Results 101 to 110 of about 1,144,628 (153)

Case Report: Identification of two novel <i>ALMS1</i> variants in a patient with a ciliopathy resembling Alström syndrome. [PDF]

Front Genet
Ran CQ, Yang M, Chen L, Liu X.
europepmc   +1 more source

Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome. [PDF]

Front Genet, 2022
Marozio L, Dassie F, Bertschy G, Canuto EM, Milan G, Cosma S, Maffei P, Benedetto C.   +7 more
europepmc   +1 more source

Nursing Management of Repeated Extubation Failure Following Colonic Volvulus Surgery in a Patient with Alstrom Syndrome: A Case Report. [PDF]

J Inflamm Res
Shen Y, Chen Y, Fu X, Jiang W, Li J.
europepmc   +1 more source

Alström Syndrome: Mutation Spectrum of ALMS1.

, 2015
Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multisystem involvement including early cone-rod retinal dystrophy and blindness, hearing loss, childhood obesity, type 2 diabetes ...
Collin, Gayle B, Farrow, Emily G, Dinwiddie, Darrell, Marshall, Jan D., Favaretto, Francesca, Miller, Neil A, Maffei, Pietro, Kingsmore, Stephen F, Muller, Jean, Dollfus, Hélène, Naggert, Juergen K, Milan, Gabriella, Vettor, Roberto   +12 more
core  

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

A Rare Cause of Infantile-Onset Cardiomyopathy With Ocular Manifestations: Alström Syndrome. [PDF]

Cureus, 2022
Snobar R, Mohamed M, AlKamali A, Gupta B.   +3 more
europepmc   +1 more source

Nyheter 2020 - rapport 2 [Elektronisk resurs] : dagens medieföretag - morgondagens affärsidé

, 2002
Innehåll: Börje Alström; På väg mot samverkan Börje Alström; Medieföretag eller kunskapsföretag Lowe Hedman; Medieföretag utan strategier? Asta Cepaite; Den föreställda framtiden Mikael Gulliksson; Ladsortsjournalister i nyhetsflödet Börje Alström; En ...
Alström, Börje,, Hedman, Lowe,
core  

Efficacy of Semaglutide in Pediatric Patients With Bardet-Biedl Syndrome and Alström Syndrome. [PDF]

JCEM Case Rep
Dauleh H, Mohammed I, Hussain K.
europepmc   +1 more source

Musculoskeletal deformities of Alström syndrome-a review of 55 cases. [PDF]

Orphanet J Rare Dis
Wanninayake S, Paisey R, Dabasia H, Cole A, Dawson C, Hiwot T.   +5 more
europepmc   +1 more source

A review of Alström syndrome: a rare monogenic ciliopathy. [PDF]

Intractable Rare Dis Res, 2021
Choudhury AR, Munonye I, Sanu KP, Islam N, Gadaga C.   +4 more
europepmc   +1 more source