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Martinez-Agosto, Julian
214  Ergebnisse:
Personensuche X
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1

P428: De novo truncating variants in ZNF865: A putative cau..:

Bradbrook, Sam ; Graham, Gail ; Carter, Melissa...
Genetics in Medicine Open.  2 (2024)  - p. 101322 , 2024
Link: https://doi.org/10.1016/..
 
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2

P451: Digenic inheritance of pathogenic variants in DICER1 ..:

Gonullu-Rotman, Damla ; Martinez-Agosto, Julian ; Abdul-Rahman, Omar
Genetics in Medicine Open.  2 (2024)  - p. 101345 , 2024
Link: https://doi.org/10.1016/..
 
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Characterizing dermatologic findings among patients with PT..:

Morgan, Frederick C. ; Yehia, Lamis ; McDonald, Christine...
Journal of the American Academy of Dermatology.  89 (2023)  1 - p. 90-98 , 2023
Link: https://doi.org/10.1016/..
 
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Ethical challenges in autism genomics: Recommendations for ..:

Natri, Heini M. ; Chapman, Carolyn R. ; Heraty, Síofra...
European Journal of Medical Genetics.  66 (2023)  9 - p. 104810 , 2023
Link: https://doi.org/10.1016/..
 
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5

5.26 Phenotypic Characterization of Patients with Genetic A..:

Wong, Nicole R. ; Klomhaus, Alexandra M. ; Adams, David J....
Journal of the American Academy of Child & Adolescent Psychiatry.  62 (2023)  10 - p. S267 , 2023
Link: https://doi.org/10.1016/..
 
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O34: Application of long-read sequencing and telomere-to-te..:

Quintero-Rivera, Fabiola ; Mostovoy, Yulia ; Boone, Philip...
Genetics in Medicine Open.  1 (2023)  1 - p. 100460 , 2023
Link: https://doi.org/10.1016/..
 
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7

Characterization of spastic paraplegia in a family with a n..:

Ringman, John M ; Dorrani, Naghmeh ; Fernández, Sara Gutiérrez...
Brain Communications.  5 (2023)  2 - p. , 2023
Link: https://doi.org/10.1093/..
 
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5.21 Clinical Predictors of Intensive Psychiatric Service U..:

Adams, David J. ; Klomhaus, Alexandra M. ; Wong, Nicole R....
Journal of the American Academy of Child & Adolescent Psychiatry.  62 (2023)  10 - p. S265 , 2023
Link: https://doi.org/10.1016/..
 
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9

Elucidating the clinical and molecular spectrum of SMARCC2-..:

Bosch, Elisabeth ; Popp, Bernt ; Güse, Esther...
Genetics in Medicine.  25 (2023)  11 - p. 100950 , 2023
Link: https://doi.org/10.1016/..
 
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Outcomes of two different unbalanced segregations from a ma..:

Fan, Judith ; Senaratne, T. Niroshini ; Liu, Jason Y....
BMC Medical Genomics.  16 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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Longitudinal neurobehavioral profiles in children and young..:

Busch, Robyn M. ; Frazier II, Thomas W. ; Sonneborn, Claire...
Journal of Neurodevelopmental Disorders.  15 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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12

Epigenetic age provides insight into tissue origin in endom..:

Leap, Katie ; Yotova, Iveta ; Horvath, Steve.
Scientific Reports.  12 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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A randomized controlled trial of everolimus for neurocognit..:

Srivastava, Siddharth ; Jo, Booil ; Zhang, Bo...
Human Molecular Genetics.  31 (2022)  20 - p. 3393-3404 , 2022
Link: https://doi.org/10.1093/..
 
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Variant-specific changes in RAC3 function disrupt corticoge..:

Scala, Marcello ; Nishikawa, Masashi ; Ito, Hidenori...
Brain.  145 (2022)  9 - p. 3308-3327 , 2022
Link: https://doi.org/10.1093/..
 
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15

Bi-allelic LETM1 variants perturb mitochondrial ion homeost..:

Kaiyrzhanov, Rauan ; Mohammed, Sami E.M. ; Maroofian, Reza...
The American Journal of Human Genetics.  109 (2022)  9 - p. 1692-1712 , 2022
Link: https://doi.org/10.1016/..
 
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