Suchergebnisse - "Lin, Sheng-Jia"

PubPharm (49)

1

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

enthalten in: Brain : a journal of neurology | 2024

von Kaiyrzhanov, R. | Rad, A. | Lin, S. | +86

2

Naa80 is required for actin N-terminal acetylation and normal hearing in zebrafish

enthalten in: bioRxiv.org | 2024

von Ree, R. | Lin, S. | Sti Dahl, L. | +4

3

Loss of symmetric cell division of apical neural progenitors drivesDENND5A-related developmental and epileptic encephalopathy

enthalten in: bioRxiv.org | 2024

von Banks, E. | Francis, V. | Lin, S. | +81

4

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

enthalten in: medRxiv : the preprint server for health sciences | 2024

von Banks, E. | Francis, V. | Lin, S. | +82

5

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

enthalten in: Genome medicine | 2023

von Lin, S. | Vona, B. | Lau, T. | +34

6

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

enthalten in: Genome medicine | 2023

von Lin, S. | Vona, B. | Lau, T. | +34

7

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Accogli, A. | Lin, S. | Severino, M. | +56

8

Biallelic mutation ofCLRN2causes non-syndromic hearing loss in humans

enthalten in: bioRxiv.org | 2023

von Vona, B. | Mazaheri, N. | Lin, S. | +21

9

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

enthalten in: HGG advances | 2023

von Jackson, A. | Lin, S. | Jones, E. | +120

10

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

enthalten in: Human mutation | 2022

von Lin, S. | Vona, B. | Porter, H. | +22

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