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Journal Article
Journal Article
CANADIAN FAMILY PHYSICIAN, ISSN 0008-350X, 04/2019, Volume 65, Issue Suppl 1, pp. S25 - S26
Journal Article
Journal of Autism and Developmental Disorders, ISSN 0162-3257, 7/2012, Volume 42, Issue 7, pp. 1459 - 1469
Journal Article
Canadian Family Physician, ISSN 0008-350X, 04/2018, Volume 64, Issue Suppl 2, pp. S51 - S56
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2011, Volume 19, Issue 12, pp. 1264 - 1270
Journal Article
by Lebo, Matthew S and Zakoor, Kathleen-Rose and Chun, Kathy and Speevak, Marsha D and Waye, John S and McCready, Elizabeth and Parboosingh, Jillian S and Lamont, Ryan E and Feilotter, Harriet and Bosdet, Ian and Tucker, Tracy and Young, Sean and Karsan, Aly and Charames, George S and Agatep, Ronald and Spriggs, Elizabeth L and Chisholm, Caitlin and Vasli, Nasim and Daoud, Hussein and Jarinova, Olga and Tomaszewski, Robert and Hume, Stacey and Taylor, Sherryl and Akbari, Mohammad R and Lerner-Ellis, Jordan and Ainsworth, Peter and Aronson, Melyssa and Basran, Raveen and Blavier, Andre and Blumenthal, Andrea and Boycott, Kym and Brudno, Michael and Buckley, Kathleen and Campbell, Jodi and Campeau, Philippe M and Care, Melanie and Carson, Nancy and Carter, Ronald and Chitayat, David and Chong, George and Chouinard, Edmond and Craddock, Kenneth J and Docking, Rod and Eisen, Andrea and Faghfoury, Hanna and Farrell, Sandra and Fernandez, Bridget and Fiume, Marc and Forster-Gibson, Cynthia and Friedman, Jan and Foulkes, William and Goodhand, Peter and Gu, Jessica and Hegele, Robert and Holter, Spring and Horsburgh, Sheri and Hughes, Lauren and Jewett, Franny and Junker, Anne and Khalouei, Sam and Knoll, Joan and Kolomeitz, Elena and Knoppers, Bartha and Maire, Georges and Marshall, Christian and Mitchell, Grant and Moorhouse, Michael J and Morel, Chantal and Nelson, Tanya and Noor, Abdul and O'Connor, Brian and O'Rielly, Darren and Ouellette, Francis and Racher, Hilary and Ray, Peter and Rehm, Heidi and Riddell, Christie and Riviere, Jean-Baptiste and Rosenblatt, David S and Rouleau, Guy and Ruchon, Andrea and Sabatini, Peter and Sadikovic, Bekim and Semotiuk, Kara and Scherer, Stephen W and Shuman, Cheryl and Silver, Josh and Siminovitch, Katherine and Solomon-Izsak, Lesley and Soucy, Jean-Francois and Stavropoulos, James and Stein, Lincoln and Tannenbaum, Rhonda and Terespolsky, Deborah and Wintle, Richard F and Wong, Beatrix and Wong, Nora and Wang, Marina and Watkins, Nicholas and White, Shana and ... and Canadian Open Genetics Repository and Canadian Open Genetics Repository Working Group and the Canadian Open Genetics Repository Working Group
Genetics in Medicine, ISSN 1098-3600, 03/2018, Volume 20, Issue 3, pp. 294 - 302
Purpose: The purpose of this study was to develop a national program for Canadian diagnostic laboratories to compare DNA-variant interpretations and resolve... 
breast cancer | BRCA1 | BRCA2 | variant interpretation and classification | data sharing | GUIDELINES | STANDARDS | DATABASES | GENOMICS | RECOMMENDATIONS | GENETICS & HEREDITY | LABORATORIES | CLINICAL-SIGNIFICANCE | RESOURCE | Laboratories
Journal Article
Canadian Family Physician, ISSN 0008-350X, 11/2006, Volume 52, Issue 11, pp. 1410 - 1418
OBJECTIVE To develop practical Canadian guidelines for primary health care providers based on the best available evidence for addressing health issues in... 
INTELLECTUAL DISABILITY | INDIVIDUALS | MEDICATION | POPULATION | MEDICINE, GENERAL & INTERNAL | MANAGEMENT | MENTAL-RETARDATION | DISEASE | PEOPLE | PREVALENCE | CHALLENGES | Health Services Needs and Demand | Health Status | Health Services Accessibility | Humans | Primary Health Care - standards | Intellectual Disability - epidemiology | CME
Journal Article
Journal of Autism and Developmental Disorders, ISSN 0162-3257, 07/2012, Volume 42, Issue 7, p. 1459
Duplications of 7q11.23, deleted in Williams-Beuren Syndrome, have been implicated in autism spectrum disorders (ASDs). A 1.5 Mb duplication was identified in... 
Interaction | Risk | Genetic Disorders | Expressive Language | Interpersonal Relationship | Autism | Etiology | Behavior Problems | Pervasive Developmental Disorders | Language Impairments | Genetics | Anxiety | Antisocial Behavior | Symptoms (Individual Disorders)
Journal Article
Clinical Genetics, ISSN 0009-9163, 06/2001, Volume 59, Issue 6, pp. 438 - 443
We describe an adult male who was diagnosed with Down syndrome (DS) at 9 months of age, but had repeatedly normal karyotypes until recent mid-resolution... 
CGH | 21q duplication | Down syndrome | CHROMOSOME-21 | GENETICS & HEREDITY | REGION | Gene Duplication | Phenotype | Humans | Down Syndrome - genetics | Adult | Genotype | In Situ Hybridization, Fluorescence | Male | Chromosomes, Human, Pair 21
Journal Article
Clinical Genetics, ISSN 0009-9163, 06/2001, Volume 59, Issue 6, pp. 438 - 443
Journal Article
Human Genetics, ISSN 0340-6717, 03/1988, Volume 78, Issue 3, pp. 201 - 205
A multilocus analysis of the fragile X (fra(X] syndrome was conducted with 147 families. Two proximal loci, DXS51 and F9, and two distal loci, DXS52 and DXS15,... 
DNA - genetics | Fragile X Syndrome - genetics | Genetic Variation | Pedigree | Humans | Female | Male | Chromosome Mapping | Sex Chromosome Aberrations - genetics | Software | Genetic Markers | Genetic Linkage
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 1985, Volume 37, Issue 3, pp. 463 - 472
We have tested linkage between the locus for the fragile-X [fra(X)] syndrome at Xq27.3 and five polymorphic restriction sites identified by four DNA probes... 
GENETICS & HEREDITY | Fragile X Syndrome - genetics | Cricetinae | Nucleic Acid Hybridization | Cricetulus | Humans | Hybrid Cells | Male | Chromosome Mapping | Sex Chromosome Aberrations - genetics | Genetic Markers | Lod Score | Polymorphism, Genetic | DNA - genetics | Animals | DNA Restriction Enzymes | Pedigree | X Chromosome | Female | Genetic Linkage
Journal Article