Editorial: Advancing our understanding of the genetic and functional basis of skeletal dysplasia

por Guo, Long, Qiang, Rong, Zhang, Yi, Simsek-Kiper, Pelin Ozlem
Publicado 2023

A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome

por Doğan, Özlem Akgün, Şimşek Kiper, Pelin Özlem, Utine, Gülen Eda, Alikaşifoğlu, Mehmet, Boduroğlu, Koray
Publicado 2017

Cockayne syndrome type 3 with dystonia‐ataxia and clicking blinks

por Gültekin‐Zaim, Özge Berna, Yalçın‐Çakmaklı, Gül, Çolpak, Ayşe İlksen, Şimşek‐Kiper, Pelin Özlem, Utine, Gülen Eda, Elibol, Bülent
Publicado 2023

Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review

por Güvenoğlu, Merve, Şimşek-Kiper, Pelin Özlem, Koşukcu, Can, Taskiran, Ekim Z., Saltık-Temizel, İnci Nur, Gucer, Safak, Utine, Eda, Boduroğlu, Koray
Publicado 2022

Obstructive sleep apnea in children with Down syndrome: is it possible to predict severe apnea?

por Hizal, Mina, Satırer, Ozlem, Polat, Sanem Eryilmaz, Tural, Dilber Ademhan, Ozsezen, Beste, Sunman, Birce, Karahan, Sevilay, Emiralioglu, Nagehan, Simsek-Kiper, Pelin Ozlem, Utine, Gulen Eda, Boduroglu, Koray, Yalcin, Ebru, Dogru, Deniz, Kiper, Nural, Ozcelik, Ugur
Publicado 2021

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

por O’Donohue, Marie-Françoise, Da Costa, Lydie, Lezzerini, Marco, Unal, Sule, Joret, Clément, Bartels, Marije, Brilstra, Eva, Scheijde-Vermeulen, Marijn, Wacheul, Ludivine, De Keersmaecker, Kim, Vereecke, Stijn, Labarque, Veerle, Saby, Manon, Lefevre, Sophie D., Platon, Jessica, Montel-Lehry, Nathalie, Laugero, Nathalie, Lacazette, Eric, van Gassen, Koen, Houtkooper, Riekelt H., Simsek-Kiper, Pelin Ozlem, Leblanc, Thierry, Yarali, Nese, Cetinkaya, Arda, Akarsu, Nurten A., Gleizes, Pierre-Emmanuel, Lafontaine, Denis L. J., MacInnes, Alyson W.
Publicado 2022

Further delineation of the KAT6B molecular and phenotypic spectrum

por Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan FM, Smith, Janine, Clayton-Smith, Jill
Publicado 2015