Hasil Pencarian - Dinusha Pandithan
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1
BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion oleh Dinusha Pandithan, Sonja Klebe, Grace McKavanagh, Lesley Rawlings, Sui Yu, Jillian Nicholl, Nicola Poplawski
Diterbitkan 2022-01-01Dapatkan teks lengkap
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2
3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis oleh Ashley Hertzog, Arthavan Selvanathan, Dinusha Pandithan, Won‐Tae Kim, Maina P. Kava, Avihu Boneh, David Coman, Adviye Ayper Tolun, Kaustuv Bhattacharya
Diterbitkan 2022-11-01Dapatkan teks lengkap
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3
Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review oleh Oliver Heath, Dinusha Pandithan, James Pitt, Elena Savva, Laura Raiti, Jenny Bracken, Moya Vandeleur, Martin B. Delatycki, Joy Yaplito‐Lee, Winita Hardikar, Rebecca Halligan
Diterbitkan 2023-09-01Dapatkan teks lengkap
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4
Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemia oleh Giulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, Zahra Assouline, Alessandra Pennisi, Clothilde Ormieres, Claude Besmond, Charles-Joris Roux, Nathalie Boddaert, Isabelle Desguerre, David R. Thorburn, Drago Bratkovic, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig, Julie Steffann
Diterbitkan 2020-12-01Dapatkan teks lengkap
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