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1.
Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.
Int Ophthalmol
; 43(10): 3659-3665, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37542530
2.
Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.
Mol Vis
; 24: 105-114, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29422768
3.
Next generation sequencing-based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes.
Am J Med Genet A
; 176(12): 2637-2645, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30450742
4.
Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome.
Ophthalmic Plast Reconstr Surg
; 34(2): e61-e63, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29329175
5.
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.
Clin Exp Ophthalmol
; 45(9): 875-883, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-28488383
6.
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.
Eur J Med Genet
; 62(12): 103588, 2019 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-30472488
7.
Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome.
Genet Test Mol Biomarkers
; 21(12): 742-746, 2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-29131652
8.
Silver-Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient.
Clin Dysmorphol
; 31(2): 94-97, 2022 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34750319
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