Results 141 to 150 of about 3,402 (231)

De novo mutation in DEPDC5 associated with unilateral pachygyria and intractable epilepsy [PDF]

, 2017
Zhidong Cen, Yufan Guo, Yuting Lou, Biao Jiang, Jianda Wang, Jianhua Feng   +5 more
openalex   +1 more source

Fetal malformations of cortical development: review and clinical guidance. [PDF]

Brain
Russ JB, Agarwal S, Venkatesan C, Scelsa B, Vollmer B, Tarui T, Pardo AC, Lemmon ME, Mulkey SB, Hart AR, Nagaraj UD, Kuller JA, Whitehead MT, Cohen JL, Gebb JS, Glenn OA, Norton ME, Gano D.   +17 more
europepmc   +1 more source

Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review. [PDF]

Front Pediatr, 2023
Pavone P, Striano P, Cacciaguerra G, Marino SD, Parano E, Pappalardo XG, Falsaperla R, Ruggieri M.   +7 more
europepmc   +1 more source

Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population [PDF]

, 2019
D.L. Polla, Elisa Rahikkala, Michaela K. Bode, Tuomo Määttä, Teppo Varilo, Thyrza Loman, Anju K. Philips, Mitja Kurki, Aarno Palotie, Jarmo Körkkö, Päivi Vieira, Kristiina Avela, Valérie Jacquemin, Isabelle Pirson, Marc Abramowicz, Arjan P.M. de Brouwer, Outi Kuismin, Hans van Bokhoven, Irma Järvelä   +18 more
openalex   +1 more source

Agenesis of the corpus callosum with associated inter-hemispheric cyst and right frontal pachygyria presenting with psychiatric symptoms in a Kenyan

, 2006
HM Maru, D. M. Ndetei, EO Amayo, ZA Kaka
openalex   +2 more sources

A Novel <i>HERC2</i> Variant in Two Siblings with Autosomal Recessive Intellectual Developmental Disorder-38 and Cardiomyopathy. [PDF]

Mol Syndromol
Şenol HB, Günay Ç, Polat Aİ, Aydın A, Hız AS, Yiş U.   +5 more
europepmc   +1 more source

Teaching NeuroImage: New Pattern of Periventricular Nodular Heterotopia in Twins With a Pathogenic Variant in the MAP1B Gene. [PDF]

Neurology, 2023
Xue H, Zhang C, Xiang L, Yue W.
europepmc   +1 more source

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy [PDF]

, 2010
Luis Kolb, Zülfikar Arlıer, Cengiz Yalçınkaya, Ali K. Ozturk, Jennifer Moliterno, Özdem Ertürk Çetin, Fatih Bayraklı, Barış Korkmaz, Michael L. DiLuna, Katsuhito Yasuno, Kaya Bilgüvar, Tayfun Özçelık, Beyhan Tüysüz, Matthew W. State, Murat Günel   +14 more
openalex   +1 more source

Subependymal grey matter heterotopia with partial corpus callosum dysgenesis, open lip schizencephaly, pachygyria and Dandy Walker variant.

, 2023
Keshaw Kumar
openalex   +1 more source

Ocular findings in Baraitser-Winter syndrome with a de novo mutation in the ACTG1 gene: a case report. [PDF]

BMC Ophthalmol
Kim JW, Kim SY, Lee D.
europepmc   +1 more source