Caring for a child with Bardet-Biedl syndrome: A qualitative study of the parental experiences of daily coping and support

Autor: Zelihić, Deniz, Hjardemaal, Finn R., Lippe, Charlotte von der

Publikováno v: In European Journal of Medical Genetics April 2020 63(4)

sj-pdf-1-qhr-10.1177_1049732320967908 – Supplemental material for Primary Immunodeficiency Diseases and Gastrointestinal Distress: Coping Strategies and Dietary Experiences to Relieve Symptoms

Autor: Brede, Katrine K., Wandel, Margareta, Wiig, Ingrid, Lippe, Charlotte Von Der

Supplemental material, sj-pdf-1-qhr-10.1177_1049732320967908 for Primary Immunodeficiency Diseases and Gastrointestinal Distress: Coping Strategies and Dietary Experiences to Relieve Symptoms by Katrine K. Brede, Margareta Wandel, Ingrid Wiig and Cha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::219222613f126c5758bd41caad93e7ee

HUWE1variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

Autor: Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola, Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn, Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju, Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew, Wilson, Louise, Yuen, Amy, Study, DDD, Low, Karen, Newbury-Ecob, Ruth

Publikováno v: European Journal of Human Genetics: EJHG; January 2018, Vol. 26 Issue: 1 p64-74, 11p

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

Autor: Moortgat S; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi (Gosselies), Belgium. stephanie.moortgat@ipg.be., Berland S; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway., Aukrust I; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway., Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi (Gosselies), Belgium., Baker L; Department of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE, USA., Benoit V; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi (Gosselies), Belgium., Caro-Llopis A; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Cooper NS; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Debray FG; Department of Medical Genetics, CHU Sart-Tilman, Liège, Belgium., Faivre L; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies Du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France., Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Haukanes BI; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway., Houge G; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway., Kivuva E; Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, EX1 2ED, UK., Martinez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Mehta SG; East Anglian Medical Genetics Service, Cambridge, UK., Nassogne MC; Département de Neuropédiatrie, Cliniques Universitaires Saint-Luc, Brussels, 1200, Belgium., Powell-Hamilton N; Department of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE, USA., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Rosello M; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Prescott T; Department of Medical Genetics, Telemark Hospital, Skien, Norway., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Leicester, UK., van Loon B; Department of Cancer Research and Molecular Medicine, Faculty of Medicine and Health Sciences, NTNU, Trondheim, Norway., Verellen-Dumoulin C; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi (Gosselies), Belgium., Verloes A; Department of Genetics, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Paris, France., Lippe CV; Departement of Medical Genetics, Trondheim University Hospital, Trondheim, Norway., Wakeling E; North West Thames Regional Genetics Service, London North West Hospitals NHS Trust, Harrow, UK., Wilkie AOM; Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Wilson L; Clinical Genetics, Great Ormond Street Hospital for Children NHS foundation Trust, London, UK., Yuen A; Genomics Institute, MultiCare Health System, Tacoma, WA, USA., Study D; Wellcome Trust Sanger Institute, Cambridgeshire, UK., Low KJ; University Hospitals Bristol NHS Trust/University of Bristol, Bristol, UK., Newbury-Ecob RA; University Hospitals Bristol NHS Trust/University of Bristol, Bristol, UK.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2018 Jan; Vol. 26 (1), pp. 64-74. Date of Electronic Publication: 2017 Nov 27.