Bi‐allelic loss of function variant in the NRCAM gene is associated with motor‐predominant axonal polyneuropathy; the second report von Elahi, Zohreh, Soveyzi, Mohamad, Nafissi, Shahriar, Nilipour, Yalda, Goleyjani Moghadam, Masoumeh, Keshavarz, Elham, Kariminejad, Ariana, Najmabadi, Hossein, Fattahi, Zohreh

Volltext

Expanding the Molecular Spectrum of HK1 -Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran von Goleyjani Moghadam, Masoumeh, Elahi, Zohreh, Soveyzi, Mohamad, Arzhangi, Sanaz, Nafissi, Shahriar, Najmabadi, Hossein, Kahrizi, Kimia, Fattahi, Zohreh

Volltext

Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis von Fattahi, Zohreh, Shokouhian, Ebrahim, Peymani, Fatemeh, Babanejad, Mojgan, Beheshtian, Maryam, Edizadeh, Masoud, Molaei, Negar, Alagha, Parnian, Ghodratpour, Fatemeh, Keshavarzi, Fatemeh, Moghadam, Masoumeh Goleyjani, Arzhangi, Sanaz, Kahrizi, Kimia, Najmabadi, Hossein

Volltext