A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype by Eleni Agakidou, Charalampos Agakidis, Marios Kambouris, Nicoleta Printza, Maria Farini, Elina Vourda, Spyridon Gerou, Kosmas Sarafidis

Get full text

Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome by Euthymia Vargiami, Athina Ververi, Hamda Al-Mutawa, Georgia Gioula, Spyridon Gerou, Fotios Rouvalis, Marios Kambouris, Dimitrios I. Zafeiriou

Get full text

The genetic landscape of autism spectrum disorder in the Middle Eastern population by Yasser Al-Sarraj, Yasser Al-Sarraj, Yasser Al-Sarraj, Rowaida Z. Taha, Eman Al-Dous, Eman Al-Dous, Dina Ahram, Dina Ahram, Somayyeh Abbasi, Eman Abuazab, Hibah Shaath, Wesal Habbab, Khaoula Errafii‬, Yosra Bejaoui, Maryam AlMotawa, Namat Khattab, Yasmin Abu Aqel, Karim E. Shalaby, Amina Al-Ansari, Marios Kambouris, Marios Kambouris, Adel Abouzohri, Iman Ghazal, Mohammed Tolfat, Fouad Alshaban, Fouad Alshaban, Hatem El-Shanti, Hatem El-Shanti, Omar M. E. Albagha, Omar M. E. Albagha

Get full text

Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study by Mona Abdi, Elbay Aliyev, Brett Trost, Muhammad Kohailan, Waleed Aamer, Najeeb Syed, Rulan Shaath, Geethanjali Devadoss Gandhi, Worrawat Engchuan, Jennifer Howe, Bhooma Thiruvahindrapuram, Melissa Geng, Joe Whitney, Amira Syed, Jyothi Lakshmi, Sura Hussein, Najwa Albashir, Amal Hussein, Ilaria Poggiolini, Saba F. Elhag, Sasirekha Palaniswamy, Marios Kambouris, Maria de Fatima Janjua, Mohamed O. El Tahir, Ahsan Nazeer, Durre Shahwar, Muhammad Waqar Azeem, Younes Mokrab, Nazim Abdel Aati, Ammira Akil, Stephen W. Scherer, Madeeha Kamal, Khalid A. Fakhro

Get full text