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Drivas, Theodore G
136  Ergebnisse:
Personensuche X
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1

Unraveling a history of overlap: A phenotypic comparison of..:

Crane, Haley M. ; Asher, Stephanie ; Conway, Laura..
American Journal of Medical Genetics Part A.  194 (2024)  7 - p. , 2024
Link: https://doi.org/10.1002/..
 
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2

Phenotypes of undiagnosed adults with actionable OTC and GL..:

Gold, Jessica I. ; Madhavan, Sarina ; Park, Joseph...
Human Genetics and Genomics Advances.  4 (2023)  4 - p. 100226 , 2023
Link: https://doi.org/10.1016/..
 
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3

Unmasking the challenges of Kabuki syndrome in adulthood: A..:

Priestley, Jessica R. C. ; Rippert, Alyssa L. ; Condit, Courtney...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  193 (2023)  2 - p. 128-138 , 2023
Link: https://doi.org/10.1002/..
 
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4

Microcystic lymphatic malformations in Turner syndrome are ..:

Nriagu, Bede N. ; Williams, Lydia S. ; Brewer, Niambi...
American Journal of Medical Genetics Part A.  194 (2023)  1 - p. 64-69 , 2023
Link: https://doi.org/10.1002/..
 
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5

Comparison of Transthoracic Contrast Echocardiography with ..:

Curnes, Nicole R. ; Hung, Matthew L. ; DePietro, Daniel M....
Journal of Vascular and Interventional Radiology.  34 (2023)  8 - p. 1435-1440 , 2023
Link: https://doi.org/10.1016/..
 
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6

Large-scale genomic analyses reveal insights into pleiotrop..:

Zhang, Xinyuan ; Lucas, Anastasia M. ; Veturi, Yogasudha...
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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7

The Penn Medicine BioBank: Towards a Genomics-Enabled Learn..:

Verma, Anurag ; Damrauer, Scott M. ; Naseer, Nawar...
Journal of Personalized Medicine.  12 (2022)  12 - p. 1974 , 2022
Link: https://doi.org/10.3390/..
 
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8

Multi-ancestry fine mapping implicates OAS1 splicing in ris..:

Huffman, Jennifer E. ; Butler-Laporte, Guillaume ; Khan, Atlas...
Nature Genetics.  54 (2022)  2 - p. 125-127 , 2022
Link: https://doi.org/10.1038/..
 
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9

Genotype-Phenotype Correlations in 208 Individuals with Cof..:

Vasko, Ashley ; Drivas, Theodore G. ; Schrier Vergano, Samantha A.
Genes.  12 (2021)  6 - p. 937 , 2021
Link: https://doi.org/10.3390/..
 
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10

eQTpLot: a user-friendly R package for the visualization of..:

Drivas, Theodore G. ; Lucas, Anastasia ; Ritchie, Marylyn D.
BioData Mining.  14 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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11

Exome-wide evaluation of rare coding variants using electro..:

Park, Joseph ; Lucas, Anastasia M. ; Zhang, Xinyuan...
Nature Medicine.  27 (2021)  1 - p. 66-72 , 2021
Link: https://doi.org/10.1038/..
 
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12

A second cohort of CHD3 patients expands the molecular mech..:

Drivas, Theodore G. ; Li, Dong ; Nair, Divya...
European Journal of Human Genetics.  28 (2020)  10 - p. 1422-1431 , 2020
Link: https://doi.org/10.1038/..
 
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13

The final demise of Rodriguez lethal acrofacial dysostosis:..:

Drivas, Theodore G. ; Taylor, Jesse A. ; Zackai, Elaine H.
American Journal of Medical Genetics Part A.  179 (2019)  6 - p. 1063-1068 , 2019
Link: https://doi.org/10.1002/..
 
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14

Identification of lysosomal diseases by expanded carrier sc..:

Drivas, Theodore G. ; Asher, Stephanie B. ; Bonanni, Maria.
Molecular Genetics and Metabolism.  126 (2019)  2 - p. S50 , 2019
Link: https://doi.org/10.1016/..
 
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15

Author Correction: An Autogenously Regulated Expression Sys..:

Sochor, Matthew A. ; Vasireddy, Vidyullatha ; Drivas, Theodore G....
Scientific Reports.  8 (2018)  1 - p. , 2018
Link: https://doi.org/10.1038/..
 
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