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    • Guidelines & consensus (WG11)
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Home > Our Research Activities > List Of Publications > The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.

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Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome
Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications
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