Sort   by:  
 Page size 
UnknownPsychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study.
Not available
S-EPMC10103043 | biostudies-literature
UnknownMutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.
Not available
S-EPMC1592568 | biostudies-literature
ProteomicsThe ITM2B-associated retinal dystrophy mutation modifies BRI23 peptide interactions in the human retina
BRI23, composed of the 23 last amino acids of the integral transmembrane protein 2B (ITM2B) C-terminus, is associated with several neurodegenerative diseases, including retinal dystrophy (RD) and familial dementia. Its role in the retina remains poorly understood. This study provides a comprehensive...
ORGANISM(S): Homo sapiens (Human) 
2025-07-25 | PXD060682 | Pride
Bri23 Retina Retinal dystrophy Protein interactions Itm2b 
TranscriptomicsTranscription profiling of wild type and Clcn7-/- mouse hippocampus at p14
Comparison of expression levels between wild type and Clcn7-/- mouse hippocampus at p14. 3 wild type and 3 mutant mice were studied.
ORGANISM(S): Mus musculus 
2005-03-01 | E-MEXP-242 | biostudies-arrayexpress
UnknownNext Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes.
Not available
S-EPMC6947157 | biostudies-literature
UnknownA New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency.
Not available
S-EPMC8122890 | biostudies-literature
UnknownPrevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease.
Not available
S-EPMC6829239 | biostudies-literature
UnknownA Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness.
Not available
S-EPMC5937575 | biostudies-literature
UnknownMutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.
Not available
S-EPMC6639433 | biostudies-literature
UnknownNovel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients.
Not available
S-EPMC6409913 | biostudies-literature
Sort   by:  
 Page size