Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Parinaz Moghimi"'
Autor:
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
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-28 (2024)
Abstract Background Pontocerebellar hypoplasia is an umbrella term describing a heterogeneous group of prenatal neurodegenerative disorders mostly affecting the pons and cerebellum, with 17 types associated with 25 genes. However, some types of PCH l
Externí odkaz:
https://doaj.org/article/f8b83656e19b40b8b1e10d8074983c45
Autor:
Sahand Tehrani Fateh, Nadia Mohammad Zadeh, Shadab Salehpour, Farzad Hashemi-Gorji, Ashkan Omidi, Hossein Sadeghi, Reza Mirfakhraie, Parinaz Moghimi, Sepideh Keyvanfar, Sepideh Mohammadi Sarvaleh, Mohammad Miryounesi, Mohammad-Reza Ghasemi
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Background Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder characterized by a range of physical, cognitive, and behavioral abnormalities. This study aimed to perform a comprehensive review of the literature on CdLS and investiga
Externí odkaz:
https://doaj.org/article/5ebbdb586b0648b19407e2f71ebb7369
Autor:
Fatemeh Norouzi Rostami, Hossein Sadeghi, Farzad Hashemi-Gorji, Sahand Tehrani Fateh, Reza Mirfakhraie, Parvaneh Karimzadeh, Milad Davarpanah, Sanaz Jamshidi, Rasoul Madannejad, Parinaz Moghimi, Mahdis Ekrami, Mohammad Miryounesi, Mohammad-Reza Ghasemi
Publikováno v:
Heliyon, Vol 10, Iss 6, Pp e27434- (2024)
Background and aims: The occurrence of thiamine metabolism dysfunction syndrome (THMD), a rare autosomal recessive condition, may be linked to various mutations found in the TPK1 and SLC19A3 genes. The disease chiefly manifests through ataxia, muscle
Externí odkaz:
https://doaj.org/article/1355e9614303414794d1ae8b428c161e