Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families

por Sharifi, Shahrashoub, Kalaycı, Tuğba, Palanduz, Şükrü, Öztürk, Şükrü, Cefle, Kıvanç
Publicado 2021

Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome

por Turgut, G. Tutku, Kalelioglu, Ibrahim Halil, Karaman, Volkan, Sarac Sivrikoz, Tugba, Karaman, Birsen, Uyguner, Zehra Oya, Kalayci, Tugba
Publicado 2023

A mysterious cause of recurrent acute liver dysfunction for over a decade

por Dirim, Ahmet Burak, Kalayci, Tugba, Guzel Dirim, Merve, Demir, Semra, Cavus, Bilger, Cifcibasi Ormeci, Asli, Akyuz, Filiz, Kaymakoglu, Sabahattin
Publicado 2021

Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families

por Guven, Yeliz, Saracoglu, Hilal Piril, Aksakal, Sermin Dicle, Kalayci, Tugba, Altunoglu, Umut, Uyguner, Zehra Oya, Eraslan, Serpil, Borklu, Esra, Kayserili, Hulya
Publicado 2023

Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies

por Basaran, Seher, Has, Recep, Kalelioglu, Ibrahim Halil, Sarac Sivrikoz, Tugba, Karaman, Birsen, Kirgiz, Melike, Dehgan, Tahir, Kalayci, Tugba, Ozsait Selcuk, Bilge, Miny, Peter, Yuksel, Atil
Publicado 2022

Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation

por Theil, Arjan F, Pines, Alex, Kalayci, Tuğba, Heredia‐Genestar, José M, Raams, Anja, Rietveld, Marion H, Sridharan, Sriram, Tanis, Sabine EJ, Mulder, Klaas W, Büyükbabani, Nesimi, Karaman, Birsen, Uyguner, Zehra O, Kayserili, Hülya, Hoeijmakers, Jan HJ, Lans, Hannes, Demmers, Jeroen AA, Pothof, Joris, Altunoglu, Umut, El Ghalbzouri, Abdoelwaheb, Vermeulen, Wim
Publicado 2023

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

por Krab, Lianne C., Marcos-Alcalde, Iñigo, Assaf, Melissa, Balasubramanian, Meena, Andersen, Janne Bayer, Bisgaard, Anne-Marie, Fitzpatrick, David R., Gudmundsson, Sanna, Huisman, Sylvia A., Kalayci, Tugba, Maas, Saskia M., Martinez, Francisco, McKee, Shane, Menke, Leonie A., Mulder, Paul A., Murch, Oliver D., Parker, Michael, Pie, Juan, Ramos, Feliciano J., Rieubland, Claudine, Rosenfeld Mokry, Jill A., Scarano, Emanuela, Shinawi, Marwan, Gómez-Puertas, Paulino, Tümer, Zeynep, Hennekam, Raoul C.
Publicado 2020

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

por Vandervore, Laura V, Schot, Rachel, Kasteleijn, Esmee, Oegema, Renske, Stouffs, Katrien, Gheldof, Alexander, Grochowska, Martyna M, van der Sterre, Marianne L T, van Unen, Leontine M A, Wilke, Martina, Elfferich, Peter, van der Spek, Peter J, Heijsman, Daphne, Grandone, Anna, Demmers, Jeroen A A, Dekkers, Dick H W, Slotman, Johan A, Kremers, Gert-Jan, Schaaf, Gerben J, Masius, Roy G, van Essen, Anton J, Rump, Patrick, van Haeringen, Arie, Peeters, Els, Altunoglu, Umut, Kalayci, Tugba, Poot, Raymond A, Dobyns, William B, Bahi-Buisson, Nadia, Verheijen, Frans W, Jansen, Anna C, Mancini, Grazia M S
Publicado 2019