Results 151 to 160 of about 19,788 (203)

Brèves [PDF]

, 2006
Ameisen, Jean-Claude, Ardaillou, Raymond, Bensussan, Armand, Bohler, Marie-Christine, Borensztein, Pascale, Chneiweiss, Hervé, Costagliola, Dominique, Coulombel, Laure, Ehrenberg, Alain, Epelbaum, Jacques, Ferrary, Évelyne, Ferré, Pascal, Friedlander, Gérard, Galli, Thierry, Gilgenkrantz, Hélène, Gilgenkrantz, Simone, Hamelin, Richard, Hatem, Stéphane, Labie, Dominique, Lortholary, Olivier, Moulin, Anne-Marie, Parent, Lucie, Sauvé, Rémy, Schmitt, Christian   +23 more
core  

Prenatal diagnosis of Joubert syndrome: A case report.

Radiol Case Rep
Yen VTH.
europepmc   +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

Neuroimaging Characteristics as Diagnostic Tools in Joubert Syndrome and Related Disorders: A Case Report and Literature Review. [PDF]

Cureus
Alhashimi I, Zoghoul S, Khalil SK, Yousif ZB, Jumah A, Alkailani Y.   +5 more
europepmc   +1 more source

Joubert syndrome

, 2021
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

Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene. [PDF]

HGG Adv
Betz C, Reusch B, Langmann T, Habbig S, Beck BB, Bolz HJ.   +5 more
europepmc   +1 more source

Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system. [PDF]

Biol Open
Noble AR, Masek M, Hofmann C, Cuoco A, Rusterholz TDS, Özkoc H, Greter NR, Phelps IG, Vladimirov N, Kollmorgen S, Stoeckli E, Bachmann-Gagescu R.   +11 more
europepmc   +1 more source