OpenURL Connection Search

Select item for more details and to access through your institution.

The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study.
Published in:
Journal of Child Neurology, 2023, v. 38, n. 5, p. 329, doi. 10.1177/08830738231176672
By:
- Yazdani, Pouneh Amir;
- St-Jean, Marie-Lou;
- Matovic, Sara;
- Spahr, Aaron;
- Tran, Luan T.;
- Boucher, Renée-Myriam;
- Poulin, Chantal;
- Osterman, Bradley;
- Srour, Myriam;
- Rosenblatt, Bernard;
- Chénier, Sébastien;
- Soucy, Jean-Francois;
- Laberge, Anne-Marie;
- D'Agostino, Maria Daniela;
- Nguyen, Cam-Tu Emilie;
- Morsa, Maxime;
- Bernard, Geneviève
Publication type:
Article
Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic.
Published in:
Journal of Child Neurology, 2022, v. 37, n. 4, p. 237, doi. 10.1177/08830738211065317
By:
- Amir Yazdani, Pouneh;
- St-Jean, Marie-Lou;
- Matovic, Sara;
- Spahr, Aaron;
- Tran, Luan T.;
- Boucher, Renée-Myriam;
- Poulin, Chantal;
- Osterman, Bradley;
- Srour, Myriam;
- Rosenblatt, Bernard;
- Chenier, Sébastien;
- Soucy, Jean-Francois;
- Laberge, Anne-Marie;
- Braverman, Nancy;
- D'Agostino, Maria Daniela;
- Nguyen, Cam-Tu Emilie;
- Morsa, Maxime;
- Bernard, Geneviève
Publication type:
Article
Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.
Published in:
Journal of Child Neurology, 2019, v. 34, n. 2, p. 74, doi. 10.1177/0883073818811223
By:
- Accogli, Andrea;
- Guerrero, Kether;
- D'Agostino, Maria Daniela;
- Tran, Luan;
- Cieuta-Walti, Cécile;
- Thiffault, Isabelle;
- Chénier, Sébastien;
- Schwartzentruber, Jeremy;
- Majewski, Jacek;
- Bernard, Geneviève
Publication type:
Article
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.
Published in:
2016
By:
- Lévesque, Sébastien;
- Auray-Blais, Christiane;
- Gravel, Elaine;
- Boutin, Michel;
- Dempsey-Nunez, Laura;
- Jacques, Pierre-Etienne;
- Chenier, Sébastien;
- Larue, Sandrine;
- Rioux, Marie-France;
- Al-Hertani, Walla;
- Nadeau, Amelie;
- Mathieu, Jean;
- Maranda, Bruno;
- Désilets, Valérie;
- Waters, Paula J.;
- Keutzer, Joan;
- Austin, Stephanie;
- Kishnani, Priya
Publication type:
journal article
Phosphorylation-independent desensitization of GABA<sub>B</sub> receptor by GRK4.
Published in:
EMBO Journal, 2003, v. 22, n. 15, p. 3816, doi. 10.1093/emboj/cdg383
By:
- Perroy, Julie;
- Adam, Lynda;
- Qanbar, Riad;
- Chénier, Sébastien;
- Bouvier, Michel
Publication type:
Article
Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2946, doi. 10.1002/ajmg.a.35619
By:
- Chénier, Sébastien;
- Noor, Abdul;
- Dupuis, Lucie;
- Stavropoulos, Dimitri J;
- Mendoza-Londono, Roberto
Publication type:
Article
Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2551, doi. 10.1002/ajmg.a.35621
By:
- Guerin, Andrea;
- Stavropoulos, Dimitri J;
- Diab, Yaser;
- Chénier, Sébastien;
- Christensen, Hilary;
- Kahr, Walter HA;
- Babul-Hirji, Riyana;
- Chitayat, David
Publication type:
Article
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.
Published in:
Journal of Neurodevelopmental Disorders, 2014, v. 6, n. 1, p. 1, doi. 10.1186/1866-1955-6-9
By:
- Chénier, Sébastien;
- Yoon, Grace;
- Argiropoulos, Bob;
- Lauzon, Julie;
- Laframboise, Rachel;
- Joo Wook Ahn;
- Ogilvie, Caroline Mackie;
- Lionel, Anath C.;
- Marshall, Christian R.;
- Vaags, Andrea K.;
- Hashemi, Bita;
- Boisvert, Karine;
- Mathonnet, Géraldine;
- Tihy, Frédérique;
- So, Joyce;
- Scherer, Stephen W.;
- Lemyre, Emmanuelle;
- Stavropoulos, Dimitri J.
Publication type:
Article
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.
Published in:
BMC Medical Genomics, 2011, v. 4, n. 1, p. 25, doi. 10.1186/1755-8794-4-25
By:
- Tucker, Tracy;
- Montpetit, Alexandre;
- Chai, David;
- Susanna Chan;
- Chénier, Sébastien;
- Coe, Bradley P.;
- Delaney, Allen;
- Eydoux, Patrice;
- Lam, Wan L.;
- Langlois, Sylvie;
- Lemyre, Emmanuelle;
- Marra, Marco;
- Hong Qian;
- Rouleau, Guy A.;
- Vincent, David;
- Michaud, Jacques L.;
- Friedman, Jan M.
Publication type:
Article
Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 22, doi. 10.1002/ajmg.a.33783
By:
- Milunsky, Jeff M.;
- Maher, Tom M.;
- Zhao, Geping;
- Wang, Zhenyuan;
- Mulliken, John B.;
- Chitayat, David;
- Clemens, Michele;
- Stalker, Heather J.;
- Bauer, Mislen;
- Burch, Michele;
- Chénier, Sébastien;
- Cunningham, Michael L.;
- Drack, Arlene V.;
- Janssens, Sandra;
- Karlea, Audrey;
- Klatt, Regan;
- Kini, Usha;
- Klein, Ophir;
- Lachmeijer, Augusta M.;
- Megarbane, Andre
Publication type:
Article
Pheno Tips: Patient Phenotyping Software for Clinical and Research Use.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. 1057, doi. 10.1002/humu.22347
By:
- Girdea, Marta;
- Dumitriu, Sergiu;
- Fiume, Marc;
- Bowdin, Sarah;
- Boycott, Kym M.;
- Chénier, Sébastien;
- Chitayat, David;
- Faghfoury, Hanna;
- Meyn, M. Stephen;
- Ray, Peter N.;
- So, Joyce;
- Stavropoulos, Dimitri J.;
- Brudno, Michael
Publication type:
Article

Found: 11