List of works - Alban Ziegler - Paulina

List of works by Alban Ziegler

A snapshot of some pLI score pitfalls

scientific article published on 29 April 2019

Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth

scientific article published on 05 July 2020

Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability

scientific article published on 17 July 2019

Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO

scientific article published on 27 December 2020

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

scientific article published on 07 August 2019

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