Results 131 to 140 of about 9,987 (182)

The Genetic Landscape of Paediatric Cataract in Saudi Arabia: A Two-Decade Cohort with Novel Variants, Genotype-Phenotype Correlations, and Bioinformatic Analysis. [PDF]

J Clin Med
Alsugair M, Alsuhaym F, Aldharee H, Alobaisi S, Alsharani S, Alwatban S, Alnahdi MA, Al Balwi M.   +7 more
europepmc   +1 more source

3-Methyl Glutaconic Aciduria and Elevated Plasma Growth Differentiation Factor 15 Level in an Adult with Monoallelic <i>SPG7</i> Pathogenic Variant. [PDF]

Acta Myol
Olarewaju BA, Harahsheh EY, Dweik KI, Tejon JB, Shurrab S, Johnson SA, Gavrilov DK, Osundiji MA.   +7 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

Mitochondrial dysfunction in neurodegenerative disorders: mechanisms and therapeutic advances. [PDF]

Mol Biomed
Tong Y, He JN, Zhou L, Zhang J, Ho BM, Du L, Yip YWY, Bisnauthsing H, Chan PP, Tham CC, Pang CP, Chu WK.   +11 more
europepmc   +1 more source

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

The Long Haul: Microtubule Motors as the Essential Supply Line for Neuronal Longevity. [PDF]

J Neurochem
Turner ED, Twelvetrees AE.
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