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European Journal of Human Genetics (3)
Nature Cell Biology (1)

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Showing 1–4 of 4 results

Advanced filters: Author: Danai Veltra Clear advanced filters

A programmed decline in ribosome levels governs human early neurodevelopment

Ni, Wei, Vona and colleagues use human brain organoids to dissect patient AIRIM variants associated with neurodevelopmental features. A subset of variants impaired ribosome production and protein synthesis, and delayed radial glial cell specification.

Chunyang Ni
Yudong Wei
Michael Buszczak
ResearchOpen Access04 Aug 2025
Nature Cell Biology

Volume: 27, P: 1240-1255
Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies

Nikolaos M. Marinakis
Faidon-Nikolaos Tilemis
Periklis Makrythanasis
Research02 Nov 2024
European Journal of Human Genetics

Volume: 33, P: 65-71
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Dana E. Layo-Carris
Emily E. Lubin
Laura M. Bryant
Amendments and CorrectionsOpen Access26 Jul 2024
European Journal of Human Genetics

Volume: 32, P: 1032
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Dana E. Layo-Carris
Emily E. Lubin
Laura M. Bryant
ResearchOpen Access27 Apr 2024
European Journal of Human Genetics

Volume: 32, P: 928-937