
- By:
- Publication type:
- Article
4
A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot–Marie–Tooth disease in an Amish family.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 3, p. 274, doi. 10.1111/j.1399-0004.2008.01018.x
- By:
- Publication type:
- Article
5
Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 3, p. 243, doi. 10.1111/j.1399-0004.2008.01021.x
- By:
- Publication type:
- Article
6
Phenotypic discordance in a pair of monozygotic twins with Huntington’s disease.
- Published in:
- 2008
- By:
- Publication type:
- Letter
7
Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation – a family study.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 3, p. 279, doi. 10.1111/j.1399-0004.2008.01022.x
- By:
- Publication type:
- Article
8
Seckel syndrome: when developmental pathways determining brain and body size go wrong.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 3, p. 211, doi. 10.1111/j.1399-0004.2008.01065_3.x
- By:
- Publication type:
- Article
9
X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 3, p. 252, doi. 10.1111/j.1399-0004.2008.01037.x
- By:
- Publication type:
- Article
10
The role of evidence-based medicine and clinical trials in rare genetic disorders.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 3, p. 197, doi. 10.1111/j.1399-0004.2008.01041.x
- By:
- Publication type:
- Article
11
Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart’s hydrops fetalis.
- Published in:
- 2008
- By:
- Publication type:
- Letter
12
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 3, p. 223, doi. 10.1111/j.1399-0004.2008.01053.x
- By:
- Publication type:
- Article
13
CDKL5 disruption by t(X;18) in a girl with West syndrome.
- Published in:
- 2008
- By:
- Publication type:
- Letter
14
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 3, p. 213, doi. 10.1111/j.1399-0004.2008.01054.x
- By:
- Publication type:
- Article
15
Hope for treatment of nephronophthisis and related ciliopathies.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 3, p. 208, doi. 10.1111/j.1399-0004.2008.01065_1.x
- By:
- Publication type:
- Article
16
A new STAR on the horizon.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 3, p. 209, doi. 10.1111/j.1399-0004.2008.01065_2.x
- By:
- Publication type:
- Article