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Author/Creator Pond, Dinel A.

1. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019)

Authors:
Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl...
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
299
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Multiple pilomatrixomas in a survivor of WNT‐activated medulloblastoma leading to the discovery of a germline APC mutation and the diagnosis of familial adenomatous polyposis. Issue 1 (9th August 2017)

Authors:
Bendelsmith, Charles R.; Skrypek, Mary M.; Patel, Sachin R.; Pond, Dinel A.; Linabery, Amy M.; Bendel, Anne E.
Journal:
Pediatric blood & cancer
Issue:
Volume 65:Issue 1(2018)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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