Results 171 to 180 of about 2,477,262 (230)

Joubert Syndrome Presenting With Levodopa-Responsive Parkinsonism. [PDF]

J Mov Disord
Hwangbo J, Park KS, Kim HS, Choi JH, Lee JH.   +4 more
europepmc   +1 more source

A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa. [PDF]

Pharmgenomics Pers Med
Chen L, Zhao MF, Deng HW, Liao M, Fan LL, Zhong QB, Wang J, Li K, Wu ZH, Yin JY.   +9 more
europepmc   +1 more source

Coats-like Exudative Retinopathy in a Patient with Joubert Syndrome with CEP290 Mutation: A Case Report. [PDF]

Korean J Ophthalmol
Goh YH, Hwang S, Kim SJ.
europepmc   +1 more source

Joubert Syndrome

The Internet Journal of Radiology, 2007
openaire   +1 more source

A Unique Case of Joubert Syndrome with Concurrent IgA Nephropathy and Nephronophthisis in an Adult Patient. [PDF]

Indian J Nephrol
Shankar M, Anusha V, Shetty A, Sreedhara CG, Vinay KS, Aralapuram K, Reddy GG.   +6 more
europepmc   +1 more source

Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway. [PDF]

J Cell Mol Med
Hong Z, Xiang S, Chen Z, Qiu X, Zhang L, Ma L, Wang M.   +6 more
europepmc   +1 more source

Joubert syndrome

, 2019
openaire   +1 more source

Joubert syndrome presenting bilateral peroneal neuropathies: A case report. [PDF]

Medicine (Baltimore)
Kim HM, Jo HS, Han JY, Choi IS, Song MK, Park HK.   +5 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome. [PDF]

Int J Mol Sci
Deconte D, Diniz BL, Hartmann JK, de Souza MA, Zottis LFF, Zen PRG, Rosa RFM, Fiegenbaum M.   +7 more
europepmc   +1 more source