Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Hossein Shojaaldini Ardakani"'
Publikováno v:
Caspian Journal of Internal Medicine, Vol 15, Iss 1, Pp 193-198 (2024)
Background: Elejalde syndrome is a rare neuroectodermal melanolysosomal disease with an autosomal recessive heredity. Patients usually present with silvery-gray hair, neurological abormalities, diffuse skin hypopigmentation and suntanned skin color.
Externí odkaz:
https://doaj.org/article/969098d0b0cc40dca4932103ed5b00e1
Autor:
Shahram Savad, Mahmoud Reza Ashrafi, Niusha Samadaian, Morteza Heidari, Mohammad-Hossein Modarressi, Gholamreza Zamani, Saloomeh Amidi, Sarang Younesi, Mohammad Mahdi Taheri Amin, Pourandokht Saadati, Alireza Ronagh, Hossein Shojaaldini Ardakani, Solat Eslami, Soudeh Ghafouri-Fard
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Spinal muscular atrophy (SMA) is among the most common autosomal recessive disorders with different incidence rates in different ethnic groups. In the current study, we have determined SMN1, SMN2 and NAIP copy numbers in an Iranian populatio
Externí odkaz:
https://doaj.org/article/1d10e3ef51cb48678afce16f773083d6
Publikováno v:
Journal of Midwifery & Reproductive Health, Vol 9, Iss 1, Pp 2636-2638 (2021)
Externí odkaz:
https://doaj.org/article/bcf2869d6fee4584a0bf9dc5279d8de1
Autor:
Morteza Heidari, Azam Pourahmadiyan, Hossein Shojaaldini Ardakani, Shahram Savad, Shahab Noorian
Publikováno v:
International Journal of Neuroscience. 131:875-878
Introduction: Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a severe autosomal recessive epileptic encephalopathy characterized by microcephaly, rigidity, intractable focal se...
Autor:
Azam, Pourahmadiyan, Morteza, Heidari, Hossein, Shojaaldini Ardakani, Shahab, Noorian, Shahram, Savad
Publikováno v:
The International journal of neuroscience. 131(9)
Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a severe autosomal recessive epileptic encephalopathy characterized by microcephaly, rigidity, intractable focal seizures, apnea, and bradycardia at or soon after birth. RMFSL is rel