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Markello, Thomas
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1

P143: Clinical investigation of bleeding diatheses in patie..:

Song, Christopher ; Introne, Wendy ; O'Brien, Kevin...
Genetics in Medicine Open.  2 (2024)  - p. 101040 , 2024
Link: https://doi.org/10.1016/..
 
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2

A complete pedigree-based graph workflow for rare candidate..:

Markello, Charles ; Huang, Charles ; Rodriguez, Alex...
Genome Research.  , 2022
Link: https://doi.org/10.1101/..
 
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3

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovari..:

Foley, A. Reghan ; Zou, Yaqun ; Dunford, James E....
Annals of Neurology.  88 (2020)  2 - p. 332-347 , 2020
Link: https://doi.org/10.1002/..
 
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4

Early Onset Parkinson's Disease Caused by Complete Uniparen..:

Xiao, Changrui ; Markello, Thomas ; Groden, Catherine..
Neurology.  94 (2020)  15_supplement - p. , 2020
Link: https://doi.org/10.1212/..
 
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5

Deficiency in the endocytic adaptor proteins PHETA1/2 impai..:

Ates, Kristin M. ; Wang, Tong ; Moreland, Trevor...
Disease Models & Mechanisms.  , 2020
Link: https://doi.org/10.1242/..
 
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6

SAT-283 A Mutation In Ccdc53 Affects Pth1r Trafficking And ..:

Jee, Youn Hee ; Whalen, Philip ; Yue, Shanna...
Journal of the Endocrine Society.  3 (2019)  Supplement_1 - p. , 2019
Link: https://doi.org/10.1210/..
 
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7

Defining Disease, Diagnosis, and Translational Medicine wit..:

Gall, Timothy ; Valkanas, Elise ; Bello, Christofer...
Frontiers in Medicine.  4 (2017)  - p. , 2017
Link: https://doi.org/10.3389/..
 
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8

A novel AVPR2 splice site mutation leads to partial X-linke..:

Schernthaner-Reiter, Marie Helene ; Adams, David ; Trivellin, Giampaolo...
European Journal of Pediatrics.  175 (2016)  5 - p. 727-733 , 2016
Link: https://doi.org/10.1007/..
 
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9

York platelet syndrome is a CRAC channelopathy due to gain-..:

Markello, Thomas ; Chen, Dong ; Kwan, Justin Y....
Molecular Genetics and Metabolism.  114 (2015)  3 - p. 474-482 , 2015
Link: https://doi.org/10.1016/..
 
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10

GRIN2Amutation and early‐onset epileptic encephalopathy: pe..:

Pierson, Tyler Mark ; Yuan, Hongjie ; Marsh, Eric D....
Annals of Clinical and Translational Neurology.  1 (2014)  3 - p. 190-198 , 2014
Link: https://doi.org/10.1002/..
 
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11

The implications of familial incidental findings from exome..:

Lawrence, Lauren ; Sincan, Murat ; Markello, Thomas...
Genetics in Medicine.  16 (2014)  10 - p. 741-750 , 2014
Link: https://doi.org/10.1038/..
 
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12

Cultural differences define diagnosis and genomic medicine ..:

Duan, Xiaohong ; Markello, Thomas ; Adams, David...
Frontiers of Medicine.  7 (2013)  3 - p. 389-394 , 2013
Link: https://doi.org/10.1007/..
 
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13

Correction: Whole-Exome Sequencing Identifies Homozygous AF..:

Pierson, Tyler Mark ; Adams, David ; Bonn, Florian...
PLoS Genetics.  9 (2013)  2 - p. , 2013
Link: https://doi.org/10.1371/..
 
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14

Novel SNP array analysis and exome sequencing detect a homo..:

Pierson, Tyler Mark ; Markello, Thomas ; Accardi, John...
Neuromuscular Disorders.  23 (2013)  6 - p. 483-488 , 2013
Link: https://doi.org/10.1016/..
 
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15

Exome sequencing as a diagnostic tool in a case of undiagno..:

Pierson, Tyler Mark ; Adams, David A. ; Markello, Thomas...
Neurology.  79 (2012)  2 - p. 123-126 , 2012
Link: https://doi.org/10.1212/..
 
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