Detalhe da pesquisa
1.
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.
Am J Hum Genet
; 109(10): 1828-1849, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084634
2.
Ocular Mucous Membrane Pemphigoid: The Effect of Risk Factors at Presentation on Treatment Outcomes.
Ophthalmology
; 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38452874
3.
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.
J Med Genet
; 60(8): 791-796, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36581449
4.
Lessons Learned From Ocular Graft versus Host Disease: An Ocular Surface Inflammatory Disease of Known Time of Onset.
Eye Contact Lens
; 50(5): 212-221, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38518064
5.
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
Am J Hum Genet
; 107(5): 989-999, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33053334
6.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Am J Hum Genet
; 107(5): 977-988, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33058759
7.
A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.
Am J Med Genet A
; 191(1): 100-107, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36308343
8.
Establishment of a bi-layered tissue engineered conjunctiva using a 3D-printed melt electrowritten poly-(ε-caprolactone) scaffold.
Int Ophthalmol
; 43(1): 215-232, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35932420
9.
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Genet Med
; 24(12): 2475-2486, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36197437
10.
Bevacizumab in High-Risk Corneal Transplantation: A Pilot Multicenter Prospective Randomized Control Trial.
Ophthalmology
; 129(8): 865-879, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358592
11.
Recognizing vitamin A deficiency: special considerations in low-prevalence areas.
Curr Opin Pediatr
; 34(2): 241-247, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35125379
12.
The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders.
Am J Med Genet C Semin Med Genet
; 187(2): 186-191, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33998134
13.
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.
Genet Med
; 23(4): 679-688, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33442026
14.
The cornea IV immunology, infection, neovascularization, and surgery chapter 1: Corneal immunology.
Exp Eye Res
; 205: 108502, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33607075
15.
Analyses and Correlation of Pathologic and Ocular Cutaneous Changes in Murine Graft versus Host Disease.
Int J Mol Sci
; 23(1)2021 Dec 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35008621
16.
Use of autologous plasma rich in growth factors fibrin membrane in the surgical management of ocular surface diseases.
Int Ophthalmol
; 41(7): 2347-2358, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33745034
17.
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Hum Mutat
; 41(12): 2087-2093, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906221
18.
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
Hum Mutat
; 41(1): 265-276, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31549748
19.
A six-attribute classification of genetic mosaicism.
Genet Med
; 22(11): 1743-1757, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32661356
20.
Topical Recombinant Human Nerve Growth Factor (Cenegermin) for Neurotrophic Keratopathy: A Multicenter Randomized Vehicle-Controlled Pivotal Trial.
Ophthalmology
; 127(1): 14-26, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585826