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Genetic Disease

Spinocerebellar Ataxia type 2 – background of the disease (research) and potential treatments

Due to a family in which 3 children suffer from SCA2, I researched the genetic background behind this hereditary disease and found potential therapeutic...

Congenital Chloride Diarrhea

Research into homozygous genetic diseases with severe diarrhea brought to light a study in which the "phenotype" of the disease (= the symptoms) was...

Angelman Syndrome – Pubmed Research for this Genetic Disease

A mother asked if I had any ideas on how to help her child with Angelman syndrome I have summarized my research here what is Angelman...

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