Results 121 to 130 of about 7,958 (196)

The Role of Visual Electrophysiology in Systemic Hereditary Syndromes. [PDF]

Int J Mol Sci
Yu M, Vieta-Ferrer ER, Bakdalieh A, Tsai T.   +3 more
europepmc   +1 more source

Syndromic Retinitis Pigmentosa: A Narrative Review. [PDF]

Vision (Basel)
Janáky M, Braunitzer G.
europepmc   +1 more source

Inherited retinal disorders in Scotland: A 5 year assessment. [PDF]

Eye (Lond)
Hazelwood JE, Sevgi M, Osborne F, Staniszewski B, George N, Ionean A, Gilmour DF, Megaw R.   +7 more
europepmc   +1 more source

Inherited Retinal Disease as a Predisposing Factor for Paclitaxel Maculopathy. [PDF]

J Vitreoretin Dis
Meshkin RS, Eliott D, Yuan AE, McKay KM.
europepmc   +1 more source

Temporal trends in surgical treatment of inflammatory bowel disease following introduction of biological drugs in Norway and Sweden. [PDF]

BMJ Open Gastroenterol
Högdén A, Perrin V, Adami HO, Kalager M, Jess T, Ye W, Young J, Helsingen LM, Refsum E, Blom J.   +9 more
europepmc   +1 more source

Congenital CD59 Deficiency-A Novel Cause of Relapsing-Remitting Polyneuropathy. [PDF]

Ann Indian Acad Neurol
Cornelius LP, Livingston J, Elango N.
europepmc   +1 more source

Identification of a new frameshift homozygous variant of PEX3 gene in a preterm infant with profound global developmental delay and bilateral ptosis: a case report and updated literature review. [PDF]

BMC Pediatr
Su J, Tao Y, Zhang L, Luo J.
europepmc   +1 more source

Heterozygous Mutations in Both the AMN and CBS Genes: Double Haploinsufficiency as an Unusual Cause of Vitamin B₁₂ Deficiency-A Case Report. [PDF]

Clin Case Rep
Iversen PO, Gueant JL, Oussalah A, Refsum H, Nexo E, Tjønnfjord GE, Qvigstad C.   +6 more
europepmc   +1 more source

Identification of PEX7 as the second gene involved in Refsum disease. [PDF]

Am J Hum Genet, 2003
van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ.   +9 more
europepmc   +1 more source

Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia. [PDF]

Invest Ophthalmol Vis Sci
Hunt C, Yoon HJ, Lirio A, Coley K, Wang J, Shrine N, Shao J, Maconachie GDE, Tu Z, Zippin JH, Hysi PG, Hammond CJ, Mahroo OA, Moosajee M, Michaelides M, Webster AR, Moshiri A, Chen R, Tobin MD, Batini C, Thomas MG, UK Biobank Eye and Vision Consortium.   +21 more
europepmc   +1 more source