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Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions.
Published in:
Journal of Genetic Counseling, 2019, v. 28, n. 1, p. 10, doi. 10.1007/s10897-018-0281-1
By:
- Adam, Shelin;
- Birch, Patricia H.;
- Coe, Rachel R.;
- Bansback, Nick;
- Jones, Adrian L.;
- Connolly, Mary B.;
- Demos, Michelle K.;
- Toyota, Eric B.;
- Farrer, Matthew J.;
- Friedman, Jan M.
Publication type:
Article
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-15
By:
- Demos, Michelle K.;
- van Karnebeek, Clara D. M.;
- Ross, Colin J. D.;
- Adam, Shelin;
- Yaoqing Shen;
- Shing Hei Zhan;
- Shyr, Casper;
- Horvath, Gabriella;
- Mohnish Suri;
- Fryer, Alan;
- Jones, Steven J. M.;
- Friedman, Jan M.
Publication type:
Article
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
Published in:
2014
By:
- Demos, Michelle K;
- van Karnebeek, Clara Dm;
- Ross, Colin Jd;
- Adam, Shelin;
- Shen, Yaoqing;
- Zhan, Shing Hei;
- Shyr, Casper;
- Horvath, Gabriella;
- Suri, Mohnish;
- Fryer, Alan;
- Jones, Steven Jm;
- Friedman, Jan M;
- FORGE Canada Consortium
Publication type:
journal article
6‐Pyruvoyl‐tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.
Published in:
Annals of Neurology, 2005, v. 58, n. 1, p. 164
By:
- Michelle K. Demos;
- Paula J. Waters;
- Hilary D. Vallance;
- Yolanda Lillquist;
- Nawal Makhseed;
- Keith Hyland;
- Nenad Blau;
- Mary B. Connolly
Publication type:
Article
Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Published in:
BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-023-03478-y
By:
- Hebbar, Malavika;
- Al-Taweel, Nawaf;
- Gill, Inderpal;
- Boelman, Cyrus;
- Dean, Richard A.;
- Goodchild, Samuel J.;
- Mezeyova, Janette;
- Shuart, Noah Gregory;
- Johnson Jr., J. P.;
- Lee, James;
- Michoulas, Aspasia;
- Huh, Linda L.;
- Armstrong, Linlea;
- Connolly, Mary B.;
- Demos, Michelle K.
Publication type:
Article
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.
Published in:
2021
By:
- Cook, Courtney B.;
- Armstrong, Linlea;
- Boerkoel, Cornelius F.;
- Clarke, Lorne A.;
- du Souich, Christèle;
- Demos, Michelle K.;
- Gibson, William T.;
- Gill, Harinder;
- Lopez, Elena;
- Patel, Millan S.;
- Selby, Kathryn;
- Abu-Sharar, Ziad;
- Elliott, Alison M.;
- Friedman, Jan M.
Publication type:
Case Study
A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.
Published in:
Movement Disorders, 2009, v. 24, n. 5, p. 778, doi. 10.1002/mds.22467
By:
- Demos, Michelle K.;
- Macri, Vincenzo;
- Farrell, Kevin;
- Nelson, Tanya N.;
- Chapman, Kristine;
- Accili, Eric;
- Armstrong, Linlea
Publication type:
Article

Found: 7

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions.

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.

6‐Pyruvoyl‐tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.

Expanding the genotype-phenotype spectrum in SCN8A-related disorders.

Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.

A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.