Zobrazeno 1 - 3
of 3
pro vyhledávání: '"David Tilstra"'
Autor:
Mónica García-Pérez, Alexandra De Kesel Lofthus, David Tilstra, Kevin Switzer, Kristen Williamson
Publikováno v:
Diabetology, Vol 5, Iss 1, Pp 110-128 (2024)
The number of food-insecure individuals with diabetes is on the rise. FOODRx is a supplemental healthy food intervention program that gave disease-appropriate food boxes to food-insecure patients with diabetes at their care clinic and included nutrit
Externí odkaz:
https://doaj.org/article/a0d75061dce64eacbd7350b505c90ec7
Autor:
Cynthia J. Curry, Margarita Raygada, Raoul C.M. Hennekam, Virginia Kimonis, John M. Graham, Alexa Kidd, David J. Amor, Helen Murphy, Annmarie Sommer, Salim Aftimos, Maureen Bocian, Amy Shealy, Michael T. Gabbett, Graeme C.M. Black, Susan Tomkins, Lakshmi Mehta, Bernhard Zabel, Michael Field, Joyce T. Turner, Margot I. Van Allen, Mark J. Stephan, Wendy E. Smith, Sally Ann Lynch, David Tilstra, Janice Zunich, Anne Chun Hui Tsai, Alan F. Rope, Pradeep Vasudevan, Kenneth N. Rosenbaum, Robert J. Hopkin, Julie C. Sapp, Moran Gal, Kyrieckos A. Aleck, Hülya Kayserili, Jennifer J. Johnston, Angela E. Lin, Julie McGaughran, Leslie G. Biesecker, G. Bradley Schaefer, Ruth Day, Joann Bodurtha, Ikuma Fujiwara, Heather J. Stalker, Dian Donnai, Melissa K. Maisenbacher, Peter Hedera, Maria Soller, Sahar Mansour, Nathaniel H. Robin, Joseph H. Hersh, Pamela Trapane, Gerald F. Cox, Bernhard Steiner
Publikováno v:
Human mutation, 31(10), 1142-1154. Wiley-Liss Inc.
A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 17
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9fbdce47ec67c7da912bab79883e550
https://doi.org/10.1002/humu.21328
https://doi.org/10.1002/humu.21328
Autor:
Inge Francois, Sandra Meulemans, Gert Matthijs, David Tilstra, Raoul Rooman, Inge Heulens, John W.M. Creemers, Francis de Zegher, K Martens, Jaak Jaeken, Marco Zaffanello, Frederik J. Hes
Publikováno v:
European journal of human genetics
Hypotonia-cystinuria syndrome (HCS) is a recessive disorder caused by microdeletions of SLC3A1 and PREPL on chromosome 2p21. Patients present with generalized hypotonia at birth, failure to thrive, growth retardation and cystinuria type I. While the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c27fa91647cd7063f1789bd265935e3c
http://hdl.handle.net/11562/308169
http://hdl.handle.net/11562/308169
