Exclusion of CLIC5 as a Candidate Gene and Identification of NEFM as a Possible Novel Gene Correlated With Autosomal Recessive Pure Cerebellar Ataxia in a Highly Consanguineous Family
Maltese, Paolo Enrico; Bonetti, Gabriele; Manara, Elena; Tanzi, Benedetta; Bernini, Andrea; Berryman, Mark A.; Tanda, Soichi; Nielsen, Corinne; Casagrande, Silvia; Ferrero, Amanda; Stano, Salvatore; Zuccarino, Riccardo; Barp, Andrea; Chiurazzi, Pietro; Bertelli, Matteo
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Save Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review
Salmaninejad, Arash; Seyedtaghia, Mohammad Reza; Bereshneh, Ali Hosseini; Azizi, Nasrin; Bayat, Reza; Esnaashari, Somaye; Aminzadeh, Vahid; Koohmanaee, Shahin; Savad, Shahram; Mojarrad, Majid; Dalili, Setila
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Save Single Nucleotide Polymorphism Microarray Analysis Unveils Copy-Number Abnormalities and Genetic Heterogeneity in Malaysian Childhood B-Cell Precursor Acute Lymphoblastic Leukemia
Dali, Nor Soleha Mohd; Aziz, Nursaedah Abdullah; Zulkifle, Muhamad Farid; Zamri, Durar Aqilah; Kamaluddin, Nor Rizan; Yeoh, Seoh-Leng; Ho, Betty Lee-Sue; Din, Nazzlin Dizana; Ab Ghani, Azly Sumanty; Hassan, Wan Amal Hayati Wan; Zakaria, Zubaidah; Esa, Ezalia; Yusoff, Yuslina Mat
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Save Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan
Lin, Hsu-Heng; Chen, Hui-An; Lin, Shyh-Jer; Hsu, Rai-Hseng; Lee, Ni-Chung; Hwu, Wuh-Liang; Ni, Yen-Hsuan; Chou, Yen-Yin; Chiu, Pao-Chin; Peng, Steven Shinn-Forng; Chien, Yin-Hsiu
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Save Mosaic Li Fraumeni Syndrome Not Identified in Germinal Tissue
Urban, Rhianna M.; Kanwar, Nisha; Holdren, Megan A.; Hoenig, Megan F.; Rust, Laura M.; Wick, Myra J.; Ferber, Matthew J.; Niu, Zhiyv; Gupta, Sounak; Shen, Wei
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Save Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience
Lin, Hsu-heng; Tsai, Meng-ju Melody; Chen, Hui-an; Hsu, Rai-hseng; Lin, Yun-syuan; Lin, Yi-lin; Hsu, Ching; Chien, Yin-hsiu; Hwu, Wuh-liang; Lee, Ni-chung
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