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Insights into genetic assistant practice and the workforce in North America.

Autor: Krutish A; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.; Children's Hospital Research Institute of Manitoba, Winnipeg, Manitoba, Canada., Liu XQ; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.; Children's Hospital Research Institute of Manitoba, Winnipeg, Manitoba, Canada.; Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Kelly C; Department of Community Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Chin SR; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Hartley JN; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.; Children's Hospital Research Institute of Manitoba, Winnipeg, Manitoba, Canada.

Publikováno v: Journal of genetic counseling [J Genet Couns] 2024 Apr; Vol. 33 (2), pp. 281-290. Date of Electronic Publication: 2023 Apr 27.

Exploring the role of a multidisciplinary hereditary gynecologic oncology clinic in epithelial ovarian cancer risk-reducing surgical decision-making practices: A mixed-methods study.

Autor: Casalino S; Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.; Pathology and Laboratory Medicine, Sinai Health, Toronto, Ontario, Canada., Bruce S; Community Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Serfas K; Shared Health Program of Genetics and Metabolism, Health Sciences Centre, Winnipeg, Manitoba, Canada., Altman AD; Obstetrics, Gynecology and Reproductive Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; CancerCare Manitoba Research Institute, CancerCare Manitoba, Winnipeg, Manitoba, Canada., Kean S; Obstetrics, Gynecology and Reproductive Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; CancerCare Manitoba Research Institute, CancerCare Manitoba, Winnipeg, Manitoba, Canada., Lambert P; CancerCare Manitoba Research Institute, CancerCare Manitoba, Winnipeg, Manitoba, Canada.; Epidemiology and Cancer Registry, CancerCare Manitoba, Winnipeg, Manitoba, Canada., McManus KJ; Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.; CancerCare Manitoba Research Institute, CancerCare Manitoba, Winnipeg, Manitoba, Canada., Hartley JN; Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Nachtigal MW; Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.; Obstetrics, Gynecology and Reproductive Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; CancerCare Manitoba Research Institute, CancerCare Manitoba, Winnipeg, Manitoba, Canada.

Publikováno v: Journal of genetic counseling [J Genet Couns] 2023 Jun; Vol. 32 (3), pp. 728-743. Date of Electronic Publication: 2023 Feb 20.

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.

Autor: Whalen S; UF de Génétique Clinique et Centre de Reference Anomalies du Développement et Syndromes Malformatifs, APHP, Sorbonne Université, Hôpital Trousseau, Paris, France. Sandra.whalen@aphp.fr., Shaw M; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia., Mignot C; Département de Génétique et de Cytogénétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP, Sorbonne Université, Paris, France., Héron D; Département de Génétique et de Cytogénétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP, Sorbonne Université, Paris, France., Bastaraud SC; Département de Génétique, UF de Génétique Chromosomique, APHP, Hôpital Armand Trousseau, Paris, France., Walti CC; Institut Jérôme Lejeune, Paris, France.; IUSSS de l'Estrie-CHUS Université de Sherbrooke, Sherbrooke, QC, Canada., Liebelt J; South Australian Clinical Genetics Service, Women's and Children's Hospital, Adelaide, SA, Australia., Elmslie F; South West Thames Regional Genetics Service, St George's University Hospitals, London, UK., Yap P; Genetic Health Service New Zealand (Northern Hub), Auckland, New Zealand., Hurst J; Department of Clinical Genetics, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK., Forsythe E; Department of Clinical Genetics, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK., Kirmse B; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA., Ozmore J; Medical Genetics, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA., Spinelli AM; Medical Genetics Unit, University of Modena and Reggio Emilia, Modena, Italy., Calabrese O; Medical Genetics Unit, University of Modena and Reggio Emilia, Modena, Italy., de Villemeur TB; Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, APHP, SU, Inserm, Paris, France., Tabet AC; UF de Cytogénétique, Département de Génétique, APHP, Hôpital Robert Debré, Paris, France., Levy J; UF de Cytogénétique, Département de Génétique, APHP, Hôpital Robert Debré, Paris, France., Guet A; Service de Néonatologie et Pédiatrie, APHP, Hôpital Louis-Mourier, Colombes, France., Kossorotoff M; Département de Neurologie Pédiatrique, AP-HP, Hôpital Necker-Enfants-Malades, Paris, France., Kamien B; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia., Morton J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., McCabe A; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., Brischoux-Boucher E; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France., Raas-Rothschild A; Institute for Rare Diseases, Edmond and Lily Safra Children Hospital, Sheba Medical Center, Ramat Gan, Israel., Pini A; Child Neurology and Psychiatry Unit, IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy., Carroll R; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia., Hartley JN; Biochemistry & Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada., Frosk P; Biochemistry & Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada., Slavotinek A; Medical Genetics, Benioff Children's Hospital Oakland, Division of Genetics, Department of Pediatrics, University of California, UCSF Benioff Children's Hospital, San Francisco, CA, USA., Truxal K; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital and Research Institute, The Ohio State University, Columbus, OH, USA., Jennifer C; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital and Research Institute, The Ohio State University, Columbus, OH, USA., Dheedene A; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Cui H; GeneDx, Gaithersburg, MD, USA., Kumar V; Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, USA.; Zuckerberg San Francisco General Hospital and Trauma Center, San Francisco, CA, USA., Thomson G; Department of Paediatric Radiology, Starship Children's Hospital, Auckland, New Zealand., Riccardi F; Département de génétique médicale, AP-HM, Hôpital d'enfants La Timone, Marseille, France.; Aix Marseille Université, Inserm, MMG, Marseille, France., Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA, Australia., Villard L; Département de génétique médicale, AP-HM, Hôpital d'enfants La Timone, Marseille, France.; Aix Marseille Université, Inserm, MMG, Marseille, France.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Sep; Vol. 29 (9), pp. 1405-1417. Date of Electronic Publication: 2021 Feb 18.

Reflex Seizures in a Patient with CDKL5 Deficiency Disorder.

Autor: Peikes T; Department of Pediatrics and Child Health, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Hartley JN; Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Mhanni AA; Department of Pediatrics and Child Health, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Greenberg CR; Department of Pediatrics and Child Health, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Appendino JP; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.

Publikováno v: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques [Can J Neurol Sci] 2019 Jul; Vol. 46 (4), pp. 482-485. Date of Electronic Publication: 2019 Apr 29.