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Author/Creator Lichty, Angie

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. Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism. Issue 5 (6th September 2022)

Authors:
Colonna, Maxwell B; Moss, Tonya; Mokashi, Sneha; Srikanth, Sujata; Jones, Julie R; Foley, Jackson R; Skinner, Cindy; Lichty, Angie; Kocur, Anthony; Wood, Tim; Stewart, Tracy Murray; Casero Jr., Robert A; Flanagan-Steet, Heather; Edison, Arthur S; Lyons, Michael J; Steet, Richard
Journal:
Human molecular genetics
Issue:
Volume 32:Issue 5(2023)
Page Start:
732
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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