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Walz, Katherina
164  Ergebnisse:
Personensuche X
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1

Hearing Loss: Genetic Testing, Current Advances and the Sit..:

De Rosa, Maria Agustina ; Bernardi, Maria T. ; Kleppe, Soledad.
Genes.  15 (2024)  2 - p. 178 , 2024
Link: https://doi.org/10.3390/..
 
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2

ADAMTSL2 mutations determine the phenotypic severity in Gel..:

Camarena, Vladimir ; Williams, Monique M. ; Morales, Alejo A....
JCI Insight.  , 2024
Link: https://doi.org/10.1172/..
 
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3

Genetic heterogeneity in hereditary hearing loss: Potential..:

Ramzan, Memoona ; Zafeer, Mohammad Faraz ; Abad, Clemer...
European Journal of Human Genetics.  32 (2024)  6 - p. 639-646 , 2024
Link: https://doi.org/10.1038/..
 
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4

Gatad2b, associated with the neurodevelopmental syndrome GA..:

Abad, Clemer ; Robayo, Maria C. ; Muñiz-Moreno, Maria del Mar...
Translational Psychiatry.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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5

P136: Functional studies in ADAMTSL2-related geleophysic dy..:

Camarena, Vladimir ; Morales, Alejo ; Williams, Monique...
Genetics in Medicine Open.  1 (2023)  1 - p. 100165 , 2023
Link: https://doi.org/10.1016/..
 
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6

Mutations inMINAR2encoding membrane integral NOTCH2-associa..:

Bademci, Guney ; Lachgar-Ruiz, María ; Deokar, Mangesh...
Proceedings of the National Academy of Sciences.  119 (2022)  26 - p. , 2022
Link: https://doi.org/10.1073/..
 
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7

Generation and characterization of a P2rx2 V60L mouse model..:

Chen, Xiaoya ; Abad, Clemer ; Chen, Zheng-yi...
Human Molecular Genetics.  30 (2021)  11 - p. 985-995 , 2021
Link: https://doi.org/10.1093/..
 
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8

Transdisciplinary Perspectives on Precision Medicine:

Myers, Hector F. ; Fair, Alecia M. ; Villalta, Fernando...
Health Equity.  5 (2021)  1 - p. 288-298 , 2021
Link: https://doi.org/10.1089/..
 
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9

Bromodomain Protein BRD4 Is Essential for Hair Cell Functio..:

Kannan-Sundhari, Abhiraami ; Abad, Clemer ; Maloof, Marie E....
Frontiers in Cell and Developmental Biology.  8 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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10

Models to Understand Human Genomics, Final Considerations:

, In: Cellular and Animal Models in Human Genomics Research,
Walz, Katherina ; Young, Juan I. - p. 191-197 , 2019
Link: https://doi.org/10.1016/..
 
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11

Cellular and animal models in human genomics research 

Translational and applied genomics
Walz, Katherina ; Young, Juan I , 2019
Link: https://www.sciencedirec..
 
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12

Introduction to Human Genetics:

, In: Cellular and Animal Models in Human Genomics Research,
Posey, Jennifer E. ; Walz, Katherina - p. 1-17 , 2019
Link: https://doi.org/10.1016/..
 
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13

Dysfunction ofGRAP, encoding the GRB2-related adaptor prote..:

Li, Chong ; Bademci, Guney ; Subasioglu, Asli...
Proceedings of the National Academy of Sciences.  116 (2019)  4 - p. 1347-1352 , 2019
Link: https://doi.org/10.1073/..
 
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14

Dysfunction of GRAP, encoding the GRB2-related adaptor prot..:

Li, Chong ; Bademci, Guney ; Subasioglu, Asli...
Proceedings of the National Academy of Sciences of the United States of America.  116 (2019)  4 - p. 1347-1352 , 2019
Link: https://www.jstor.org/st..
 
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15

List of Contributors:

, In: Cellular and Animal Models in Human Genomics Research,
Badano, Jose L. ; Canales, Cesar P. ; Carmona-Mora, Paulina... - p. xiii-xiv , 2019
Link: https://doi.org/10.1016/..
 
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