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Dai, Hongzheng
180  results:
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1

P050: Biallelic variants in POLG2 provides a rare molecular..:

Rossi, Vittoria ; Brooks, Dan ; Dai, Hongzheng...
Genetics in Medicine Open.  2 (2024)  - p. 100927 , 2024
Link: https://doi.org/10.1016/..
 
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2

Exploring the complexity of systemic sclerosis etiology by ..:

Dai, Hongzheng ; Ketkar, Shamika ; Tan, Taotao...
Human Molecular Genetics.  , 2024
Link: https://doi.org/10.1093/..
 
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3

P297: More than an extra chromosome: Unexpected multiple di..:

Vossaert, Liesbeth ; Owen, Nichole ; Dai, Hongzheng...
Genetics in Medicine Open.  2 (2024)  - p. 101193 , 2024
Link: https://doi.org/10.1016/..
 
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P682: Phenotype expansion or multilocus variants? Additiona..:

Saeidian, Amir Hossein ; Vossaert, Liesbeth ; Mizerik, Elizabeth...
Genetics in Medicine Open.  2 (2024)  - p. 101586 , 2024
Link: https://doi.org/10.1016/..
 
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P513: Project GIVE: Expanding genetic testing to underserve..:

Vuocolo, Blake ; Sierra, Roberta ; Brooks, Dan...
Genetics in Medicine Open.  2 (2024)  - p. 101412 , 2024
Link: https://doi.org/10.1016/..
 
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6

Loss of the endoplasmic reticulum protein Tmem208 affects c..:

Dutta, Debdeep ; Kanca, Oguz ; Shridharan, Rishi V....
Proceedings of the National Academy of Sciences.  121 (2024)  9 - p. , 2024
Link: https://doi.org/10.1073/..
 
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P722: Low-level large deletions in mitochondria genomes: A ..:

Yang, Jun ; Chen, Tiansheng ; Kao, Eric...
Genetics in Medicine Open.  2 (2024)  - p. 101626 , 2024
Link: https://doi.org/10.1016/..
 
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Novel mutation leading to splice donor loss in a conserved ..:

Chen, Jianhai ; Jia, Yangying ; Zhong, Jie...
Journal of Medical Genetics.  61 (2024)  8 - p. 741-749 , 2024
Link: https://doi.org/10.1136/..
 
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P750: Clinical validation of transcriptome analysis for the..:

Macakova, Kristina ; Sinson, Jefferson ; Zhao, Sen...
Genetics in Medicine Open.  2 (2024)  - p. 101654 , 2024
Link: https://doi.org/10.1016/..
 
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10

P668: PMP22 single exon deletion in a proband with hematolo..:

Schulze, Katharina ; Kin Chau, Matthew Hoi ; Dai, Hongzheng...
Genetics in Medicine Open.  2 (2024)  - p. 101573 , 2024
Link: https://doi.org/10.1016/..
 
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11

P170: Rapid genome provides unexpected, highly actionable a..:

Geddes, Gabrielle ; Graham, Brett ; Lutfi, Riad...
Genetics in Medicine Open.  1 (2023)  1 - p. 100199 , 2023
Link: https://doi.org/10.1016/..
 
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12

KCNA1 gain‐of‐function epileptic encephalopathy treated wit..:

Müller, Peter ; Takacs, Danielle S. ; Hedrich, Ulrike B. S....
Annals of Clinical and Translational Neurology.  10 (2023)  4 - p. 656-663 , 2023
Link: https://doi.org/10.1002/..
 
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P374: Project GIVE: Expanding genetic testing to underserve..:

Brooks, Dan ; Vuocolo, Blake ; Sierra, Roberta...
Genetics in Medicine Open.  1 (2023)  1 - p. 100410 , 2023
Link: https://doi.org/10.1016/..
 
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14

De novo missense variants in ZBTB47 are associated with dev..:

Ward, Scott K. ; Wadley, Alexandrea ; Tsai, Chun‐hui (Anne)...
American Journal of Medical Genetics Part A.  194 (2023)  1 - p. 17-30 , 2023
Link: https://doi.org/10.1002/..
 
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Disease modeling of ADAMTS9-related nephropathy using kidne..:

Yu, Seyoung ; Choi, Yo Jun ; Rim, John Hoon...
Frontiers in Medicine.  10 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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