Celiac disease screening in 100 Turkish children with Down syndrome by Yasemin Alanay, Koray Boduroğlu, Ergül Tunçbilek

Get full text

Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population by Koray Boduroğlu, Yasemin Alanay, Mehmet Alikaşifoğlu, Dilek Aktaş, Ergül Tunçbilek

Get full text

Spondyloenchondrodysplasia: a rare cause of short stature by Gül Yeşiltepe-Mutlu, Elif Ozsu, Filiz Mine Cizmecioğlu, Yasemin Alanay, Sükrü Hatun

Get full text

Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance by G Eda Utine, Yasemin Alanay, Dilek Aktaş, Beril Talim, Gülsev Kale, Ergül Tunçbilek

Get full text

A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings by Esra Kılıç, Mustafa Kılıç, G Eda Ütine, Serap Sivri, Turgay Coskun, Yasemin Alanay

Get full text

Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes by Pelin Ozlem Simşek, Gülen Eda Utine, Ayfer Alikaşifoğlu, Yasemin Alanay, Koray Boduroğlu, Nurgün Kandemir

Get full text

Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients by Gülen Eda Utine, Tolga Celik, Yasemin Alanay, Mehmet Alikaşifoğlu, Koray Boduroğlu, Ergül Tunçbilek, Dilek Aktaş

Get full text

MOWAT-WILSON SYNDROME: DEEP PHENOTYPING AND MOLECULAR CHARACTERISATION OF TWELVE NEW INDIVIDUALS by Umut Altunoğlu, Nilay Güneş, Gözde Tutku Turgut, Tuğba Kalaycı, Ayça Dilruba Aslanger, Murat Derbent, Serpil Eraslan, Birsen Karaman, Zehra Oya Uyguner, Beyhan Tüysüz, Yasemin Alanay, Hülya Kayserili Karabey

Get full text

HPDL Variant Type Correlates With Clinical Disease Onset and Severity by Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson

Get full text

A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions by Simone Baldovino, Savino Sciascia, Claudio Carta, Marco Salvatore, Laura L. Cellai, Gianluca Ferrari, Aimé Lumaka, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Karaman Pagava, Ratna Dua Puri, Vaness I. Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada, Domenica Taruscio

Get full text