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Year | Number of Results |
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2021 | 1 |
2022 | 3 |
2023 | 1 |
2024 | 0 |
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Page 1
Ethylmalonic encephalopathy masquerading as meningococcemia.
Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006193. doi: 10.1101/mcs.a006193. Print 2022 Feb.
Cold Spring Harb Mol Case Stud. 2022.
PMID: 35165146
Free PMC article.
Biallelic IARS2 mutations presenting as sideroblastic anemia.
Barcia G, Pandithan D, Ruzzenente B, Assouline Z, Pennisi A, Ormieres C, Besmond C, Roux CJ, Boddaert N, Desguerre I, Thorburn DR, Bratkovic D, Munnich A, Bonnefont JP, Rötig A, Steffann J.
Barcia G, et al. Among authors: pandithan d.
Haematologica. 2021 Apr 1;106(4):1220-1225. doi: 10.3324/haematol.2020.270710.
Haematologica. 2021.
PMID: 33327715
Free PMC article.
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BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion.
Pandithan D, Klebe S, McKavanagh G, Rawlings L, Yu S, Nicholl J, Poplawski N.
Pandithan D, et al.
Case Rep Genet. 2022 Sep 13;2022:5503505. doi: 10.1155/2022/5503505. eCollection 2022.
Case Rep Genet. 2022.
PMID: 36148247
Free PMC article.
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3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.
Hertzog A, Selvanathan A, Pandithan D, Kim WT, Kava MP, Boneh A, Coman D, Tolun AA, Bhattacharya K.
Hertzog A, et al. Among authors: pandithan d.
JIMD Rep. 2022 Sep 14;63(6):568-574. doi: 10.1002/jmd2.12332. eCollection 2022 Nov.
JIMD Rep. 2022.
PMID: 36341175
Free PMC article.
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Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review.
Heath O, Pandithan D, Pitt J, Savva E, Raiti L, Bracken J, Vandeleur M, Delatycki MB, Yaplito-Lee J, Hardikar W, Halligan R.
Heath O, et al. Among authors: pandithan d.
JIMD Rep. 2023 Aug 19;64(5):337-345. doi: 10.1002/jmd2.12390. eCollection 2023 Sep.
JIMD Rep. 2023.
PMID: 37701323
Free PMC article.
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