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Jin, Sheng Chih
7619  Ergebnisse:
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1

Variants in autophagy genes MTMR12 and FAM134A are putative..:

Tafaleng, Edgar N. ; Li, Jie ; Wang, Yan...
Hepatology.  , 2024
Link: https://doi.org/10.1097/..
 
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2

Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mut..:

Mishra-Gorur, Ketu ; Barak, Tanyeri ; Kaulen, Leon D....
Proceedings of the National Academy of Sciences.  121 (2024)  12 - p. , 2024
Link: https://doi.org/10.1073/..
 
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3

De Novo Variants in RAB11B Cause Various Degrees of Global ..:

Ahmad, Natalie ; Fazeli, Walid ; Schließke, Sophia...
Pediatric Neurology.  148 (2023)  - p. 164-171 , 2023
Link: https://doi.org/10.1016/..
 
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4

Pleiotropic role of TRAF7 in skull-base meningiomas and con..:

Mishra-Gorur, Ketu ; Barak, Tanyeri ; Kaulen, Leon D....
Proceedings of the National Academy of Sciences.  120 (2023)  16 - p. , 2023
Link: https://doi.org/10.1073/..
 
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5

A novel SMARCC1 BAFopathy implicates neural progenitor epig..:

Singh, Amrita K ; Allington, Garrett ; Viviano, Stephen...
Brain.  147 (2023)  4 - p. 1553-1570 , 2023
Link: https://doi.org/10.1093/..
 
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6

De novo variants implicate chromatin modification, transcri..:

Timberlake, Andrew T. ; McGee, Stephen ; Allington, Garrett...
The American Journal of Human Genetics.  110 (2023)  5 - p. 846-862 , 2023
Link: https://doi.org/10.1016/..
 
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7

Human genetics and molecular genomics of Chiari malformatio..:

Mekbib, Kedous Y. ; Muñoz, William ; Allington, Garrett...
Trends in Molecular Medicine.  29 (2023)  12 - p. 1059-1075 , 2023
Link: https://doi.org/10.1016/..
 
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8

Rare variants in ANO1, encoding a calcium-activated chlorid..:

Pinard, Amélie ; Ye, Wenlei ; Fraser, Stuart M...
Brain.  146 (2023)  9 - p. 3616-3623 , 2023
Link: https://doi.org/10.1093/..
 
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9

TRAPPC6B biallelic variants cause a neurodevelopmental diso..:

Almousa, Hashem ; Lewis, Sara A ; Bakhtiari, Somayeh...
Brain.  147 (2023)  1 - p. 311-324 , 2023
Link: https://doi.org/10.1093/..
 
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10

Quantifying concordant genetic effects of de novo mutations..:

Guo, Hanmin ; Hou, Lin ; Shi, Yu...
eLife.  11 (2022)  - p. , 2022
Link: https://doi.org/10.7554/..
 
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11

Sequencing of a Chinese tetralogy of Fallot cohort reveals ..:

Tang, Clara Sze Man ; Mononen, Mimmi ; Lam, Wai-Yee...
JCI Insight.  7 (2022)  2 - p. , 2022
Link: https://doi.org/10.1172/..
 
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12

Brain ventricles as windows into brain development and dise..:

Duy, Phan Q. ; Rakic, Pasko ; Alper, Seth L....
Neuron.  110 (2022)  1 - p. 12-15 , 2022
Link: https://doi.org/10.1016/..
 
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13

Familial and syndromic forms of arachnoid cyst implicate ge..:

Qureshi, Hanya M ; Mekbib, Kedous Y ; Allington, Garrett...
Cerebral Cortex.  33 (2022)  6 - p. 3012-3025 , 2022
Link: https://doi.org/10.1093/..
 
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14

A neural stem cell paradigm of pediatric hydrocephalus:

Duy, Phan Q ; Rakic, Pasko ; Alper, Seth L...
Cerebral Cortex.  33 (2022)  8 - p. 4262-4279 , 2022
Link: https://doi.org/10.1093/..
 
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15

Whole-exome sequencing reveals damaging gene variants assoc..:

Dong, Weilai ; Wong, Karen H.Y. ; Liu, Youbin...
Journal of Lipid Research.  63 (2022)  6 - p. 100209 , 2022
Link: https://doi.org/10.1016/..
 
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