The phenotypic spectrum of PTCD3 deficiency by Baiba Lace, Eissa Faqeih, Namik Kaya, Zita Krumina, Johannes A. Mayr, Ieva Micule, Nathan Thompson Wright, Melanie T. Achleitner, Hanan AlQudairy, Sander Pajusalu, Janis Stavusis, Pawel Zayakin, Inna Inashkina

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Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia by Abdulrahman Al-Hussaini, Mohammed AlMannai, Muhannad Alruwaithi, Eissa Faqeih, Ali Alasmari, Majid Alfadhel, Fuad Al Mutairi, Mohammed Saleh, Abdullah AlZaben, Yaser Alobailan, Moodhi Alharbi, Manal AlAfqi, Alaa Alayed, Abdul Ali Peer-Zada, Yasir Alrusayni

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Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia. by Abdulrahman Al-Hussaini, Mohammed AlMannai, Muhannad Alruwaithi, Eissa Faqeih, Ali Alasmari, Majid Alfadhel, Fuad Al Mutairi, Mohammed Saleh, Abdullah AlZaben, Yaser Alobailan, Moodhi Alharbi, Manal AlAfqi, Alaa Alayed, Abdul Ali Peer-Zada, Yasir Alrusayni

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Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. by Martina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, Harold E Cross, Brian Mark, Gaurav V Harlalka, Michael A Patton, Miho Ishida, Elijah R Behr, Sanjay Sharma, Kenneth Zahka, Eissa Faqeih, Brian Blakley, Mike Jackson, Melissa Lees, Vernon Dolinsky, Leroy Cross, Philip Stanier, Claire Salter, Emma L Baple, Fowzan S Alkuraya, Andrew H Crosby, Barbara Triggs-Raine, Barry A Chioza

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