Results 91 to 100 of about 4,864,231 (177)

PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease. [PDF]

Invest Ophthalmol Vis Sci
Daich Varela M, Schiff E, Malka S, Wright G, Mahroo OA, Webster AR, Michaelides M, Arno G.   +7 more
europepmc   +1 more source

Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization. [PDF]

Arch Dermatol Res, 2014
Menon GK, Orsó E, Aslanidis C, Crumrine D, Schmitz G, Elias PM.   +5 more
europepmc   +1 more source

Biallelic Deletion of <i>PEX26</i> Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease. [PDF]

Mol Syndromol
Yalçınkaya B, Sağlam KA, Terali K, Tekin E, Taslak H, Türkyılmaz A.   +5 more
europepmc   +1 more source

Refsum Disease [PDF]

, 2019
openaire   +1 more source

Cutaneous Aspects of Refsum's Disease [PDF]

Journal of the Royal Society of Medicine, 1991
B C, Ramsay, K, Meeran, D, Woodrow, M, Judge, J J, Cream, F, Clifford Rose, F B, Gibberd   +6 more
openaire   +2 more sources

Refsum's Disease [PDF]

Anesthesiology, 1962
openaire   +1 more source

Topical retinoids and risk of major congenital malformations and spontaneous abortion: a systematic review and meta-analysis. [PDF]

Front Drug Saf Regul
Alali AB, Alhammad FA, Almohammed Saleh JA, Alshaikh SB, Alshayeb ZK, Al Nujaidi AJ, Albinsaleh AA, Almutawah MR, Alhodibi MH, Albesher MA.   +9 more
europepmc   +1 more source

Mondo: integrating disease terminology across communities. [PDF]

Genetics
Vasilevsky NA, Toro S, Matentzoglu N, Flack JE, Mullen KR, Hegde H, Gehrke S, Whetzel PL, Shwetar Y, Harris NL, Ngu MS, Alyea GL, Kane MS, Roncaglia P, Sid E, Thaxton CL, Wood V, Abraham RS, Achatz MI, Ajuyah P, Amberger JS, Babb L, Baker J, Balhoff JP, Berg JS, Bhalla A, Bofill-De Ros X, Braun IR, Broeren EC, Byer BK, Byrne AB, Callahan TJ, Carmody LC, Chan LE, Clause AR, Cohen JS, DeLuca M, Deuitch NT, Flowers M, Fraser J, Fujiwara T, Gitau V, Goldstein JL, Gration D, Groza T, Gyori BM, Hankey W, Hilton JA, Himmelstein DS, Hong SS, Hoyt CT, Huether R, Hurwitz E, Jacobsen JOB, Kikuchi A, Köhler S, Korn DR, Lagorce D, Laraway BJ, Li JY, Malheiro AJ, McLaughlin J, Meldal BHM, Mohan S, Moxon SAT, Munoz-Torres MC, Nelson TH, Nicholas FW, Ochoa D, Olson D, Oprea TI, Oskotsky TT, Osumi-Sutherland D, Paris K, Parkinson HE, Pendlington ZM, Peng XP, Pizzino A, Plon SE, Powell BC, Ratliff JC, Rehm HL, Remennik L, Riggs ER, Roberts S, Robinson PN, Ross JE, Schaper K, Schilder BM, Schmidt JL, Sharp EW, Similuk MN, Smedley D, Sneddon TP, Sparks R, Stefancsik R, Stupp GS, Sundar S, Takatsuki T, Tammen I, Tshering KC, Unni DR, Valasek E, Vanderver A, Wagner AH, Webb RF, Welter D, Yaya-Stupp D, Zankl A, Zhang XA, McMurry JA, Chute CG, Hamosh A, Mungall CJ, Haendel MA.   +114 more
europepmc   +1 more source

Unraveling PEX6: insights into very-long-chain fatty acid levels and peroxisome biogenesis disorders in pediatric populations. [PDF]

Ann Pediatr Endocrinol Metab
Ahangari N, Shirvan BB, Ashrafzadeh F, Karimiani EG, Hashemi N, Imannezhad S, Kalat HL, Ebrahimzadeh F, Akhondian J, Toosi MB.   +9 more
europepmc   +1 more source

Association of <i>ABHD12</i> Variants with the Spectrum of PHARC Syndrome Phenotypes. [PDF]

Int J Mol Sci
Romero-Vázquez S, Méjécase C, Rodriguez-Martinez AC, Cronbach N, Moosajee M.   +4 more
europepmc   +1 more source