Results 111 to 120 of about 2,255 (147)

A Collodion Baby with Facial Dysmorphism, Limb Anomalies, Pachygyria and Genital Hypoplasia: A Mild Form of Neu-Laxova Syndrome or a New Entity? [PDF]

, 2013
Deren Özcan, Murat Derbent, Deniz Seçkin, Yunus Emre Bıkmaz, Ahmet Muhteşem Ağıldere, Annachiara De Sandre‐Giovannoli, Nicolas Lévy, Berkan Gürakan   +7 more
openalex   +1 more source

A new lethal case of joint contractures, facial abnormalities, pachygyria plus early-onset encephalopathy with a suppression-burst EEG pattern

, 2007
Maria P. Guerra, Richard A. Hrachovy, Licia Lugli, Eli M. Mizrahi, Fabrizio Ferrari   +4 more
openalex   +2 more sources

Correction to: Congenital pial AVF along the falx cerebri with complete agenesis of the corpus callosum and bilateral parasagittal pachygyria-polymicrogyria secondary to chronic ischemia [PDF]

, 2019
Pei Ing Ngam, Syed Shahzad Hussain, Ai Peng Tan   +2 more
openalex   +1 more source

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

Imaging of Septo-Optic Dysplasia with Focal Pachygyria: A Case Report

Prakash Kayastha, Sharma Paudel, Abhikanta Khatiwada, K C Sharada   +3 more
openalex   +2 more sources

Lissencephaly - pachygyria spectrum

, 2019
Mostafa El-Feky
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

Gamma-Tubulin 1 (TUBG1) Mutation-Associated Lissencephaly and Microcephaly in an Indian Child: A Rare Case. [PDF]

Cureus
Srivastava P, Swaroop S, Diwakar K, Jaiswal A, Singh M.   +4 more
europepmc   +1 more source

A Pachygyria-causing α-Tubulin Mutation Results in Inefficient Cycling with CCT and a Deficient Interaction with TBCB

, 2008
Guoling Tian, Xiang‐Peng Kong, Xavier H. Jaglin, Jamel Chelly, David A. Keays, Nicholas J. Cowan   +5 more
openalex   +1 more source

Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia. [PDF]

Int J Mol Sci
Procopio R, Fortunato F, Gagliardi M, Talarico M, Sammarra I, Sarubbi MC, Malanga D, Annesi G, Gambardella A.   +8 more
europepmc   +1 more source