Results 101 to 110 of about 4,566 (168)

Polymicrogyria

, 2013
openaire   +1 more source

SHQ1-related hypomyelinating leukodystrophy: A case report with imaging features and a homozygous variant. [PDF]

Radiol Case Rep
AlBathi A, AlMutairi A, AlDraihem A.
europepmc   +1 more source

Toward precision medicine in <i>SCN3A</i> variants-associated encephalopathies and epilepsy: optimizing genetic diagnosis and molecular subregional effects. [PDF]

Front Neurol
Wang PY, Zhao JX, Liu WH, Chen YJ, Wang HW.   +4 more
europepmc   +1 more source

Genetic Syndromes Including Intellectual Disability and Different Cancer Types. [PDF]

Mol Syndromol
Ünsel-Bolat G, Dutar E, Bolat H.
europepmc   +1 more source

A simple and quantitative ultrasonographic screening method for fetal Sylvian fissure abnormalities. [PDF]

Eur J Med Res
Guo C, Sun L, Liu Y, Zhang T, Wang L, Liang Y, Wang J, Wu Q.   +7 more
europepmc   +1 more source

Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations. [PDF]

Clin Genet
Muhammad A, Nosrati MSS, Dostmohammadi A, Khorasanian R, Severino M, Doustmohammadi M, Madia F, Srivastava S, Quinlan A, Paladini D, Zara F, Scala M.   +11 more
europepmc   +1 more source

Congenital disorder of deglycosylation 2. Report of a novel <i>MAN2C1</i> pathogenic variant and additional phenotypic implications. [PDF]

Mol Genet Metab Rep
Aguirre-Guillen RL, Arredondo-Navarro LÁ, Hernández-Rodríguez MF, Eduardo MT, Del Rosario CPM, Arce-Lozoya MA, Ochoa-Padilla E, Rodríguez-Machuca VU.   +7 more
europepmc   +1 more source

Morphogenesis and morphometry of brain folding patterns across species. [PDF]

Elife
Yin S, Liu C, Choi GPT, Jung Y, Heuer K, Toro R, Mahadevan L.   +6 more
europepmc   +1 more source

Epilepsies and Mirror Movements: An Underrecognized Association? [PDF]

J Clin Med
Nardone R, Trinka E.
europepmc   +1 more source

Isolated homonymous quadrantanopia linked to temporal polymicrogyria: a case study utilizing magnetic resonance imaging and diffusion tensor imaging. [PDF]

Quant Imaging Med Surg
Bai Y, Chae J, Kang JJ, Nguyen TT, Oh SY.   +4 more
europepmc   +1 more source