Zoekresultaten - Parboosingh, Jillian S

“Devolution” of bipedality door Herz, Joachim, Boycott, Kym M., Parboosingh, Jillian S.

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Pathogenicity of two COQ7 mutations and responses to 2,4‐dihydroxybenzoate bypass treatment door Wang, Ying, Smith, Christopher, Parboosingh, Jillian S., Khan, Aneal, Innes, Micheil, Hekimi, Siegfried

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Optimizing genotype quality metrics for individual exomes and cohort analysis door Gordon, Paul MK, Dimnik, Leo, Lamont, Ryan, Innes, Micheil, Bernier, Francois, Parboosingh, Jillian

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A 52-year-old man with cognitive decline, seizure and stroke door Simon, Jessica E., Parboosingh, Jillian, Clark, Arthur, George, David, Lafontaine, Anne-Louise, Hill, Michael D.

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Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia with Mental Retardation (Dysequilibrium Syndrome) door Boycott, Kym M, Bonnemann, Carsten, Herz, Joachim, Neuert, Stephanie, Beaulieu, Chandree, Scott, James N, Venkatasubramanian, Anuradha, Parboosingh, Jillian S

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Effects of Six-Month Aerobic Exercise Intervention on Sleep in Healthy Older Adults in the Brain in Motion Study: A Pilot Study door Guadagni, Veronica, Clark, Cameron M., Tyndall, Amanda, Raneri, Jill K., Parboosingh, Jillian S., Hogan, David B., Hanly, Patrick J., Poulin, Marc J.

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Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population door Triggs‐Raine, Barbara, Dyck, Tamara, Boycott, Kym M., Innes, A. Micheil, Ober, Carole, Parboosingh, Jillian S., Botkin, Alexis, Greenberg, Cheryl R., Spriggs, Elizabeth L.

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CCMG practice guideline: laboratory guidelines for next-generation sequencing door Hume, Stacey, Nelson, Tanya N, Speevak, Marsha, McCready, Elizabeth, Agatep, Ron, Feilotter, Harriet, Parboosingh, Jillian, Stavropoulos, Dimitri J, Taylor, Sherryl, Stockley, Tracy L

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Evidence of association between sleep quality and APOE ε4 in healthy older adults: A pilot study door Drogos, Lauren L., Gill, Stephanie J., Tyndall, Amanda V., Raneri, Jill K., Parboosingh, Jillian S., Naef, Aileen, Guild, Kyle D., Eskes, Gail, Hanly, Patrick J., Poulin, Marc J.

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Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo door Blackwell, Danielle L, Fraser, Sherri D, Caluseriu, Oana, Vivori, Claudia, Tyndall, Amanda V, Lamont, Ryan E, Parboosingh, Jillian S, Innes, A Micheil, Bernier, François P, Childs, Sarah J

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Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification door Boycott, Kym M., Flavelle, Shauna, Bureau, Alexandre, Glass, Hannah C., Fujiwara, T. Mary, Wirrell, Elaine, Davey, Krista, Chudley, Albert E., Scott, James N., McLeod, D. Ross, Parboosingh, Jillian S.

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Genetic Risk, Vascular Function, and Subjective Cognitive Complaints Predict Objective Cognitive Function in Healthy Older Adults: Results From the Brain in Motion Study door Tyndall, Amanda V., Longman, R. Stewart, Sajobi, Tolulope T., Parboosingh, Jillian S., Drogos, Lauren L., Davenport, Margie H., Eskes, Gail A., Hogan, David B., Hill, Michael D., Poulin, Marc J.

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GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Cau... door Au, P.Y. Billie, You, Jing, Caluseriu, Oana, Schwartzentruber, Jeremy, Majewski, Jacek, Bernier, Francois P., Ferguson, Marcia, Valle, David, Parboosingh, Jillian S., Sobreira, Nara, Innes, A. Micheil, Kline, Antonie D.

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Practice guidelines for BRCA1/2 tumour testing in ovarian cancer door Grafodatskaya, Daria, O’Rielly, Darren D, Bedard, Karine, Butcher, Darci T, Howlett, Christopher J, Lytwyn, Alice, McCready, Elizabeth, Parboosingh, Jillian, Spriggs, Elizabeth L, Vaags, Andrea K, Stockley, Tracy L

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Neurofibromatosis type 2 appears to be a genetically homogeneous disease door Narod, Steven A., Parry, Dilys M., Parboosingh, Jillian, Lenoir, Gilbert M., Ruttledge, Martin, Fischer, Georges, Eldridge, Roswell, Martuza, Robert L., Frontali, Marina, Haines, Jonathan, Gusella, James F., Rouleau, Guy A.

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A Shared Founder Mutation Underlies Restrictive Dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite Patients in North America door Loucks, Catrina, Parboosingh, Jillian S., Chong, Jessica X., Ober, Carole, Siu, Victoria M., Hegele, Robert A., Rupar, C. Anthony, McLeod, D. Ross, Pinto, Alfredo, Chudley, Albert E., Innes, A. Micheil

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The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing door Zhou, Janet R., Ridsdale, Ross, MacNeil, Lauren, Lilley, Margaret, Hoang, Stephanie, Christian, Susan, Blumenschein, Pamela, Wolan, Vanessa, Bruce, Aisha, Singh, Gurpreet, Wright, Nicola, Parboosingh, Jillian S., Lamont, Ryan E., Sosova, Iveta

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A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency door Buchert, Rebecca, Tawamie, Hasan, Smith, Christopher, Uebe, Steffen, Innes, A. Micheil, Al Hallak, Bassam, Ekici, Arif B., Sticht, Heinrich, Schwarze, Bernd, Lamont, Ryan E., Parboosingh, Jillian S., Bernier, Francois P., Abou Jamra, Rami

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Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial and ectodermal anomalies door Loucks, Catrina M., Parboosingh, Jillian S., Shaheen, Ranad, Bernier, Francois P., McLeod, D. Ross, Seidahmed, Mohammed Z., Puffenberger, Erik G., Ober, Carole, Hegele, Robert A., Boycott, Kym M., Alkuraya, Fowzan S., Innes, A. Micheil

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An Algorithm Measuring Donor Cell-Free DNA in Plasma of Cellular and Solid Organ Transplant Recipients That Does Not Require Donor or Recipient Genotyping door Gordon, Paul M. K., Khan, Aneal, Sajid, Umair, Chang, Nicholas, Suresh, Varun, Dimnik, Leo, Lamont, Ryan E., Parboosingh, Jillian S., Martin, Steven R., Pon, Richard T., Weatherhead, Jene, Wegener, Shelly, Isaac, Debra, Greenway, Steven C.

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