Results 191 to 200 of about 11,896 (240)

P253 Next-generation phenotyping facilitates the identification of structural brain malformations in rare disorders through computational brain MRI analysis. [PDF]

Genet Med Open
Hsieh TC, Jaddu S, Weiland H, Hagen MT, Li JM, Chang CC, Hsieh SY, Chou HH, Lyon G, Dobyns W, Chen WL.   +10 more
europepmc   +1 more source

Lissencephaly caused by a de novo mutation in tubulin TUBA1A: a case report and literature review. [PDF]

Front Pediatr
Ren S, Kong Y, Liu R, Li Q, Shen X, Kong QX.   +5 more
europepmc   +1 more source

Identification of <i>MACF1</i> as a causative gene of generalised epilepsy. [PDF]

J Med Genet
Lei XY, Zhang MW, Sun H, Song W, Liang XY, Wang CS, Luo S, Li BM, Liu XR, Wang Y, Tian Y, Peng Q, Wang J, Meng H, He N, Liao WP.   +15 more
europepmc   +1 more source

Congenital Oropouche in Humans: Clinical Characterization of a Possible New Teratogenic Syndrome. [PDF]

Viruses
Ribeiro BFR, Barreto ARF, Pessoa A, Azevedo RDSDS, Rodrigues FF, Borges BDCB, Mantilla NPM, Muniz DD, Chiang JO, Fraga LR, Vianna FSL, Sanseverino MTV, Faccini LS, Martins FEDN, Azevedo RDS, Martins LC, Casseb LMN, Oliveira CS, Vasconcelos PFDC, Quaresma JAS, Abeche AM, Prazeres VMG, Oliveira LAN, Karam SM, Radin G, Del Campo M, Ventura CV, Schuler-Faccini L.   +27 more
europepmc   +1 more source

Lissencephaly and Advanced-Stage Congenital Cytomegalovirus Infection in a Neonate. [PDF]

Cureus
Manalac AJE, Lytle E, Khan L, George K.
europepmc   +1 more source

Infantile epileptic spasms syndrome in a child with lissencephaly associated with de novo PAFAH1B1 variant and coincidental CMV infection. [PDF]

Epilepsy Behav Rep
Ying Eng N, Nie DA.
europepmc   +1 more source

Adult Case of Pontocerebellar Hypoplasia without the Claustrum. [PDF]

Neurol Int
Hayashi K, Mitsuhashi S, Kawahara E, Suzuki A, Nakaya Y, Sato M, Kobayashi Y.   +6 more
europepmc   +1 more source

Lissencephaly-pachygyria spectrum

Mostafa Mohamed
openalex   +1 more source

The response to anti-seizure medications and the development of pharmacoresistant epilepsy in malformations of cortical development. [PDF]

BMC Med
Miao P, Ying M, Chen R, Yang Y, Ding Y, Zhu J, Feng J, Wang J, Aung T, Wang S, Jin B.   +10 more
europepmc   +1 more source