Michelle Steinraths

Michelle Steinraths

UNVERIFIED PROFILE

Are you Michelle Steinraths?   Register this Author

Register author
Michelle Steinraths

Michelle Steinraths

Publications by authors named "Michelle Steinraths"

Are you Michelle Steinraths?   Register this Author

14Publications

471Reads

35Profile Views

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98.

Cytogenet Genome Res 2017 31;152(3):117-121. Epub 2017 Aug 31.

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000479463DOI Listing
October 2017

Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features.

Clin Dysmorphol 2016 Apr;25(2):77-81

Departments of aPathology and Laboratory Medicine bMedical Genetics, University of British Columbia cChild and Family Research Institute, Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000108DOI Listing
April 2016

Primary pulmonary arterial hypertension and autoimmune polyendocrine syndrome in a pediatric patient.

Pediatr Cardiol 2010 Aug 22;31(6):872-4. Epub 2010 Apr 22.

Division of Cardiology, Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00246-010-9704-yDOI Listing
August 2010

Delays in diagnosing cystic fibrosis: can we find ways to diagnose it earlier?

Can Fam Physician 2008 Jun;54(6):877-83

Victoria General Hospital in Victoria, BC.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427000PMC
June 2008

Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis.

Am J Med Genet A 2007 Dec;143A(24):2931-6

Cytogenetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31946DOI Listing
December 2007