Results 171 to 180 of about 11,607 (215)

Shapiro Syndrome: A Case Report. [PDF]

Cureus
Motsara M.
europepmc   +1 more source

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome. [PDF]

Am J Hum Genet
Serpieri V, Vezain-Mouchard M, Orsi A, Lecointre M, Mazzotta C, Marguet F, Garbelli A, Marcorelles P, Celli L, Goldenberg A, De Mori R, Drouot N, Petrizzelli F, Janin F, Nicolas G, Smal N, Condoluci C, Marini C, Tran-Mau-Them F, Ruault V, Micalizzi A, Bione S, Mazza T, Pichiecchio A, Ginevrino M, Weckhuysen S, Bedois A, Desnous B, Hermitte L, Rabie G, Kanaan M, Gonzalez BJ, Sabbioneda S, Laquerrière A, Saugier-Veber P, Valente EM.   +35 more
europepmc   +1 more source

Gene variants in periventricular nodular heterotopia. [PDF]

Acta Epileptol
Song J, Sun X, Zhang C.
europepmc   +1 more source

A novel DCC truncating mutation leads to rare congenital mirror movements and corpus callosum agenesis: A case report. [PDF]

Medicine (Baltimore)
Cao GH, Zhang AQ, Dong Y, Fan LL, Yin JY, Tang LL, Li YL.   +6 more
europepmc   +1 more source

Genetic Disorders Detectable by Fetal MRI: A Review. [PDF]

Diagnostics (Basel)
Wong KC, Chow TH, Cheung C, Chan JPK, Lee JCY, Kan EYL, Chu WCW.   +6 more
europepmc   +1 more source

Agenesis of the corpus callosum

, 2019
openaire   +1 more source

RTN4IP1 mutation and endocrine failure: clinical features and possible benefits of coenzyme Q10. [PDF]

Endocr Connect
Digitale Selvaggio L, Allosso F, Errico M, Grande G, Yousaf M, Torella A, Nigro V, Pasquali D, Telethon Undiagnosed Diseases Program Study Group.   +8 more
europepmc   +1 more source

Agenesis of corpus callosum

, 2011
openaire   +1 more source

Agenesis of the corpus callosum

, 2016
openaire   +1 more source