Results 111 to 120 of about 11,428 (200)

Molecular confirmation of the causes of inherited visual impairment in Northern Pakistan [PDF]

open access: yes, 2009
Families with inherited visual impairment were identified and examined from January 2000 to December 2005 and given a clinical diagnosis. Known genes and loci were screened for mutations or linkage at Institute of Ophthalmology and Neurosciences ...
Adhi, Mehreen   +4 more
core   +2 more sources

Impaired IGF1-GH axis and new therapeutic options in Alström Syndrome patients: a case series [PDF]

open access: yes, 2009
Cristina Maria Mihai   +46 more
core   +1 more source

From Usher syndrome to Bardet-Biedl syndrome: Diagnosis after an atypical presentation. [PDF]

open access: yesClin Nephrol Case Stud
Milheiro J   +5 more
europepmc   +1 more source

CILIOPATIAS E DOENÇA RENAL [PDF]

open access: yes, 2012
Francisco Fabião Fernandes Correia Gouveia
core  

The dynamic cilium in human diseases [PDF]

open access: yes, 2009
Anna D'Angelo   +165 more
core   +1 more source

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