Results 161 to 170 of about 9,462 (208)

Clinical and genetic characterization of <i>DNM1l</i>-related disorders: insights into genotype-phenotype correlations. [PDF]

Front Pediatr
Manting X, Hua L, Sheng H, Xiaodi H, Dan S, Fang F.   +5 more
europepmc   +1 more source

Isolated Cone Dystrophy With Secondary Macular Involvement Mimicking Vascular Insult and Optic Atrophy: A Case Report. [PDF]

Cureus
Varghese DE, Sudhakar S.
europepmc   +1 more source

Neuroimaging in inborn errors of immunity: More than infections. [PDF]

Neuroradiology
Sousa Brandão P, Conceição C, Farela Neves J.   +2 more
europepmc   +1 more source

CAPOS and Beyond: <i>ATP1A3</i> Variants in Pediatric Movement Disorders - Case Reports. [PDF]

Mol Syndromol
Yanartaş MS, Köken ÖY, Ceylan AC, Bozacı AE, Kara TT, Haspolat Ş.   +5 more
europepmc   +1 more source

Unveiling a Rare Phenotypic Presentation of Mitofusin 2 Mutation as Cerebellar Ataxia. [PDF]

Ann Indian Acad Neurol
Robert P, Velayudhan SC, Aboobekar HA, Sudhakaran P.   +3 more
europepmc   +1 more source

PDXK-Related Neuropathy: A Case With a Novel Splice-Altering Missense Variant and Literature Review. [PDF]

Mol Genet Genomic Med
Subbotin D, Akimova D, Dadali E, Mikhalchuk K, Borovikov A, Kadyshev V, Skoblov M, Murtazina A.   +7 more
europepmc   +1 more source

Early-onset drusen in Malattia Leventinese with <i>EFEMP1</i> mutation differ from drusen in age-related macular degeneration. [PDF]

Rom J Ophthalmol
Shakeel A, Bhatt D, Sripriya S, Ratra D.
europepmc   +1 more source