Mianne Lee - Department of Paediatrics and Adolescent Medicine, The University of Hong Kong

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论文共 22 篇作者统计合作学者相似作者

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Familial Thrombotic Microangiopathy in a Child with Coenzyme Q10 Deficiency-Associated Glomerulopathy

Kyle Ying-kit Lin,Ching-wan Lam,Eugene Yu-hin Chan,Mianne Lee, Brian Hon-yin Chung,Cheuk-wing Fung,Richard Rodenburg,Christoph Licht,Alison Lap-tak MA

Pediatric Nephrology (2024)

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Simpson-Golabi-Behmel Syndrome Type 1 with Normal Birth Parameters

Brian Hon Yin Chung, Shu-ling Sophie Yeow,Joshua Chun Ki Chan,Mianne Lee

BMJ CASE REPORTSno. 3 (2024): 1-5

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Whole Genome Sequencing in Paediatric Channelopathy and Cardiomyopathy

Sit Yee Kwok,Anna Ka Yee Kwong, Julia Zhuo Shi, Connie Fong Ying Shih,Mianne Lee,Christopher C. Y. Mak,Martin Chui,Sabrina Tsao,Brian Hon Yin Chung

FRONTIERS IN CARDIOVASCULAR MEDICINE（2024）

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A Case Report of Multicentric Carpotarsal Osteolysis Syndrome: Depiction of a Debilitating Disease Course

Jennifer Yee-ming Li,Fanny Tsz-wai Ho,Mianne Lee, Joyce Chan,Brian Hon-yin Chung,Joanna Yuet-ling Tung,Alison Lap-tak Ma

American journal of medical genetics Part A (2024)

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Revealing Parental Mosaicism: the Hidden Answer to the Recurrence of Apparent De Novo Variants

Mianne Lee,Adrian C. Y. Lui, Joshua C. K. Chan, Phoenix H. L. Doong,Anna K. Y. Kwong,Christopher C. Y. Mak,Raymond H. W. Li,Anita S. Y. Kan,Brian H. Y. Chung

Human genomicsno. 1 (2023): 91-91

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PO-03-148 WHOLE GENOME SEQUENCING IN PEDIATRIC CHANNELOPATHY AND CARDIOMYOPATHY

Sit-Yee Kwok, Julia Z. Shi,Anna K. Kwong, Fong-Ying Shih, Hei To Leung,Mianne Lee,Christopher Mak,Martin Chui,Robin H. Chen,Kin-Shing Lun, Tak-Cheung Yung,Sabrina S. Tsao,Brian Hon-Yin Chung

Heart Rhythmno. 5 (2023): S434-S435

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Correction: A Report and Review of the Recurrent C.811c > T Variant and Mutation Spectrum of Kindler Syndrome in East Asians: a Diagnostic Odyssey of 2 Weeks Versus 49 Years

Annie Tsz Wai Chu,Joshua Chun Ki Chan,Jasmine Lee Fong Fung, Wenshu Tang,Mianne Lee, Sze Man Wong, Man Ho Chung, Geoffrey Yu, Vivien Li, Calvin Tik Hei Ng,Brian Hon Yin Chung

Rare Disease and Orphan Drugs Journalno. 3 (2023)

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Clinical and Molecular Features of Pleuropulmonary Blastoma in Children in Hong Kong: Case Reports

Anthony PY Liu, Monica Fung,Mianne Lee,Jasmine L.F. Fung,Mandy Ho‐Yin Tsang,C W Luk,Brian H.Y. Chung,Godfrey Chi‐Fung Chan

openalex（2022）

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Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept

Mianne Lee,Anna K. Y. Kwong,Martin M. C. Chui,Jeffrey F. T. Chau,Christopher C. Y. Mak, Sandy L. K. Au,Hei Man Lo,Kelvin Y. K. Chan,Vicente A. Yépez,Julien Gagneur,Anita S. Y. Kan,Brian H. Y. Chung

NPJ Genom Med（2022）

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Clinical Implications of Mosaicism: a 10-Year Retrospective Review of 83 Families in a University-Affiliated Genetics Clinic

Mianne Lee,Adrian C. Y. Lui,Christopher C. Y. Mak,Mandy H. Y. Tsang,Jasmine L. F. Fung,K. S. Yeung,Brian Hon Yin Chung

CLINICAL DYSMORPHOLOGY（2022）

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