Victoria Mok Siu

Victoria Mok Siu

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Victoria Mok Siu

Victoria Mok Siu

Publications by authors named "Victoria Mok Siu"

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20Publications

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Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.

Am J Med Genet A 2019 03 16;179(3):386-396. Epub 2019 Jan 16.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61025DOI Listing
March 2019

Mutation Interrupts Nucleolin-mTOR-P70S6K Signaling in Rett Syndrome Patients.

Front Genet 2018 19;9:635. Epub 2018 Dec 19.

Regenerative Medicine Program, and Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.

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http://dx.doi.org/10.3389/fgene.2018.00635DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305968PMC
December 2018

Using eye-tracking technology for communication in Rett syndrome: perceptions of impact.

Augment Altern Commun 2018 09 27;34(3):230-241. Epub 2018 Apr 27.

b Research Department , Thames Valley Children's Centre , London , Ontario , Canada.

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http://dx.doi.org/10.1080/07434618.2018.1462848DOI Listing
September 2018

Choosing Wisely Canada: The Canadian College of Medical Geneticists' (CCMG) list of five items physicians and patients should question.

J Med Genet 2018 02 19;55(2):86-88. Epub 2017 Aug 19.

Department of Medical Genetics, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2017-104924DOI Listing
February 2018

A fourth case of Feingold syndrome type 2: psychiatric presentation and management.

BMJ Case Rep 2014 Nov 12;2014. Epub 2014 Nov 12.

Brain and Mind Institute, University of Western Ontario, London, Ontario, Canada Department of Clinical Neurological Sciences, University of Western Ontario, London, Ontario, Canada.

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http://dx.doi.org/10.1136/bcr-2014-207501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4244445PMC
November 2014

Situs inversus totalis and a novel ZIC3 mutation in a family with X-linked heterotaxy.

Congenit Heart Dis 2013 Mar-Apr;8(2):E36-40. Epub 2011 Dec 16.

Department of Pediatrics, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada.

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http://doi.wiley.com/10.1111/j.1747-0803.2011.00602.x
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http://dx.doi.org/10.1111/j.1747-0803.2011.00602.xDOI Listing
September 2013

Congenital myotonic dystrophy: Canadian population-based surveillance study.

J Pediatr 2013 Jul 14;163(1):120-5.e1-3. Epub 2013 Feb 14.

Department of Pediatrics, Shulich School of Medicine, London Health Sciences Center, University of Western Ontario, London, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jpeds.2012.12.070DOI Listing
July 2013

Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome.

Am J Med Genet A 2011 Jul 10;155A(7):1685-9. Epub 2011 Jun 10.

Manchester Biomedical Research Centre, MAHSC, St Mary's Hospital, UK.

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http://dx.doi.org/10.1002/ajmg.a.34055DOI Listing
July 2011

Amish, mennonite, and hutterite genetic disorder database.

Paediatr Child Health 2011 Mar;16(3):e23-4

Schulich School of Medicine and Dentistry;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3077314PMC
http://dx.doi.org/10.1093/pch/16.3.e23DOI Listing
March 2011

Amish microcephaly: Long-term survival and biochemical characterization.

Am J Med Genet A 2010 Jul;152A(7):1747-51

Department of Pediatrics, University of Western Ontario, London, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.33373DOI Listing
July 2010

Bilateral complete isolated cryptophthalmos: a case report.

Ophthalmic Genet 2005 Dec;26(4):185-9

University of Western Ontario, London, Ontario, Canada.

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http://dx.doi.org/10.1080/13816810500374557DOI Listing
December 2005