Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G Mutation

بواسطة Hannah-Shmouni, Fady, Sirrs, Sandra, Mezei, Michelle M., Waters, Paula J., Mattman, Andre
منشور في 2013

Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene

بواسطة Waters, Paula J., Thuriot, Fanny, Clarke, Joe T.R., Gravel, Serge, Watkins, David, Rosenblatt, David S., Lévesque, Sébastien
الحاوية / القاعدة Mol Genet Metab Rep (2016)

Screening for Fabry Disease in Patients with Chronic Kidney Disease: Limitations of Plasma α-Galactosidase Assay as a Screening Test

بواسطة Andrade, Jason, Waters, Paula J., Singh, R. Suneet, Levin, Adeera, Toh, Bee-Chin, Vallance, Hilary D., Sirrs, Sandra
منشور في 2008

Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy

بواسطة Kitzler, Thomas M., Gupta, Indra R., Osterman, Bradley, Poulin, Chantal, Trakadis, Yannis, Waters, Paula J., Buhas, Daniela C.
الحاوية / القاعدة JIMD Rep (2018)

HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec

بواسطة Waters, Paula J., Lace, Baiba, Buhas, Daniela, Gravel, Serge, Cyr, Denis, Boucher, Renée‐Myriam, Bernard, Geneviève, Lévesque, Sébastien, Maranda, Bruno
الحاوية / القاعدة Mol Genet Genomic Med (2019)

Struggling for breath in Sherbrooke - 1st Symposium on “One mitochondrion, many diseases” in Sherbrooke, Québec, Canada, March 11th, 2015

بواسطة Braun, Ralf J., Dumit, Verónica I., Monpays, Cécile, Roucou, Xavier, Serrano, Daniel, St-Pierre, Julie, Waters, Paula J., Bates, Ian, Gris, Denis
الحاوية / القاعدة Microb Cell (2015)

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles

بواسطة Yang, Hao, Rossignol, Francis, Cyr, Denis, Laframboise, Rachel, Wang, Shu Pei, Soucy, Jean-François, Berthier, Marie-Thérèse, Giguère, Yves, Waters, Paula J., Mitchell, Grant A.
الحاوية / القاعدة Mol Genet Metab Rep (2017)

Newborn Screening for MCAD Deficiency: Experience of the First Three Years in British Columbia, Canada

بواسطة Horvath, Gabriella A., Davidson, A. G. F., Stockler-Ipsiroglu, Sylvia G., Lillquist, Yolanda P., Waters, Paula J., Olpin, S., Andresen, B. S., Palaty, Jan, Nelson, Judie, Vallance, Hilary
الحاوية / القاعدة Can J Public Health (2008)

Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective

بواسطة Thuriot, Fanny, Gravel, Elaine, Buote, Caroline, Doyon, Marianne, Lapointe, Elvy, Marcoux, Lydia, Larue, Sandrine, Nadeau, Amélie, Chénier, Sébastien, Waters, Paula J., Jacques, Pierre-Étienne, Gravel, Serge, Lévesque, Sébastien
الحاوية / القاعدة Neurol Genet (2020)

Versatile and robust genome editing with Streptococcus thermophilus CRISPR1-Cas9

بواسطة Agudelo, Daniel, Carter, Sophie, Velimirovic, Minja, Duringer, Alexis, Rivest, Jean-François, Levesque, Sébastien, Loehr, Jeremy, Mouchiroud, Mathilde, Cyr, Denis, Waters, Paula J., Laplante, Mathieu, Moineau, Sylvain, Goulet, Adeline, Doyon, Yannick
الحاوية / القاعدة Genome Res (2020)

Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment

بواسطة Waters, Paula J., Kitzler, Thomas M., Feigenbaum, Annette, Geraghty, Michael T., Al-Dirbashi, Osama, Bherer, Patrick, Auray-Blais, Christiane, Gravel, Serge, McIntosh, Nathan, Siriwardena, Komudi, Trakadis, Yannis, Brunel-Guitton, Catherine, Al-Hertani, Walla
الحاوية / القاعدة JIMD Rep (2017)

A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

بواسطة Thompson Legault, Julie, Strittmatter, Laura, Tardif, Jessica, Sharma, Rohit, Tremblay-Vaillancourt, Vanessa, Aubut, Chantale, Boucher, Gabrielle, Clish, Clary B., Cyr, Denis, Daneault, Caroline, Waters, Paula J., Vachon, Luc, Morin, Charles, Laprise, Catherine, Rioux, John D., Mootha, Vamsi K., Des Rosiers, Christine
الحاوية / القاعدة Cell Rep (2015)

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

بواسطة 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
الحاوية / القاعدة Orphanet J Rare Dis (2016)

Molecular and Clinical Genetics of Mitochondrial Diseases Due to POLG Mutations

بواسطة Wong, Lee-Jun C., Naviaux, Robert K., Brunetti-Pierri, Nicola, Zhang, Qing, Schmitt, Eric S., Truong, Cavatina, Milone, Margherita, Cohen, Bruce H., Wical, Beverly, Ganesh, Jaya, Basinger, Alice A., Burton, Barbara K., Swoboda, Kathryn, Gilbert, Donald L., Vanderver, Adeline, Saneto, Russell P., Maranda, Bruno, Arnold, Georgianne, Abdenur, Jose E., Waters, Paula J., Copeland, William C.
منشور في 2008

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

بواسطة McLarren, Keith W., Severson, Tesa M., du Souich, Christèle, Stockton, David W., Kratz, Lisa E., Cunningham, David, Hendson, Glenda, Morin, Ryan D., Wu, Diane, Paul, Jessica E., An, Jianghong, Nelson, Tanya N., Chou, Athena, DeBarber, Andrea E., Merkens, Louise S., Michaud, Jacques L., Waters, Paula J., Yin, Jingyi, McGillivray, Barbara, Demos, Michelle, Rouleau, Guy A., Grzeschik, Karl-Heinz, Smith, Raffaella, Tarpey, Patrick S., Shears, Debbie, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Arbour, Laura, Hurlburt, Jane, Van Allen, Margot I., Herman, Gail E., Zhao, Yongjun, Moore, Richard, Kelley, Richard I., Jones, Steven J.M., Steiner, Robert D., Raymond, F. Lucy, Marra, Marco A., Boerkoel, Cornelius F.
منشور في 2010