Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient

by Hülya Kayserili, Piranit Nik Kantaputra
Published 2018

Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation

by Yeliz Guven, Umut Altunoglu, Oya Aktoren, Zehra Oya Uyguner, Hulya Kayserili, Massupa Kaewkahya, Piranit Nik Kantaputra
Published 2018

Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation

by Yeliz Guven, Umut Altunoglu, Oya Aktoren, Zehra Oya Uyguner, Hulya Kayserili, Massupa Kaewkahya, Piranit Nik Kantaputra
Published 2018

Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation

by Piranit Nik Kantaputra, Chotika Bongkochwilawan, Massupa Kaewgahya, Atsushi Ohazama, Hulya Kayserili, Arzu Pinar Erdem, Oya Aktoren, Yeliz Guven
Published 2018

Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI

by Piranit Nik Kantaputra, Hülya Kayserili, Yeliz Güven, Warissara Kantaputra, Mehmet C. Balci, Pranoot Tanpaiboon, Anusha Uttarilli, Ashwin Dalal
Published 2018

Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation

by Piranit Nik Kantaputra, Chotika Bongkochwilawan, Massupa Kaewgahya, Atsushi Ohazama, Hulya Kayserili, Arzu Pinar Erdem, Oya Aktoren, Yeliz Guven
Published 2018

Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI

by Piranit Nik Kantaputra, Hülya Kayserili, Yeliz Güven, Warissara Kantaputra, Mehmet C. Balci, Pranoot Tanpaiboon, Anusha Uttarilli, Ashwin Dalal
Published 2018

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations

by Piranit Nik Kantaputra, Hulya Kayserili, Yeliz Guven, Warissara Kantaputra, Mehmet C. Balci, Pranoot Tanpaiboon, Napaporn Tananuvat, Anusha Uttarilli, Ashwin Dalal
Published 2018

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations

by Piranit Nik Kantaputra, Hulya Kayserili, Yeliz Guven, Warissara Kantaputra, Mehmet C. Balci, Pranoot Tanpaiboon, Napaporn Tananuvat, Anusha Uttarilli, Ashwin Dalal
Published 2018

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

by Christopher T. Gordon, Shifeng Xue, Gökhan Yigit, Hicham Filali, Kelan Chen, Nadine Rosin, Koh Ichiro Yoshiura, Myriam Oufadem, Tamara J. Beck, Ruth McGowan, Alex C. Magee, Janine Altmüller, Camille Dion, Holger Thiele, Alexandra D. Gurzau, Peter Nürnberg, Dieter Meschede, Wolfgang Mühlbauer, Nobuhiko Okamoto, Vinod Varghese, Rachel Irving, Sabine Sigaudy, Denise Williams, S. Faisal Ahmed, Carine Bonnard, Mung Kei Kong, Ilham Ratbi, Nawfal Fejjal, Meriem Fikri, Siham Chafai Elalaoui, Hallvard Reigstad, Christine Bole-Feysot, Patrick Nitschké, Nicola Ragge, Nicolas Lévy, Gökhan Tunçbilek, Audrey S.M. Teo, Michael L. Cunningham, Abdelaziz Sefiani, Hülya Kayserili, James M. Murphy, Chalermpong Chatdokmaiprai, Axel M. Hillmer, Duangrurdee Wattanasirichaigoon, Stanislas Lyonnet, Frédérique Magdinier, Asif Javed, Marnie E. Blewitt, Jeanne Amiel, Bernd Wollnik, Bruno Reversade
Published 2018