Results 201 to 210 of about 1,037,078 (360)
Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT
Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons +6 morewiley +1 more sourceInfantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio +15 morewiley +1 more sourceAdditional file 4 of DNA methylation and body mass index from birth to adolescence: meta-analyses of epigenome-wide association studies
, 2020 Florianne O. L. Vehmeijer, Leanne K. Küpers, Gemma C. Sharp, Lucas A. Salas, Samantha Lent, Dereje D. Jima, Gwen Tindula, Sarah E. Reese, Cancan Qi, Olena Gruzieva, Christian M. Page, Faisal I. Rezwan, Phillip E. Melton, Ellen A. Nøhr, Geòrgia Escaramís, Peter Rzehak, Anni Heiskala, Tong Gong, Samuli Tuominen, Lu Gao, Jason P. Ross, Anne P. Starling, John W. Holloway, Paul Yousefi, Gunn Marit Aasvang, Lawrence J. Beilin, Anna Bergström, Elisabeth B. Binder, Leda Chatzi, Eva Corpeleijn, Darina Czamara, Brenda Eskenazi, Susan Ewart, Natàlia Ferré, Veit Grote, Dariusz Gruszfeld, Siri E. Håberg, Cathrine Hoyo, Karen Huen, Robert Karlsson, Inger Kull, Jean‐Paul Langhendries, Johanna Lepeule, Maria C. Magnus, Rachel L. Maguire, Peter L. Molloy, Claire Monnereau, Trevor A. Mori, Emily Oken, Katri Räikkönen, Sheryl L. Rifas‐Shiman, Carlos Ruiz-Arenas, Sylvain Sebért, Vilhelmina Ullemar, Elvira Verduci, Judith M. Vonk, Cheng‐Jian Xu, Ivana V. Yang, Hongmei Zhang, Weimin Zhang, Wilfried Karmaus, Dana Dabelea, Beverly S. Mühlhäusler, Carrie V. Breton, Jari Lahti, Catarina Almqvist, Marjo‐Riitta Järvelin, Berthold Koletzko, Martine Vrijheid, Thorkild I. A. Sørensen, Rae‐Chi Huang, Syed Hasan Arshad, Wenche Nystad, Erik Melén, Gerard H. Koppelman, Stephanie J. London, Nina Holland, Mariona Bustamante, Susan K. Murphy, Marie‐France Hivert, Andrea Baccarelli, Caroline L. Relton, Harold Snieder, Vincent W. V. Jaddoe, Janine F. Felix +84 moreopenalex +1 more sourceErratum to: Health literacy in childhood and youth: a systematic review of definitions and models
BMC Public Health, 2017 Janine Bröder, Orkan Okan, Ullrich Bauer, Dirk Bruland, Sandra Schlupp, Torsten M. Bollweg, Luis Saboga-Nunes, Emma Bond, Kristine Sørensen, Eva-Maria Bitzer, Susanne Jordan, Olga Domanska, Christiane Firnges, Graça S. Carvalho, Uwe H. Bittlingmayer, Diane Levin-Zamir, Jürgen Pelikan, Diana Sahrai, Albert Lenz, Patricia Wahl, Malcolm Thomas, Fabian Kessl, Paulo Pinheiro +22 moredoaj +1 more source
