Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report by Fatemeh Rajabi, Ali Hosseini Bereshneh, Mahboubeh Ramezanzadeh, Masoud Garshasbi

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Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the... by Mehdi Agha Gholizadeh, Mina Mohammadi-Sarband, Fatemeh Fardanesh, Masoud Garshasbi

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Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report by Elham Salehi Siavashani, Mahmoud Reza Ashrafi, Homa Ghabeli, Morteza Heidari, Masoud Garshasbi

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Double Heterozygosity of BRCA2 and STK11 in Familial Breast Cancer Detected by Exome Sequencing by Mojgan ATAEI-KACHOUEI, Javad NADAF, Mohammad Taghi AKBARI, Morteza ATRI, Jacek MAJEWSKI, Yasser RIAZALHOSSEINI, Masoud GARSHASBI

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Symptomatic care of late-onset Alexander disease presenting with area postrema-like syndrome with prednisolone; a case report by Safoura Zardadi, Ehsan Razmara, Maryam Rasoulinezhad, Meisam Babaei, Mohammad Reza Ashrafi, Neda Pak, Masoud Garshasbi, Ali Reza Tavasoli

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Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12 by Ahmad Daneshi, Masoud Garshasbi, Mohammad Farhadi, Khalil Ghasemi Falavarjani, Mohammad Vafaee-Shahi, Navid Almadani, MohammadSina Zabihi, Mohammad Amin Ghalavand, Masoumeh Falah

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