Results 171 to 180 of about 2,862 (212)

Interaction of Working Memory, Compressor Speed and Background Noise Characteristics [PDF]

, 2014
MacDonald, Ewen, Ohlenforst, Barbara, Souza, Pamela   +2 more
core  

Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report. [PDF]

BMC Pediatr
Hu M, Chen S, Wu J, Wang R.
europepmc   +1 more source

Mesenchymal-specific Alms1 knockout in mice recapitulates metabolic features of Alström syndrome. [PDF]

Mol Metab
McKay EJ, Luijten I, Weng X, Martinez de Morentin PB, De Frutos González E, Gao Z, Kolonin MG, Heisler LK, Semple RK.   +8 more
europepmc   +1 more source

Alström syndrome: A rare association of retinitis pigmentosa with insulin resistance syndrome

Indian Journal of Endocrinology and Metabolism, 2013
Irfan Yousuf Wani, Ashraf Ganie, Iqra Mehraj, Yasser Yousuf Wani, Muzafar Naik   +4 more
doaj   +1 more source

A Case of Siblings with End-Stage Kidney Disease and Retinal Degeneration Suggestive of Partial Alström Syndrome.

Nephron
Shinkawa K, Ishii A, Kimura T, Toriu N, Nakagawa N, Wada T, Sakai K, Endo S, Yokoi H, Matsubara T, Kosaki K, Kosugi S, Yanagita M.   +12 more
europepmc   +1 more source

Alström Syndrome: A Challenging Case Study of a Female Saudi Patient With Type 2 Diabetes Mellitus and Complete Vision Loss. [PDF]

Cureus
Alamri AS, Mahmoud HA, Abu Alnasr AA, Alahmadi AK, Qari YH.   +4 more
europepmc   +1 more source

Two Siblings with Alstrom Syndrome

, 2018
Cebeci, Ayse Nurcan, YEŞİL, GÖZDE, Ekici, Baris   +2 more
openaire   +1 more source

Phenoage and longitudinal changes on transthoracic echocardiography in Alström syndrome: a disease of accelerated ageing? [PDF]

Geroscience
Patel L, Roy A, Alvior AMB, Yuan M, Baig S, Bunting KV, Hodson J, Gehmlich K, Lord JM, Geberhiwot T, Steeds RP.   +10 more
europepmc   +1 more source

The Alstrom Syndrome: A Multisystem Genetic Disorder Presenting as a Cardiac Crisis: A Case Report [PDF]

Singireddy Dattakshaya, Tata Leela Ram Gopal   +1 more
openalex   +1 more source

Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family. [PDF]

Mol Genet Genomic Med
Abosabie SAS, Abosabie SA, Alfaifi J, Alqahtani YA, Shati AA, Alotaibi NA, Alghamdi OA, Alotaibi GN, Baabdullah AA, Kabrah LK, Kamal NM, Oshi MAM, Abdallah EAA.   +12 more
europepmc   +1 more source