Results 151 to 160 of about 2,862 (212)

Alstrom syndrome.

Indian pediatrics, 1992
R A, Garg, J, Singh, B B, Mathur
openaire   +1 more source

Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients. [PDF]

Front Genet, 2022
Zhang Q, Ding Y, Feng B, Tang Y, Chen Y, Wang Y, Chang G, Liu S, Wang J, Li Q, Fu L, Wang X.   +11 more
europepmc   +1 more source

A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome. [PDF]

Front Genet, 2022
Shi J, Xu K, Zhang X, Xie Y, Chang H, Li Y.   +5 more
europepmc   +1 more source

Homozygosity Mapping of Alstrom Syndrome to Chromosome 2p [PDF]

, 1997
Gayle B. Collin, J.D. Marshall, L. R. Cardon, Patsy M. Nishina   +3 more
openalex   +1 more source

Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome. [PDF]

Intern Med, 2021
Wang C, Luo X, Wang Y, Liu Z, Wu S, Wang S, Lan X, Xu Q, Xu W, Yuan F, Wang A, Zeng F, Jia J, Chen Y.   +13 more
europepmc   +1 more source

Epiphysenschäden bei endokrinen Erkrankungen [PDF]

, 1987
Fink, R., Pförringer, W., Rosemeyer, B., Scriba, Peter Christian   +3 more
core   +1 more source

Ocular Characteristics and Genotype-Oriented Disease Spectrum of Alström Syndrome in Taiwan. [PDF]

Transl Vis Sci Technol
Cheng CC, Lin CY, Ko TC, Huang YS, Huang CH, Yang CH, Ho TC, Chen PL, Chen TC.   +8 more
europepmc   +1 more source

Novel mutations of the Alström syndrome 1 gene in an infant with dilated cardiomyopathy: A case report. [PDF]

World J Clin Cases, 2022
Jiang P, Xiao L, Guo Y, Hu R, Zhang BY, He Y.   +5 more
europepmc   +1 more source

The Alstrom syndrome: ophthalmic histopathology and retinal ultrastructure. [PDF]

, 1984
J. Sebag, D. M. Albert, Joseph L. Craft
openalex   +1 more source

Infantile Dilated Cardiomyopathy in Alström Syndrome. [PDF]

Cureus
Van Huffel J, Derycke E, Detaille T, Moniotte S, Hubrechts J.   +4 more
europepmc   +1 more source