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Gomes, Alicia
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1

Genotype–Phenotype Correlation in Neurofibromatosis Type 1:..:

Chen, Yunjia ; Fu, Yulong ; Koczkowska, Magdalena...
Cancers.  16 (2024)  13 - p. 2406 , 2024
Link: https://doi.org/10.3390/..
 
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2

Analysis of 200 unrelated individuals with a constitutional..:

Koczkowska, Magdalena ; Chen, Yunjia ; Xie, Jing...
Human Genetics.  142 (2023)  7 - p. 849-861 , 2023
Link: https://doi.org/10.1007/..
 
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3

Neurofibromatosis‐ and schwannomatosis‐associated tumors: A..:

Goetsch Weisman, Allison ; Weiss McQuaid, Shelly ; Radtke, Heather B....
American Journal of Medical Genetics Part A.  191 (2023)  10 - p. 2467-2481 , 2023
Link: https://doi.org/10.1002/..
 
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4

eP330: Mosaicism for SMARCB1 or LZTR1 variants in patients ..:

Chen, Yunjia ; Gomes, Alicia ; Dong, Juan.
Genetics in Medicine.  24 (2022)  3 - p. S206-S207 , 2022
Link: https://doi.org/10.1016/..
 
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5

Revised diagnostic criteria for neurofibromatosis type 1 an..:

Legius, Eric ; Messiaen, Ludwine ; Wolkenstein, Pierre...
Genetics in Medicine.  23 (2021)  8 - p. 1506-1513 , 2021
Link: https://doi.org/10.1038/..
 
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6

Targeted massively parallel sequencing of candidate regions..:

Piotrowski, Arkadiusz ; Koczkowska, Magdalena ; Poplawski, Andrzej B....
Human Mutation.  43 (2021)  1 - p. 74-84 , 2021
Link: https://doi.org/10.1002/..
 
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7

Constitutional mismatch repair deficiency is the diagnosis ..:

Perez-Valencia, Juan A. ; Gallon, Richard ; Chen, Yunjia...
Genetics in Medicine.  22 (2020)  12 - p. 2081-2088 , 2020
Link: https://doi.org/10.1038/..
 
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8

Expanding the clinical phenotype of individuals with a 3-bp..:

Koczkowska, Magdalena ; Callens, Tom ; Gomes, Alicia...
Genetics in Medicine.  21 (2019)  4 - p. 867-876 , 2019
Link: https://doi.org/10.1038/..
 
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9

Clinical spectrum of individuals with pathogenicNF1missense..:

Koczkowska, Magdalena ; Callens, Tom ; Chen, Yunjia...
Human Mutation.  41 (2019)  1 - p. 299-315 , 2019
Link: https://doi.org/10.1002/..
 
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10

Correction: Expanding the clinical phenotype of individuals..:

Koczkowska, Magdalena ; Callens, Tom ; Gomes, Alicia...
Genetics in Medicine.  21 (2019)  3 - p. 764-765 , 2019
Link: https://doi.org/10.1038/..
 
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11

List of Contributors:

, In: Pediatric Cancer Genetics,
Alva, Elizabeth ; Austin Hamm, J. ; Chewning, Joseph H.... - p. v , 2018
Link: https://doi.org/10.1016/..
 
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12

Genetic Testing Techniques:

, In: Pediatric Cancer Genetics,
Gomes, Alicia ; Korf, Bruce - p. 47-64 , 2018
Link: https://doi.org/10.1016/..
 
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13

Genotype-Phenotype Correlation in NF1: Evidence for a More ..:

Koczkowska, Magdalena ; Chen, Yunjia ; Callens, Tom...
The American Journal of Human Genetics.  102 (2018)  1 - p. 69-87 , 2018
Link: https://doi.org/10.1016/..
 
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14

High Incidence of Noonan Syndrome Features Including Short ..:

Rojnueangnit, Kitiwan ; Xie, Jing ; Gomes, Alicia...
Human Mutation.  36 (2015)  11 - p. 1052-1063 , 2015
Link: https://doi.org/10.1002/..
 
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15

Jaffe–Campanacci syndrome, revisited: detailed clinical and..:

Stewart, Douglas R. ; Brems, Hilde ; Gomes, Alicia G....
Genetics in Medicine.  16 (2014)  6 - p. 448-459 , 2014
Link: https://doi.org/10.1038/..
 
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