학술논문
'학술논문'
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1~10
Academic Journal
Anderson, Karl E.; Lobo, Raynah; Salazar, Denise; Schloetter, Mary; Spitzer, Gary; White, Amy L.; Young, Randolph M.; Bonkovsky, Herbert L.; Frank, Elizabeth L.; Mora, Jordanna; Tortorelli, Silvia
In The American Journal of the Medical Sciences August 2021 362(2):113-121
Academic Journal
Sanders, Karen; Peck, Dawn; Bentz Pino, Gisele; Studinski Jones, April; White, Amy; Gavrilov, Dimitar; Matern, Dietrich; Oglesbee, Devin; Schultz, Matthew; Tortorelli, Silvia; Hall, Patricia L.
In Molecular Genetics and Metabolism May 2024 142(1)
Academic Journal
Stander, Zinandré; Ammous, Zineb; Werker, Joanne; Miller, Marcus; Sapp, Katherine; Hainline, Bryan; Mendelsohn, Bryce; Studinski, April; Schultz, Matthew; Hall, Patricia; Matern, Dietrich; Tortorelli, Silvia; Oglesbee, Devin; Gavrilov, Dimitar
In Molecular Genetics and Metabolism March 2023 138(3)
Academic Journal
Pino, Gisele; Peck, Dawn; Studinski, April; White, Amy; Gavrilov, Dimitar; Oglesbee, Devin; Tortorelli, Silvia; Hall, Patricia; Schultz, Matthew; Matern, Dietrich
In Molecular Genetics and Metabolism March 2023 138(3)
Academic Journal
In Molecular Genetics and Metabolism March 2023 138(3)
Book
In Biochemical and Molecular Basis of Pediatric Disease Edition: Fifth Edition. 2021:503-528
In JAAD Case Reports February 2023 32:44-47
Academic Journal
Wegwerth, Peter J.; White, Amy L.; Stoway, Stephanie D.; Loken, Perry R.; Oglesbee, Devin; Matern, Dietrich; Tortorelli, Silvia; Raymond, Kimiyo M.; Braverman, Nancy E.; Gavrilov, Dimitar K.
Journal of Inherited Metabolic Disease; Nov2023, Vol. 46 Issue 6, p1159-1169, 11p
Academic Journal
Rosati, Justin; Johnson, Jessica; Stander, Zinandre; White, Amy; Tortorelli, Silvia; Bailey, Diana; Fong, Chin‐To; Lee, Bo Hoon
American Journal of Medical Genetics. Part A; Mar2023, Vol. 191 Issue 3, p842-845, 4p
Academic Journal
Guenzel, Adam J.; Hall, Patricia L.; Scott, Anna I.; Lam, Christina; Chang, Irene J.; Thies, Jenny; Ferreira, Carlos R.; Pichurin, Pavel; Laxen, William; Raymond, Kimiyo; Gavrilov, Dimitar K.; Oglesbee, Devin; Rinaldo, Piero; Matern, Dietrich; Tortorelli, Silvia
JIMD Reports. July 2021, Vol. 60 Issue 1, p67, 8 p.
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[AR] Tortorelli, Silvia
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