Suchergebnisse - "Wu-Chou, Yah-Huei"

PubPharm (108)

1

Codingde novomutations identified by WGS reveal novel orofacial cleft genes

enthalten in: bioRxiv.org | 2023

von Bishop, M. | Perez, K. | Sun, M. | +24

2

PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability

enthalten in: Brain : a journal of neurology | 2023

von Fevga, C. | Tesson, C. | Carreras Mascaro, A. | +118

CommentIn: Brain. 2023 Dec 1;146(12):e125-e127. - PMID 37448355

3

Somatic Genomic Defects And Tumor Progression In NF1-associated Tumors

enthalten in: ResearchSquare.com | 2022

von Wu-Chou, Y. | Hung, T. | Lin, Y. | +5

4

NOTCH1 mutations as prognostic marker in oral squamous cell carcinoma

enthalten in: Pathology, research and practice | 2021

von Wu-Chou, Y. | Hsieh, C. | Liao, C. | +3

5

EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

enthalten in: Annals of neurology | 2021

von Kuipers, D. | Mandemakers, W. | Lu, C. | +31

CommentIn: Ann Neurol. 2021 Jun;89(6):1257-1258. - PMID 33866603

6

Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios

enthalten in: American journal of human genetics | 2020

von Bishop, M. | Diaz Perez, K. | Sun, M. | +24

7

The SNP rs560426 Within ABCA4-ARHGAP29 Locus and the Risk of Nonsyndromic Oral Clefts

enthalten in: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association | 2020

von Wu-Chou, Y. | Chen, K. | Lu, Y. | +3

8

Targeted Next Generation Sequencing for Genetic Mutations of Dilated Cardiomyopathy

enthalten in: Acta Cardiologica Sinica | 2019

von Yeh, J. | Liu, W. | Wang, C. | +10

9

Association Studies Between Regulatory Regions of IRF6/TP63 Genes and Nonsyndromic Oral Clefts

enthalten in: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association | 2019

von Wu-Chou, Y. | Lu, Y. | Chen, K. | +3

10

Genetic diagnosis of neurofibromatosis type 1 : targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis

enthalten in: Journal of biomedical science | 2018

von Wu-Chou, Y. | Hung, T. | Lin, Y. | +7

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