Results 111 to 120 of about 1,664 (151)

A novel homozygous <i>ARFGEF2</i> splice-site variant causing periventricular nodular heterotopia with microcephaly. [PDF]

Front Pediatr
Liu X, Pang L, Li J, Zhang J, Wu W, Li X, Gong Y, Dou Y, Chen F, Sun S.   +9 more
europepmc   +1 more source

HETEROTOPIA GLIAL NASAL: RELATO DE CASO

, 2019
João Orlando Correia Veras, Andréa Danny Vasconcelos Câncio, Laís Fernanda Vasconcelos Câncio, Marcelo Coelho Vieira Albuquerque, Carlos Henrique Rabelo Arnaud, Ana Lorena de Carvalho Lima, Ubiratan Martins dos Santos   +6 more
core   +1 more source

Multiple midline brain anomalies in a CMV-exposed fetus with successful surgical management: a case report and literature review. [PDF]

Int J Surg Case Rep
Al Tamimi MF, Abu Aram S, Abueisha M, Maraqah M, Hmedat S, Talahma I.   +5 more
europepmc   +1 more source

The NR2F1-Related 5q14.3-q21.1 deletion causing periventricular heterotopia with cerebral visual impairment: a longitudinal case report and genotype-phenotype analysis. [PDF]

Front Genet
St Clair Tracy H, Dutton GN, Hall HN, Blaikie A.   +3 more
europepmc   +1 more source

Heterotopic Nasopharyngeal Glioneuroma as a Cause of Respiratory Failure in a Newborn. [PDF]

Cureus
Sohmer JS, Mohiuddin M, Ostrower ST.
europepmc   +1 more source

Filamin A in focus: unravelling the multifaceted roles of filamin A in neurodevelopment and neurological disorders. [PDF]

Brain
Zhang L.
europepmc   +1 more source

Undiagnosed complex neurological malformation in a geriatric patient presenting with seizures. [PDF]

Radiol Case Rep
Desale P, Dhande R, Parihar P, Mishra G, Gaur S.   +4 more
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

Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances. [PDF]

Biomedicines
Hu J, Xu X, Jiang P, Huang R, Yuan J, Lu L, Han J.   +6 more
europepmc   +1 more source

Widespread central nervous system hemangiomatosis in a donkey. [PDF]

J Vet Diagn Invest
Mendes RE, Summers BA, Laovechprasit W, Rissi DR.   +3 more
europepmc   +1 more source