Results 181 to 190 of about 11,896 (240)

Compound Heterozygous <i>PNKP</i> Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review. [PDF]

NeuroSci
Ragona F, Messina G, Magri S, Doniselli FM, Freri E, Canafoglia L, Solazzi R, Gellera C, Granata T, DiFrancesco JC, Castellotti B.   +10 more
europepmc   +1 more source

Multiplex Consanguineous Family Highlights CLASP1 as a Candidate Gene for Lissencephaly. [PDF]

Neurol Genet
Alsafh R, Alhashem A, Elsyed A, Yüksel Z, Graiess-Tlili K, Hundallah K, Thabet F, Tabarki B.   +7 more
europepmc   +1 more source

Assessing the clinical application value of SNP-array in fetal central nervous system malformations. [PDF]

Hum Genomics
Li W, Su J, Lu W, Tang X, Zhou C, Lan Y, Wei Y, Huang L, Luo J, Ou S, Tan S, Wei S, Jiang Y, Su J, Wang L, Huang M, Luo J, Huang P.   +17 more
europepmc   +1 more source

Lissencephaly.

Indian pediatrics, 1996
G L, Gupte, A S, Kher, S M, Joshi, B A, Bharucha, S P, Kanade   +4 more
openaire   +1 more source

Role of Physiotherapy in Pediatric Lissencephaly: A Case Report and Therapeutic Insights. [PDF]

Cureus
Sasun AR, Sharath HV.
europepmc   +1 more source

Lissencephaly 3 [PDF]

, 2020
openaire   +1 more source

Lissencephaly type I - subcortical band heterotopia spectrum

, 2013
Daniel Bell
openalex   +1 more source

Microcephaly, Epilepsy, and Diabetes Syndrome 1: A Moroccan Case Report of Novel Compound Heterozygous <i>IER3IP1</i> Mutations and Literature Review. [PDF]

Balkan J Med Genet
Jelti H, Khabbache K, Bouressas S, Hacht F, Oulmaati A, Lamzouri A.   +5 more
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

Walker-Warburg syndrome: A case report of congenital muscular dystrophy with hydrocephalus. [PDF]

Radiol Case Rep
Aref F, Shaaban A, Ahmed A, Gubari M, Hassan J, Alharbi M, Alsubhi K, Alsalhi K, Albalawi S, Ali M, Ali H, Filfilan N, Shmailah E, Ahmed A.   +13 more
europepmc   +1 more source