Results 61 to 70 of about 731 (137)

Papillorenal syndrome: a systemic diagnosis not to be missed on funduscopy. [PDF]

BMJ Case Rep, 2021
Ng B, De Silva S, Bindra M.
europepmc   +1 more source

Lysosome positioning and mTOR activity in Lowe syndrome. [PDF]

EMBO Rep, 2021
Karabiyik C, Son SM, Rubinsztein DC.
europepmc   +1 more source

Oculocerebrorenal syndrome of Lowe: magnetic resonance imaging findings in the first six years of life Síndrome oculocerebrorrenal de Lowe: achados evolutivos de imagem de ressonância magnética nos primeiros seis anos de vida

Arquivos de Neuro-Psiquiatria, 2009
Arnolfo de Carvalho-Neto, Sergio Eiji Ono, Georgina de Melo Cardoso, Mara Lucia Schmitz Ferreira Santos, Izabela Celidonio   +4 more
doaj   +1 more source

Loss of OCRL increases ciliary PI(4,5)P₂ in Lowe oculocerebrorenal syndrome.

J Cell Sci, 2017
Prosseda PP, Luo N, Wang B, Alvarado JA, Hu Y, Sun Y.   +5 more
europepmc   +1 more source

Genotype and Phenotype Correlation in Patients With Dent's Disease Type 1-Clearing Muddy Waters. [PDF]

Kidney Int Rep, 2023
Mannemuddhu SS, Bökenkamp A.
europepmc   +1 more source

Ocular findings and genomics of X-linked recessive disorders: A review. [PDF]

Indian J Ophthalmol, 2022
Hassan A, Mir YR, Kuchay RAH.
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

Macrocephaly and Characteristic MRI Findings as Early Clues to a Hereditary Overgrowth Syndrome. [PDF]

Cureus
Cezanne C, Freitas K, Ferreira SL, Queiroz AM, Monteiro JP.   +4 more
europepmc   +1 more source

Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases. [PDF]

Front Genet, 2022
Gao M, Yu F, Dong R, Zhang K, Lv Y, Ma J, Wang D, Zhang H, Gai Z, Liu Y.   +9 more
europepmc   +1 more source

Transmission of F12-related hereditary angioedema through a sperm donor. [PDF]

Front Immunol
Marquès L, Batlle-Masó L, Alcoceba E, Lara S, Aguiló-Cucurull A, Gil-Serrano J, Guilarte M, Colobran R.   +7 more
europepmc   +1 more source