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More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
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- Journal Article
- A1
- open access
Follow-up in the field of reproductive medicine : an ethical exploration
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More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
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- Journal Article
- A1
- open access
The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation : efficacy and safety
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The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP)
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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
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Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the Automated Laser Fluorescence DNA sequencer