Fiona Gardiner - University of Melbourne

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Papers共 6 篇Author StatisticsCo-AuthorSimilar Experts

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Experience of the First Adult-Focussed Undiagnosed Disease Program in Australia (AHA-UDP): Solving Rare and Puzzling Genetic Disorders is Ageless

Mathew Wallis,Simon D. Bodek,Jacob Munro,Haloom Rafehi,Mark F. Bennett,Zimeng Ye,Amy Schneider,Fiona Gardiner,Giulia Valente, Emma Murdoch,Eloise Uebergang, Jacquie Hunter,Chloe Stutterd,Aamira Huq,Lucinda Salmon,Ingrid Scheffer,Dhamidhu Eratne,Stephen Meyn, Chun Y. Fong,Tom John,Saul Mullen, Susan M. White,Natasha J. Brown,George McGillivray, Jesse Chen, Chris Richmond, Andrew Hughes,Emma Krzesinski,Andrew Fennell,Brian Chambers, Renee Santoreneos,Anna Le Fevre,Michael S. Hildebrand,Melanie Bahlo,John Christodoulou,Martin Delatycki,Samuel F. Berkovic

ORPHANET JOURNAL OF RARE DISEASESno. 1 (2024)

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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Bobby G. Ng,Erik A. Eklund,Sergey A. Shiryaev,Yin Y. Dong,Mary‐Alice Abbott,Carla Asteggiano,Michael J. Bamshad,Eileen Barr,Jonathan A. Bernstein, Shabeed Chelakkadan,John Christodoulou,Wendy K. Chung,Michael A. Ciliberto,Janice Cousin,Fiona Gardiner,Suman Ghosh,William D. Graf,Stephanie Grunewald,Katherine Hammond,Natalie S. Hauser,George E. Hoganson,Kimberly M. Houck,Jennefer N. Kohler,Eva Morava,Austin A. Larson,Pengfei Liu,Sujana Madathil,Colleen McCormack,Naomi J.L. Meeks,Rebecca Miller,Kristin G. Monaghan,Deborah A. Nickerson,Timothy Blake Palculict,Gabriela Magali Papazoglu,Beth A. Pletcher,Ingrid E. Scheffer, Andrea Beatriz Schenone,Rhonda E. Schnur,Yue Si, Leah J. Rowe,Alvaro H. Serrano Russi,Rossana Sanchez Russo,Farouq Thabet,Allysa Tuite,María Mercedes Villanueva,Raymond Y. Wang,Richard I. Webster, Dorcas Wilson,Alice Zalan,Lynne A. Wolfe,Jill A. Rosenfeld,Lindsay Rhodes,Hudson H. Freeze

Journal of Inherited Metabolic Diseaseno. 6 (2020): 1333-1348

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Predominant and Novel De Novo Variants in 29 Individuals with ALG13 Deficiency: Clinical Description, Biomarker Status, Biochemical Analysis, and Treatment Suggestions

Bobby G. Ng,Erik A. Eklund,Sergey A. Shiryaev,Yin Y. Dong,Mary-Alice Abbott,Carla Asteggiano,Michael J. Bamshad,Eileen Barr,Jonathan A. Bernstein, Shabeed Chelakkadan,John Christodoulou,Wendy K. Chung,Michael A. Ciliberto,Janice Cousin,Fiona Gardiner,Suman Ghosh,William D. Graf,Stephanie Grunewald,Katherine Hammond,Natalie S. Hauser,George E. Hoganson,Kimberly M. Houck,Jennefer N. Kohler,Eva Morava,Austin A. Larson,Pengfei Liu,Sujana Madathil,Colleen McCormack,Naomi J. L. Meeks,Rebecca Miller,Kristin G. Monaghan,Deborah A. Nickerson,Timothy Blake Palculict,Gabriela Magali Papazoglu,Beth A. Pletcher,Ingrid E. Scheffer, Andrea Beatriz Schenone,Rhonda E. Schnur,Yue Si, Leah J. Rowe,Alvaro H. Serrano Russi,Rossana Sanchez Russo,Farouq Thabet,Allysa Tuite,Maria Mercedes Villanueva,Raymond Y. Wang,Richard Webster, Dorcas Wilson,Alice Zalan,Lynne A. Wolfe,Jill A. Rosenfeld,Lindsay Rhodes,Hudson H. Freeze

Journal of inherited metabolic disease（2020）

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