Results 121 to 130 of about 9,324 (210)

A case of Baraitser-Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing. [PDF]

Hum Genome Var
Suga K, Sato H, Suzue M, Honma Y, Hayabuchi Y, Nakagawa R, Shinomiya K, Okamoto N, Inoue Y, Tsuchida N, Matsumoto N, Morino H, Izumi Y, Urushihara M.   +13 more
europepmc   +1 more source

Malformations of cortical development on fetal MRI. [PDF]

J Clin Imaging Sci
Ganapathy SS, Hunter K, Janitz E, Sreedher G.   +3 more
europepmc   +1 more source

Grey matter hypertropia in a child with recurrent seizure: A case report. [PDF]

Radiol Case Rep
Dhakal N, Dahal P.
europepmc   +1 more source

Coexistence of Incontinentia Pigmenti and Pituitary Aplasia in a Female Child. [PDF]

Cureus
Valério M, Passos Croca G, Veríssimo P, Justo Pereira R, Lopes L.   +4 more
europepmc   +1 more source

Neuronal Heterotopy in a Patient with Wiedemann-Steiner Syndrome Caused by a Truncating <i>KMT2A</i> Variant: Clinical and Genetic Correlations. [PDF]

Reports (MDPI)
Sokolova T, Ivanov H, Panova M, Sotkova-Ivanova I, Stoyanova V.   +4 more
europepmc   +1 more source

Middle Interhemispheric Variant of Holoprosencephaly With Septo-Optic Dysplasia: A Rare Association. [PDF]

Cureus
Luce JR, Tran J, Shah C.
europepmc   +1 more source

Amygdala enlargement associated with remote epileptogenic lesions. [PDF]

Epilepsia
Urbach H, Demerath T, Rau A, Altenmüller DM, Heers M, Elsheikh S.   +5 more
europepmc   +1 more source

Gastric and Pancreatic Ectopic Mucosa in the Gallbladder: A Unique Mimicker of Polypoid Lesions. [PDF]

Cureus
Erbagci A, Engin Zerk P.
europepmc   +1 more source

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans. [PDF]

Nat Commun
Bonardi CM, Møller RS, Ruiz-Reig N, Chai G, Madsen CG, Bayat A, Hammer TB, Fenger CD, Gardella E, Gawlinski P, Dawidziuk M, Wiszniewski W, Bekiesinska-Figatowska M, Cabet S, Rossi M, Lesca G, Gouy E, Jepsen B, Mieszczanek TS, Sanchez Russo R, Barr EE, Õunap K, Ilves P, Wojcik MH, Aittaleb M, Brusgaard K, Tissir F, Rubboli G.   +27 more
europepmc   +1 more source