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Scocchia, Alicia
31  results:
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1

P554: A case series of 17 patients with VEXAS syndrome due ..:

Scocchia, Alicia ; Sluyters, Allison ; Andreevskaya, Margarita...
Genetics in Medicine Open.  1 (2023)  1 - p. 100601 , 2023
Link: https://doi.org/10.1016/..
 
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2

Lunapark deficiency leads to an autosomal recessive neurode..:

Accogli, Andrea ; Zaki, Maha S ; Al-Owain, Mohammed...
Brain Communications.  , 2023
Link: https://doi.org/10.1093/..
 
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3

P465: The occurrence of noncoding variants, copy number var..:

Gall, Kimberly ; Hathaway, Julie ; Howell, Victoria...
Genetics in Medicine Open.  1 (2023)  1 - p. 100512 , 2023
Link: https://doi.org/10.1016/..
 
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4

Genetic Findings from a Multigene Panel for Autoinflammator..:

Howell, Victoria ; Gall, Kimberly ; Scocchia, Alicia...
Clinical Immunology.  250 (2023)  - p. 109395 , 2023
Link: https://doi.org/10.1016/..
 
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5

Correction to: Diagnostic utility of next-generation sequen..:

Scocchia, Alicia ; Kangas-Kontio, Tiia ; Irving, Melita...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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6

eP358: Genetic findings in a cohort of patients with pulmon..:

Hathaway, Julie ; Cicerchia, Marcos ; Tommiska, Johanna...
Genetics in Medicine.  24 (2022)  3 - p. S224-S225 , 2022
Link: https://doi.org/10.1016/..
 
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7

eP398: Searching beyond the exons in nuclear genes: Diagnos..:

Scocchia, Alicia ; Gall, Kimberly ; Hathaway, Julie...
Genetics in Medicine.  24 (2022)  3 - p. S250-S251 , 2022
Link: https://doi.org/10.1016/..
 
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8

eP359: Diagnostic yield of genetic testing in an unselected..:

Hathaway, Julie ; Cicerchia, Marcos ; Tommiska, Johanna...
Genetics in Medicine.  24 (2022)  3 - p. S225-S226 , 2022
Link: https://doi.org/10.1016/..
 
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9

eP351: Next-generation sequencing panels for cystic kidney ..:

Hathaway, Julie ; Scocchia, Alicia ; Huusko, Johanna...
Genetics in Medicine.  24 (2022)  3 - p. S220 , 2022
Link: https://doi.org/10.1016/..
 
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10

eP399: Characterizing molecular diagnostic findings from ne..:

Scocchia, Alicia ; Gall, Kimberly ; Hathaway, Julie...
Genetics in Medicine.  24 (2022)  3 - p. S251-S252 , 2022
Link: https://doi.org/10.1016/..
 
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11

Diagnostic utility of next-generation sequencing panel test..:

Scocchia, Alicia ; Kangas-Kontio, Tiia ; Pelttari, Liisa...
Molecular Genetics and Metabolism.  132 (2021)  - p. S221-S222 , 2021
Link: https://doi.org/10.1016/..
 
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12

Retrospective review of genetic testing for inherited bone ..:

Jacher, Joe ; Scocchia, Alicia ; Kokkonen, Päivi...
Molecular Genetics and Metabolism.  132 (2021)  - p. S233-S234 , 2021
Link: https://doi.org/10.1016/..
 
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13

Diagnostic utility of next-generation sequencing-based pane..:

Scocchia, Alicia ; Kangas-Kontio, Tiia ; Irving, Melita...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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14

Clinical whole genome sequencing as a first-tier test at a ..:

Scocchia, Alicia ; Wigby, Kristen M. ; Masser-Frye, Diane...
npj Genomic Medicine.  4 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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15

Copy-number variants in clinical genome sequencing: deploym..:

Gross, Andrew M. ; Ajay, Subramanian S. ; Rajan, Vani...
Genetics in Medicine.  21 (2019)  5 - p. 1121-1130 , 2019
Link: https://doi.org/10.1038/..
 
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