Incidence of Hunter's syndrome

Towards characterization of photo-excited electron transfer and catalysis in natural and artificial systems using XFELs.

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Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology·2015

Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations.

Prenatal diagnosis·2003

Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.

British journal of cancer·2003

Coffin-Lowry syndrome: clinical and molecular features.

Journal of medical genetics·2002

Developing a quality scoring system for epidemiological surveys of genetic disorders.

Clinical genetics·2002

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.

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TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing.

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The Russian FSHD registry: a first look at the cohort.

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Nutricion hospitalaria·2026

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Research on aging·2026

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Journal of epidemiology·2026

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Towards characterization of photo-excited electron transfer and catalysis in natural and artificial systems using XFELs.

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