Výsledky vyhledávání - "Kathy H C Wu"

Akademický článek

A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing

Autor: Bianca R. Grosz, Stephen Tisch, Michel C. Tchan, Victor S. C. Fung, Paul Darveniza, Avi Fellner, Manju A. Kurian, Alison McLean, Susan E. Tomlinson, Renee Smyth, Sophie Devery, Kathy H. C. Wu, Marina L. Kennerson, Kishore R. Kumar

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)

Abstract Background Heterozygous KMT2B variants are a common cause of dystonia. A novel synonymous KMT2B variant, c.5073C>T (p.Gly1691=) was identified in an individual with childhood‐onset progressive dystonia. Methods The splicing impact of c.507

Externí odkaz: https://doaj.org/article/c5bd7cb544b846f1b7533864122581bf

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Informing a value care model: lessons from an integrated adult neurogenomics clinic

Autor: Alison McLean, Michel Tchan, Sophie Devery, Renee Smyth, Rupendra Shrestha, Kishore R. Kumar, Susan Tomlinson, Stephen Tisch, Kathy H. C. Wu

Publikováno v: Internal Medicine Journal.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a042e95b6f068bec5cd6de49f229d98c
https://doi.org/10.1111/imj.16103

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Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency

Publikováno v: Journal of Clinical Immunology
Journal of Clinical Immunology, volume 41, pages1915–1935 (2021)

Purpose Deficiency of adenosine deaminase type 2 (ADA2) (DADA2) is a rare inborn error of immunity caused by deleterious biallelic mutations in ADA2. Clinical manifestations are diverse, ranging from severe vasculopathy with lacunar strokes to immuno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::413bcd88ba039078d84e5f8e6b3f683c
http://europepmc.org/articles/PMC8604888

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A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing

Publikováno v: Molecular Genetics & Genomic Medicine. 10

Heterozygous KMT2B variants are a common cause of dystonia. A novel synonymous KMT2B variant, c.5073CT (p.Gly1691=) was identified in an individual with childhood-onset progressive dystonia.The splicing impact of c.5073CT was assessed using an in vit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cb5d91164c8d239438bdb65c4c4a093
https://doi.org/10.1002/mgg3.1923

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087 An integrated neurogenomics clinic – 28-months experience and outcome of a tertiary referral centre

Autor: Kishore Kumar, Alison McLean, Susan Tomlinson, Kathy H C Wu, Renee Smyth, Stephen Tisch, Sophie Devery, Michel Tchan

Publikováno v: BMJ Neurology Open, Vol 3, Iss Suppl 1 (2021)

Objectives To retrospectively review attendance and outcomes of a single centre, integrated multi-disciplinary (MDT) neurogenomics clinic at St Vincent’s Hospital, Sydney. Methods An audit of patients who attended the neurogenomics clinic was condu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f6ecab1d9fc44456468dcfbbbf695cb
https://doi.org/10.1136/bmjno-2021-anzan.87

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KBG syndrome presenting with brachydactyly type E

Autor: Sophie Devery, Renata Libianto, Kathy H C Wu, John A. Eisman

Publikováno v: Bone. 123:18-22

We report the case of a young woman who presented at age 10 years with height on the tenth centile, brachydactyly type E and mild developmental delay. Biochemistry and hormonal profiles were normal. Differential diagnoses considered included Albright

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb94b2c1afd3d2bb4f95cc551404fa49
https://doi.org/10.1016/j.bone.2019.03.012

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