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1دورية أكاديمية
المؤلفون: Nejat Mahdieh, Morteza Heidari, Zahra Rezaei, Ali Reza Tavasoli, Sareh Hosseinpour, Maryam Rasulinejad, Ali Zare Dehnavi, Masoud Ghahvechi Akbari, Reza Shervin Badv, Elahe Vafaei, Ali Mohebbi, Pouria Mohammadi, Seyyed Mohammad Mahdi Hosseiny, Reza Azizimalamiri, Ali Nikkhah, Elham Pourbakhtyaran, Mohammad Rohani, Narges Khanbanha, Sedigheh Nikbakht, Mojtaba Movahedinia, Parviz Karimi, Homa Ghabeli, Seyed Ahmad Hosseini, Fatemeh Sadat Rashidi, Masoud Garshasbi, Morteza Rezvani Kashani, Noor M. Ghiasvand, Stephan Zuchner, Matthis Synofzik, Mahmoud Reza Ashrafi
المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-18 (2024)
مصطلحات موضوعية: Autosomal recessive cerebellar ataxia, Ataxia, Hereditary cerebellar ataxia, Spinocerebellar ataxia, Iranian population, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1479-7364Test
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2دورية أكاديمية
المؤلفون: Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Aysan Moeinafshar, Hossein Sadeghi, Parvaneh Karimzadeh, Reza Mirfakhraie, Mitra Rezaei, Farzad Hashemi-Gorji, Morteza Rezvani Kashani, Fatemehsadat Fazeli Bavandpour, Saman Bagheri, Parinaz Moghimi, Masoumeh Rostami, Rasoul Madannejad, Hassan Roudgari, Mohammad Miryounesi
المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-28 (2024)
مصطلحات موضوعية: Pontocerebellar Hypoplasia, PCH, Whole exome sequencing, WES, Novel mutations, Novel clinical findings, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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3دورية أكاديمية
المؤلفون: Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Aysan Moeinafshar, Hossein Sadeghi, Parvaneh Karimzadeh, Reza Mirfakhraie, Mitra Rezaei, Farzad Hashemi-Gorji, Morteza Rezvani Kashani, Fatemehsadat Fazeli Bavandpour, Saman Bagheri, Parinaz Moghimi, Masoumeh Rostami, Rasoul Madannejad, Hassan Roudgari, Mohammad Miryounesi
مصطلحات موضوعية: Genetics, Pontocerebellar Hypoplasia, PCH, Whole exome sequencing, WES, Novel mutations, Novel clinical findings
الإتاحة: https://doi.org/10.6084/m9.figshare.25210684.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Broadening_the_phenotype_and_genotype_spectrum_of_novel_mutations_in_pontocerebellar_hypoplasia_with_a_comprehensive_molecular_literature_review/25210684Test