Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Sue Routledge"'
Autor:
David A. Sweetser, S.R.J.M. Deckers, Marina Macchiaiolo, Jannine D. Cody, Dagmar R J Kempink, Sarah H. Elsea, Carol J Saunders, Ronald L. Thibert, Emilia K. Bijlsma, Marcella Zollino, Channa F. de Winter, Agnieszka Stembalska, Vittoria Lamacchia, Anusha Gandhi, Ingrid Benoist, Sandra Whalen, Ann Nordgren, Giuseppe Marangi, Frea H. Kruisinga, Leonie A. Menke, Joseph T. Alaimo, Alessandra Renieri, Sylvia A. Huisman, Jill Clayton-Smith, Sue Routledge, Robert Smigiel, Ingrid D. C. van Balkom, Christiane Zweier, Hans van Balkom, Paul A. Mulder, Irina Giurgea, Raoul C.M. Hennekam
Publikováno v:
Clinical Genetics, 95, 4, pp. 462-478
Clinical Genetics, 95, 462-478
Clinical Genetics, 95(4), 462-478. WILEY
Clinical Genetics, 95(4), 462-478. Wiley-Blackwell Publishing Ltd
Clinical Genetics
Clinical Genetics, 2019, 95 (4), pp.462-478. ⟨10.1111/cge.13506⟩
Clinical Genetics, 95, 462-478
Clinical Genetics, 95(4), 462-478. WILEY
Clinical Genetics, 95(4), 462-478. Wiley-Blackwell Publishing Ltd
Clinical Genetics
Clinical Genetics, 2019, 95 (4), pp.462-478. ⟨10.1111/cge.13506⟩
Item does not contain fulltext Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial features, and marked autonomic nervous system dysfunction, especially with disturbances of regulati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dd9d33ca99272aa8120db98571c744a
http://hdl.handle.net/11365/1126835
http://hdl.handle.net/11365/1126835
Autor:
Channa F. de Winter, Raoul C.M. Hennekam, Emilia K. Bijlsma, Sue Routledge, Melanie A. M. Baas, John van Heukelingen
Publikováno v:
Orphanet journal of rare diseases, 11(1). BioMed Central
Orphanet Journal of Rare Diseases, 11
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 11
Orphanet Journal of Rare Diseases
Background Pitt-Hopkins syndrome (PTHS; MIM# 610954) is a genetically determined entity mainly caused by mutations in TransCription Factor 4 (TCF4). We have developed a new way to collect information on (ultra-)rare disorders through a web-based data
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff3272a2dd6b5845a2062b4e31babe5c
https://pure.amc.nl/en/publications/phenotype-and-natural-history-in-101-individuals-with-pitthopkins-syndrome-through-an-internet-questionnaire-system(8e641a86-d26c-4f5a-aa4e-8bbc547db13c).html
https://pure.amc.nl/en/publications/phenotype-and-natural-history-in-101-individuals-with-pitthopkins-syndrome-through-an-internet-questionnaire-system(8e641a86-d26c-4f5a-aa4e-8bbc547db13c).html