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- 2016
-
Mark
Landscape of somatic mutations in 560 breast cancer whole-genome sequences
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- Contribution to journal › Article
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Mark
The genetic architecture of type 2 diabetes
(
- Contribution to journal › Article
- 2014
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Mark
A mitochondrial implication in a Tunisian patient with Friedreich's ataxia-like
(
- Contribution to journal › Article
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Mark
A novel MT-CO2 m.8249G>A pathogenic variation and the MT-TW m.5521G>A mutation in patients with mitochondrial myopathy
(
- Contribution to journal › Article
- 2012
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Mark
A novel m.12908T>a mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease
(
- Contribution to journal › Article
- 2011
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Mark
A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss
(
- Contribution to journal › Article
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Mark
Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene
(
- Contribution to journal › Article
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Mark
Clinical effect of point mutations in myelodysplastic syndromes
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- Contribution to journal › Article
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Mark
Molecular alterations associated with liver metastases development in colorectal cancer patients
(
- Contribution to journal › Article
- 2009
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Mark
Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome
(
- Contribution to journal › Article
- 2007
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Mark
CDG-Id in two siblings with partially different phenotypes
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- Contribution to journal › Article
- 2005
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Mark
PTPN11 mutations play a minor role in isolated congenital heart disease
(
- Contribution to journal › Article
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Mark
Human neuropeptide Y signal peptide gain-of-function polymorphism is associated with increased body mass index : possible mode of function
(
- Contribution to journal › Article
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Mark
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient
(
- Contribution to journal › Article
- 2004
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Mark
One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations : results of a prospective study in Southern Sweden
(
- Contribution to journal › Article
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Mark
Susceptibility to Paget's disease of bone is influenced by a common polymorphic variant of osteoprotegerin
(
- Contribution to journal › Article
- 2002
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Mark
Molecular genetic characterization of the EWS/ATF1 fusion gene in clear cell sarcoma of tendons and aponeuroses.
(
- Contribution to journal › Article
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Mark
Cytogenetic aberrations and heterogeneity of mutations in repeat-containing genes in a colon carcinoma from a patient with hereditary nonpolyposis colorectal cancer.
(
- Contribution to journal › Article
- 2001
-
Mark
Predictive genetic screening and clinical findings in multiple endocrine neoplasia type I families
(
- Contribution to journal › Article
- 1999
-
Mark
hMLH1, hMSH2 and hMSH6 mutations in hereditary non-polyposis colorectal cancer families from southern Sweden
(
- Contribution to journal › Article