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Author/Creator Tchan, Michel C.

1. A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing. Issue 5 (16th March 2022)

Authors:
Grosz, Bianca R.; Tisch, Stephen; Tchan, Michel C.; Fung, Victor S. C.; Darveniza, Paul; Fellner, Avi; Kurian, Manju A.; McLean, Alison; Tomlinson, Susan E.; Smyth, Renee; Devery, Sophie; Wu, Kathy H. C.; Kennerson, Marina L.; Kumar, Kishore R.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 10:Issue 5(2022)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Identifying and integrating consumer perspectives in clinical practice guidelines on autosomal‐dominant polycystic kidney disease. Issue 2 (February 2016)

Authors:
Tong, Allison; Tunnicliffe, David J.; Lopez‐Vargas, Pamela; Mallett, Andrew; Patel, Chirag; Savige, Judy; Campbell, Katrina; Patel, Manish; Tchan, Michel C.; Alexander, Stephen I; Lee, Vincent; Craig, Jonathan C.; Fassett, Robert; Rangan, Gopala K.
Journal:
Nephrology
Issue:
Volume 21:Issue 2(2016)
Page Start:
122
Record Type:
Journal Article
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5. Recurrent Biallelic p.L347P PINK1 Variant in Polynesians with Parkinsonism and Isolated Dopa‐Responsive Dystonia. Issue 5 (2nd July 2022)

Authors:
Morales‐Briceno, Hugo; Ong, Tien Lee; Duma, Stephen R.; Murray, Natalia; Pepper, Elizabeth M.; Ha, Ainhi; Tchan, Michel C.; Fung, Victor S.C.
Journal:
Movement disorders clinical practice
Issue:
Volume 9:Issue 5(2022)
Page Start:
696
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase. (February 2021)

Authors:
Waddell, Leigh B.; Bryen, Samantha J.; Cummings, Beryl B.; Bournazos, Adam; Evesson, Frances J.; Joshi, Himanshu; Marshall, Jamie L.; Tukiainen, Taru; Valkanas, Elise; Weisburd, Ben; Sadedin, Simon; Davis, Mark R.; Faiz, Fathimath; Gooding, Rebecca; Sandaradura, Sarah A.; O'Grady, Gina L.; Tchan,...
Journal:
Neurology
Issue:
Volume 7:Number 1(2021)
Page Start:
Record Type:
Journal Article
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7. Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes. (December 2019)

Authors:
Kumar, Kishore R.; Davis, Ryan L.; Tchan, Michel C.; Wali, G.M.; Mahant, Neil; Ng, Karl; Kotschet, Katya; Siow, Sue-Faye; Gu, Jason; Walls, Zachary; Kang, Ce; Wali, Gautam; Levy, Stan; Phua, Chung Sen; Yiannikas, Con; Darveniza, Paul; Chang, Florence C.F.; Morales-Briceño, Hugo; Rowe, Dominic B.;...
Journal:
Parkinsonism & related disorders
Issue:
Volume 69(2019)
Page Start:
111
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗