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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Duodenal Obstruction Associated With 3q29 Microdeletion Syndrome in a 10‐Year‐Old Child: 2371. (October 2015) Authors: Galeano, Narmer F.; Gupta, Punita Journal: American journal of gastroenterology Issue: Volume 110(2015)Supplement Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Pharmacological treatment of pediatric Gaucher disease. Issue 11 (2nd December 2018) Authors: Gupta, Punita; Pastores, Gregory Journal: Expert review of clinical pharmacology Issue: Volume 12:Issue 11(2018) Page Start: 1183 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Transitory Hemophagocytic Lymphohistiocytosis (HLH)/Macrophage Activation Syndrome (MAS) in a Child With Very Early Onset (VEO) of Ulcerative Colitis (UC) Complicated With Primary Sclerosing Cholangitis (PSC): 2518. (October 2019) Authors: Galeano, Narmer F.; Rivera‐Penera, Maria T.; Bonilla, Mary A.; Menell, Jill S.; Kosinski, Mark; Gupta, Punita; Srinivasan‐Mehta, Jaya Journal: American journal of gastroenterology Issue: Volume 114 (2019)ACG Abstracts 1:Supplement Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗