Results 131 to 140 of about 2,523,567 (168)

Novel mechanism for tubular injury in nephropathic cystinosis. [PDF]

Elife
Sur S, Kerwin M, Pineda S, Sansanwal P, Sigdel TK, Sirota M, Sarwal MM.   +6 more
europepmc   +1 more source

FerroScore: a statistical approach for quantifying tumor-related ferroptosis based on omics data. [PDF]

Brief Bioinform
Teng J, Gong Q, Cai Z, Zhou T.
europepmc   +1 more source

MC1R depalmitoylation inhibition reveals a physiological role for pheomelanin. [PDF]

PNAS Nexus
Galván I, García-Guerra M, Araujo-Roque M.   +2 more
europepmc   +1 more source

Diagnostic Yield and Clinical Utility of Genetic Testing in Turkish Adults with Suspected Inherited Kidney Disease: Insights from a Population with High Parental Consanguinity. [PDF]

J Clin Pract Res
Kumru G, Altıner Ş, Karakaya A, Ekinci S, Tuncalı T, Kutlay NY, İli EG, Karabulut HG, Kutlay S, Şengül Ş, Keven K, Nergizoğlu G, Ertürk Ş, Ruhi HI, Ateş K.   +14 more
europepmc   +1 more source

Integrated Multi-Omics Analysis and Experimental Validation Identify Acetylation-Related Genes as Potential Regulators in Osteoarthritis. [PDF]

Biomedicines
Huang Q, Zhao X, Long D, Li M, Jiang Y, Diao H, Chen W, Meng F.   +7 more
europepmc   +1 more source

A Systematic Bioinformatic Analysis of the miRNA Pathway in Inborn Errors of Amino Acid Metabolism Disorders. [PDF]

Mol Syndromol
Bayrak H, Sharafi P, Kılıç M.
europepmc   +1 more source

Hypophosphatasia: Results of a Country-Wide Selective Screening Program Using NGS Technology as a First-Tier Test. [PDF]

Int J Mol Sci
Pushkov AA, Zhanin IS, Chudakova DA, Rusakova AA, Demianov DS, Pakhomov AV, Koroleva VB, Koshevaya YS, Burlachenko AS, Eismont YA, Glotov OS, Fisenko AP, Savostyanov KV.   +12 more
europepmc   +1 more source

Hypophosphatemic rickets: diagnosis and treatment. [PDF]

Arch Endocrinol Metab
Bruneau H, Bergwitz C.
europepmc   +1 more source

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders. [PDF]

J Inherit Metab Dis
McCarron EP, Blau N, Eden ER, Platt FM, Aerts JM, Jones SA, Ferreira CR, Stepien KM.   +7 more
europepmc   +1 more source