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David Ros-Pardo

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Clinical Genetics|July 11, 2024

The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variantsFrancesca Furia, Amanda M Levy, Miel Theunis, et al.

HGG Advances|June 26, 2026

Expanding the ABCA2-associated neurodevelopmental phenotypeKaisa T Oja, Karit Reinson, Mihkel Ilisson, et al.

European Journal of Human Genetics : EJHG|May 23, 2025

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic lociMathis Hildonen, Andrea Ciolfi, Marco Ferilli, et al.

Clinical Genetics|May 26, 2022

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorderMaria B Christensen, Amanda M Levy, Nazanin A Mohammadi, et al.

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Search research articles

Showing results (11-20 of 14) with videos related to

Sort By:

Pageof 2

You have reached the last page of results.This site can display upto 14 results.

Clinical Genetics|July 11, 2024

The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variantsFrancesca Furia, Amanda M Levy, Miel Theunis, et al.

HGG Advances|June 26, 2026

Expanding the ABCA2-associated neurodevelopmental phenotypeKaisa T Oja, Karit Reinson, Mihkel Ilisson, et al.

European Journal of Human Genetics : EJHG|May 23, 2025

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic lociMathis Hildonen, Andrea Ciolfi, Marco Ferilli, et al.

Clinical Genetics|May 26, 2022

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorderMaria B Christensen, Amanda M Levy, Nazanin A Mohammadi, et al.

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