Results 131 to 140 of about 9,217 (165)

Atypical Retinitis Pigmentosa With Systemic Features in Bardet-Biedl Syndrome. [PDF]

Clin Case Rep
Ahsan MU, Shaheen S, Ahmed S.
europepmc   +1 more source

Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy. [PDF]

BMC Ophthalmol
Wang L, Li M, Dou G, Sun J, Zhou Z, Wang Y, Zhang Z.   +6 more
europepmc   +1 more source

A novel mutation of IFT140 in a preschool child with Mainzer-Saldino syndrome accompanied by rare tumor blastic plasmacytoid dendritic cell neoplasm: a case report. [PDF]

BMC Pediatr
Hu R, Li J, Yang F, Jiang M.
europepmc   +1 more source

Knowledge mapping of alström syndrome research: a bibliometric and visualization analysis based on WoS data from 2000 to 2025. [PDF]

Front Genet
Zhang H, Fu H, Sui X, Si S, Zhang Y, Li K, Wang M, Song Z, Yang Y, Liu Z, Zhang G.   +10 more
europepmc   +1 more source

Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture. [PDF]

Nat Commun
Vazquez N, Lee C, Valenzuela I, Phan TP, Derderian C, Chávez M, Mooney NA, Demeter J, Aziz-Zanjani MO, Cusco I, Codina M, Martínez-Gil N, Valverde D, Solarat C, Bruel AL, Thauvin-Robinet C, Steichen E, Filges I, Joset P, De Geyter J, Vaidyanathan K, Gardner TP, Toriyama M, Marcotte EM, Drew K, Roberson EC, Jackson PK, Reiter JF, Tizzano EF, Wallingford JB.   +29 more
europepmc   +1 more source

Adult-Onset Diabetes and Liver Fibrosis as Diagnostic Clues to Alström Syndrome: A Case Report. [PDF]

Cureus
Balogun F, Honarius S, Yeoh MLY, Abouibrahim M, Sayed M, Randall J.   +5 more
europepmc   +1 more source

Delayed Clinical Diagnosis of Alström Syndrome in a Resource-Limited Setting: A Case Report From Rural Pakistan. [PDF]

Cureus
Shahab S, Khan JA.
europepmc   +1 more source

Further evidence of <i>RNU4ATAC</i> variants causing Joubert syndrome with skeletal involvement. [PDF]

J Med Genet
D'Abrusco F, Gana S, Alfei E, Scarano E, Nicita F, Bertini ES, Digilio MC, Zanni G, Barbuti D, Carlicchi E, Pichiecchio A, D'Arrigo S, Serpieri V, Valente EM.   +13 more
europepmc   +1 more source

A high-resolution spatial map of cilia-associated proteins in the human fallopian tube. [PDF]

Nat Commun
Hikmet F, Digre A, Hansen JN, Schon SB, Lundberg E, Olovsson M, Uhlén M, Méar L, Lindskog C.   +8 more
europepmc   +1 more source

Joubert syndrome gene <i>fam149b1</i> homolog, <i>xbx-4</i> , is required for multiple sensory behaviors. [PDF]

MicroPubl Biol
Ching K, Sternberg PW, Barr MM.
europepmc   +1 more source