Results 131 to 140 of about 3,402 (231)

Pachygyria with cerebellar hypoplasia and tigroid pattern of the white matter secondary to neuronal migration disorders [PDF]

, 2022
Jihane El Houssni, Siham El Haddad, Latifa Chat, Nazik Allali   +3 more
openalex   +1 more source

Case Report: Bilateral iris, choroid, optic nerve colobomas and retinal detachment in an Egyptian patient with mild Baraitser–Winter syndrome [PDF]

, 2014
Background: Baraitser–Winter syndrome (BRWS) is a malformation syndrome, characterized by facial dysmorphism, ocular colobomata, pachygyria, and intellectual defects.Case report: A 3.5 year old female child with BRWS has bilateral congenital ptosis ...
Elabd, HSAE, Gamal, R, Shawky, RM
core   +1 more source

Faculty Opinions recommendation of A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB.

, 2008
Yanmin Yang, Wei Wang
openalex   +1 more source

Pachygyria, joint contractures, and facial abnormalities: a new lethal syndrome. [PDF]

, 1990
Masato Tsukahara, Yoshitsugu Sugio, Tadashi Kajii, Masataka Takahashi, Makoto Hirota, Hiroyuki Kato   +5 more
openalex   +1 more source

Lissencephaly-pachygyria complex

, 2018
Frank Gaillard, Sameer Peer
openalex   +1 more source

A Rare Case of Epilepsy in a 16-Year-Old Girl With Fallot Tetralogy Attributed to CNS Heterotopia and Pachygyria [PDF]

, 2007
Smaragda Katsoulakou, Argyro Kiamili, D. Karaiskos   +2 more
openalex   +1 more source

A survey of congenital anomalies in Malta [PDF]

, 1993
This study comprises a register of all cases of congenital anomalies recorded at the time of birth during the nine year period from 1983 to 1991. The occurrence of individual anomalies was analyzed in relation to the maternal age, gestational age, birth ...
Cuschieri, Alfred
core  

Lissencephaly-pachygyria spectrum

, 2012
Henry Knipe, Prashant Gupta
openalex   +1 more source

A cause of intractable epilepsy: bilateral posterior agyria-pachygyria [PDF]

, 2015
Temel Tombul, Aysel Milanlıoğlu, Omer Faruk Odabas   +2 more
openalex   +1 more source

A mutational hotspot in <i>TUBB2A</i> associated with impaired heterodimer formation and severe brain developmental disorders. [PDF]

Front Cell Neurosci
Di Pasquale G, Colella J, Di Cataldo CP, Soler MA, Fortuna S, Mizrahi-Powell E, Nizon M, Cognè B, Turchetti V, Mangano GD, Comisi FF, Cecchetti C, Giliberti A, Nardello R, Pavone P, Falsaperla R, Di Rosa G, Evrony GD, Delvecchio M, Severino M, Accogli A, Vittori A, Salpietro V.   +22 more
europepmc   +1 more source