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Dinusha Pandithan

Showing results (1-10 of 6) with videos related to

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Case Reports in Genetics|September 23, 2022
BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene DeletionDinusha Pandithan, Sonja Klebe, Grace McKavanagh, et al.
JIMD Reports|November 7, 2022
3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosisAshley Hertzog, Arthavan Selvanathan, Dinusha Pandithan, et al.
European Journal of Human Genetics : EJHG|December 9, 2025
"The ability to get ahead": Australian parent perspectives on genomics in newborn screening and considerations for potential models of careSarah-Grace Paguinto, Christian Meagher, Joanne Scarfe, et al.
JIMD Reports|September 13, 2023
Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature reviewOliver Heath, Dinusha Pandithan, James Pitt, et al.
Haematologica|December 17, 2020
Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemiaGiulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, et al.
Cold Spring Harbor Molecular Case Studies|February 15, 2022
Ethylmalonic encephalopathy masquerading as meningococcemiaAri Horton, Kai Mun Hong, Dinusha Pandithan, et al.
Pageof 1

Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
Case Reports in Genetics|September 23, 2022
BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene DeletionDinusha Pandithan, Sonja Klebe, Grace McKavanagh, et al.
JIMD Reports|November 7, 2022
3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosisAshley Hertzog, Arthavan Selvanathan, Dinusha Pandithan, et al.
European Journal of Human Genetics : EJHG|December 9, 2025
"The ability to get ahead": Australian parent perspectives on genomics in newborn screening and considerations for potential models of careSarah-Grace Paguinto, Christian Meagher, Joanne Scarfe, et al.
JIMD Reports|September 13, 2023
Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature reviewOliver Heath, Dinusha Pandithan, James Pitt, et al.
Haematologica|December 17, 2020
Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemiaGiulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, et al.
Cold Spring Harbor Molecular Case Studies|February 15, 2022
Ethylmalonic encephalopathy masquerading as meningococcemiaAri Horton, Kai Mun Hong, Dinusha Pandithan, et al.
Pageof 1