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3 articles related to "Pseudodominant Inheritance"

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Articles

Case Report

Published on 10 Dec 2024

Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series

in Genetics of Common and Rare Diseases

Kakha Bregvadze
Luka Abashishvili
Nana Nino Tatishvili
Teona Shatirishvili
Ana Bedoshvili
Gocha Chikvinidze
Arndt Rolfs
Volha Skrahina
Tinatin Tkemaladze

Frontiers in Genetics

doi 10.3389/fgene.2024.1502444

1,904 views
1 citation

Brief Research Report

Published on 25 Jun 2021

Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics

in Human and Medical Genomics

Jonathan de Fallois
Ria Schönauer
Johannes Münch
Mato Nagel
Bernt Popp
Jan Halbritter

Frontiers in Genetics

doi 10.3389/fgene.2021.682565

4,795 views
4 citations

Original Research

Published on 05 Feb 2021

Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies

in Molecular and Cellular Pathology

Imen Habibi
Yosra Falfoul
Hoai Viet Tran
Khaled El Matri
Ahmed Chebil
Leila El Matri
Daniel F. Schorderet

Frontiers in Cell and Developmental Biology

doi 10.3389/fcell.2021.625560

5,057 views
5 citations