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Hledat publikace relevantní k dotazu "Ocular phenotype"
Ocular phenotype
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Publikace
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publication
Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice
2021 |
1. lékařská fakulta
publication
Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles
2021 |
1. lékařská fakulta
publication
Variabilní oční fenotypy u zadní polymorfní dystrofie rohovky způsobené mutacemi v genu ZEB1
2010 |
1. lékařská fakulta
publication
Syndrom blefarofimóza-ptóza-inverzní epikantus
2016 |
1. lékařská fakulta
publication
Should Patients with Kearns -Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat,Commonly Associated with Fuchs Endothelial Corneal Dystrophy
2021 |
1. lékařská fakulta
publication
Ophthalmological aspects of Pierson syndrome
2008 |
2. lékařská fakulta
publication
Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case
2019 |
1. lékařská fakulta
publication
Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
2021 |
1. lékařská fakulta
publication
Analysis of KERA in four families with cornea plana identifies two novel mutations
2018 |
1. lékařská fakulta
publication
Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria
2018 |
1. lékařská fakulta
publication
Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants
2016 |
1. lékařská fakulta