Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Hh, Arts"'
Autor:
Anju K Philips, Pinelli M, Ci, Bie, Mustonen A, Määttä T, Hh, Arts, Wu K, Roepman R, Js, Moilanen, Raza S, Varilo T, Scala G, Cocozza S, Gilissen C, Kl, Gassen, Järvelä I
Publikováno v:
Clinical Genetics, 91, 1, pp. 100-105
Europe PubMed Central
Clinical Genetics, 91, 100-105
Clinical Genetics, 91(1), 100. Wiley-Blackwell
Europe PubMed Central
Clinical Genetics, 91, 100-105
Clinical Genetics, 91(1), 100. Wiley-Blackwell
Contains fulltext : 169700.pdf (Publisher’s version ) (Closed access) Intellectual disability (ID) is a major health problem in our society. Genetic causes of ID remain unknown because of its vast heterogeneity. Here we report two Finnish families
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::018b7c0ed747049cc658a558594d7f84
https://hdl.handle.net/2066/169700
https://hdl.handle.net/2066/169700
Autor:
Alghaith FA; Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada., MacKay S; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada., Wallace K; Division of Ophthalmology, Department of Surgery, Dalhousie University, Halifax, Nova Scotia, Canada., Locke J; Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada., Robitaille JM; Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada., Dyack S; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.; Department of Pediatrics and Medicine, Dalhousie University, Halifax, Nova Scotia, Canada., Arts HH; Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.
Publikováno v:
Clinical genetics [Clin Genet] 2023 Dec; Vol. 104 (6), pp. 713-715. Date of Electronic Publication: 2023 Aug 23.
Autor:
Alghaith FA; Division of Clinical Genomics, Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada., Arts HH; Division of Clinical Genomics, Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada., Plourde FJ; Division of Medical Genetics, Maritime Medical Genetics Service, IWK Health Centre, Nova Scotia, Canada., Boswall A; Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada., Gulati P; Division of Neurology, Department of Pediatrics and Medicine, Dalhousie University, Halifax, Nova Scotia, Canada., McNeely PD; Division of Neurosurgery, Department of Surgery, Dalhousie University, Halifax, Nova Scotia, Canada., Acott PD; Division of Nephrology, Department of Surgery, Dalhousie University, Halifax, Nova Scotia, Canada., Wong KK; Division of Cardiology, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada., Dyack S; Division of Medical Genetics, Department of Pediatrics and Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Feb; Vol. 191 (2), pp. 554-558. Date of Electronic Publication: 2022 Oct 29.
Autor:
Gaudet MV; Centre de Formation Médicale du Nouveau-Brunswick (Moncton Univerisity), Moncton, New Brunswick, Canada., Allain EP; Medical Genetics, Vitalite Health Network, Moncton, New Brunswick, Canada.; Atlantic Cancer Research Institute, Moncton, New Brunswick, Canada., Gallant LM; Clinical Genomics Laboratory, IWK Health Centre, Halifax, Nova Scotia, Canada., Arts HH; Clinical Genomics Laboratory, IWK Health Centre, Halifax, Nova Scotia, Canada.; Pathology, Dalhousie University, Halifax, Nova Scotia, Canada., Ben Amor M; Medical Genetics, Vitalite Health Network, Moncton, New Brunswick, Canada mouna.benamor@vitalitenb.ca.
Publikováno v:
Journal of medical genetics [J Med Genet] 2023 Feb; Vol. 60 (2), pp. 134-136. Date of Electronic Publication: 2022 Jun 30.
Autor:
Walczak-Sztulpa J; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Wawrocka A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Sikora W; Students' Scientific Society of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Pawlak M; Department of Ophthalmology, Poznan University of Medical Sciences, Poznan, Poland., Bukowska-Olech E; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Kopaczewski B; Department of Neurosurgery, Karol Jonscher Clinical Hospital, Poznan University of Medical Sciences, Poznan, Poland., Urzykowska A; Department of Nephrology, Kidney Transplantation and Hypertension, The Children's Memorial Health Institute, Warsaw, Poland., Arts HH; Department of Pathology and Laboratory Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.; IWK Health Centre, Clinical Genomics Laboratory, Halifax, Nova Scotia, Canada., Gotz-Więckowska A; Department of Ophthalmology, Poznan University of Medical Sciences, Poznan, Poland., Grenda R; Department of Nephrology, Kidney Transplantation and Hypertension, The Children's Memorial Health Institute, Warsaw, Poland., Latos-Bieleńska A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Glazar R; Centers for Medical Genetics GENESIS, Poznan, Poland.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 3071-3077. Date of Electronic Publication: 2022 Jul 25.
Autor:
Walczak-Sztulpa J; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Wawrocka A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Stańczyk M; Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Pesz K; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland., Dudarewicz L; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Chrul S; Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Bukowska-Olech E; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Wieczorek-Cichecka N; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland., Arts HH; Department of Pathology and Laboratory Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.; IWK Health Centre, Clinical Genomics Laboratory, Halifax, Nova Scotia, Canada., Oud MM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Śmigiel R; Division of Pediatrics and Rare Disorders, Department of Pediatrics, Wroclaw Medical University, Wroclaw, Poland., Grenda R; Department of Nephrology, Kidney Transplantation and Hypertension, The Children's Memorial Health Institute, Warsaw, Poland., Obersztyn E; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Chrzanowska KH; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland., Latos-Bieleńska A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Apr; Vol. 185 (4), pp. 1195-1203. Date of Electronic Publication: 2021 Jan 09.
Autor:
Walczak-Sztulpa J; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Wawrocka A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Leszczynska B; Department of Pediatric Nephrology, Medical University of Warsaw, Warsaw, Poland., Mikulska B; Department of Obstetrics and Gynecology, Institute of Mother and Child, Warsaw, Poland., Arts HH; Department of Pathology and Laboratory Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.; IWK Health Centre, Clinical Genomics Laboratory, Halifax, Nova Scotia, Canada., Bukowska-Olech E; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Daniel M; Department of Pediatric Nephrology, Medical University of Warsaw, Warsaw, Poland., Krawczynski MR; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Latos-Bielenska A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Obersztyn E; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Oct; Vol. 182 (10), pp. 2417-2425. Date of Electronic Publication: 2020 Aug 17.
Autor:
Walczak-Sztulpa J; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-608, Poznan, Poland. jsztulpa@ump.edu.pl., Posmyk R; Department of Perinatology, Medical University of Bialystok, Bialystok, Poland., Bukowska-Olech EM; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-608, Poznan, Poland., Wawrocka A; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-608, Poznan, Poland., Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-608, Poznan, Poland., Oud MM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands., Schmidts M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Center for Pediatrics and Adolescent Medicine, Freiburg University Hospital, Freiburg University Faculty of Medicine, Freiburg, Germany., Arts HH; Department of Pathology and Laboratory Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.; IWK Health Centre, Clinical Genomics Laboratory, Halifax, Nova Scotia, Canada., Latos-Bielenska A; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-608, Poznan, Poland., Wasilewska A; Department of Pediatrics and Nephrology, Medical University of Bialystok, Bialystok, Poland.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Feb 01; Vol. 15 (1), pp. 36. Date of Electronic Publication: 2020 Feb 01.
Autor:
Arts HH; McMaster University, Department of Pathology and Molecular Medicine, 1280 Main Street West, L8S 4L8, Hamilton, ON, Canada., Lynch L; Juravinski Cancer Centre, Hamilton Health Sciences, 699 Concession Street, L8V 5C2, Hamilton, ON, Canada., Grafodatskaya D; McMaster University, Department of Pathology and Molecular Medicine, 1280 Main Street West, L8S 4L8, Hamilton, ON, Canada; Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, 1200 Main Street West, L8S 4J9, Hamilton, ON, Canada., Eng B; Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, 1200 Main Street West, L8S 4J9, Hamilton, ON, Canada., Malloy L; Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, 1200 Main Street West, L8S 4J9, Hamilton, ON, Canada., Duck J; Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, 1200 Main Street West, L8S 4J9, Hamilton, ON, Canada., White R; Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, 1200 Main Street West, L8S 4J9, Hamilton, ON, Canada., Woodside C; Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, 1200 Main Street West, L8S 4J9, Hamilton, ON, Canada., Bell K; Juravinski Cancer Centre, Hamilton Health Sciences, 699 Concession Street, L8V 5C2, Hamilton, ON, Canada; Department of Oncology, McMaster University, 699 Concession Street, L8V 5C2, Hamilton, ON, Canada., Zbuk KM; Juravinski Cancer Centre, Hamilton Health Sciences, 699 Concession Street, L8V 5C2, Hamilton, ON, Canada; Department of Oncology, McMaster University, 699 Concession Street, L8V 5C2, Hamilton, ON, Canada., McCready E; McMaster University, Department of Pathology and Molecular Medicine, 1280 Main Street West, L8S 4L8, Hamilton, ON, Canada; Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, 1200 Main Street West, L8S 4J9, Hamilton, ON, Canada. Electronic address: mccready@hhsc.ca.
Publikováno v:
Cancer genetics [Cancer Genet] 2020 Jan; Vol. 240, pp. 1-4. Date of Electronic Publication: 2019 Oct 12.
Autor:
Stokman MF; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van der Zwaag B; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van de Kar NCAJ; Department of Pediatric Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands., van Haelst MM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands., van Eerde AM; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van der Heijden JW; Department of Nephrology, VU University Medical Center, Amsterdam, The Netherlands., Kroes HY; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Ippel E; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Schulp AJA; Department of Pediatric Nephrology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands., van Gassen KL; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van Rooij IALM; Radboud Institute for Health Sciences, Department for Health Evidence, Radboud University Medical Center, Nijmegen, The Netherlands., Giles RH; Department of Nephrology and Hypertension, University Medical Center Utrecht, Regenerative Medicine Center, University of Utrecht, Utrecht, The Netherlands., Beales PL; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Roepman R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Arts HH; Department of Pathology and Molecular Medicine, Hamilton Health Sciences, McMaster University, West Hamilton, Canada., Bongers EMHF; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Renkema KY; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Knoers NVAM; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands. V.V.A.Knoers@umcutrecht.nl., van Reeuwijk J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Lilien MR; Department of Pediatric Nephrology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
Publikováno v:
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2018 Oct; Vol. 33 (10), pp. 1701-1712. Date of Electronic Publication: 2018 Jul 05.