Results 91 to 100 of about 1,383 (138)

Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities. [PDF]

BMC Med Genomics
Zhang H, Li F, Liu Z, Chang P, Wang D, Zhao Y, Li S, Ding X, Zhang R, Zhao YE.   +9 more
europepmc   +1 more source

Genetic analysis and clinical characteristics of sporadic and familial congenital cataracts in southern Chinese families. [PDF]

Front Genet
Huang T, Sun HS, Liu YN, Xie QL, Liu Y, Miao XC, Wu W, Li J.   +7 more
europepmc   +1 more source

Genetic aetiology of global developmental delay and intellectual disability in Africa: a scoping review. [PDF]

Front Genet
Dukuze N, Hitayezu J, Uyisenga JP, Hakizimana O, Bours V, Uwineza A, Alagbonsi AI.   +6 more
europepmc   +1 more source

Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts. [PDF]

Hum Mol Genet
Chen S, Lo CH, Liu Z, Wang Q, Ning K, Li T, Sun Y.   +6 more
europepmc   +1 more source

Local PI(4,5)P₂ synthesis by septin-associated PIPKIγ isoforms controls centralspindlin association with the midbody during cytokinesis. [PDF]

Nat Commun
Russo G, Hümpfer N, Jaensch N, Restel S, Schmied C, Heyd F, Lehmann M, Ewers H, Haucke V, Krauss M.   +9 more
europepmc   +1 more source

Updated Gene Therapy for Renal Inborn Errors of Metabolism. [PDF]

Genes (Basel)
Hergenrother S, Husein M, Thompson C, Kalina E, Raina R.   +4 more
europepmc   +1 more source

Hypophosphatemic rickets: diagnosis and treatment. [PDF]

Arch Endocrinol Metab
Bruneau H, Bergwitz C.
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

Lowe Syndrome and Me: a co-creation video series connecting patients, caregivers, and researchers. [PDF]

Front Cell Dev Biol
Haugen T, Gallop JL, Doerflinger H.
europepmc   +1 more source