Detalhe da pesquisa
1.
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.
Hum Mol Genet
; 33(11): 945-957, 2024 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38453143
2.
Systematic assessment of the contribution of structural variants to inherited retinal diseases.
Hum Mol Genet
; 32(12): 2005-2015, 2023 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36811936
3.
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Genet Med
; : 101106, 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38420906
4.
Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series.
Int J Mol Sci
; 23(21)2022 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36362148
5.
Fellowships for genetic counselors: An emerging opportunity for additional training and specialization.
J Genet Couns
; 32(6): 1276-1279, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37776072
6.
In Vivo Time-Lapse Imaging in the Zebrafish Lateral Line: A Flexible, Open-Ended Research Project for an Undergraduate Neurobiology Laboratory Course.
J Undergrad Neurosci Educ
; 13(3): A215-24, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26240532
7.
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.
Ophthalmic Genet
; 45(2): 167-174, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37592806
8.
A DOUBLE HYPERAUTOFLUORESCENT RING IN A 33-YEAR-OLD-FEMALE PATIENT.
Retin Cases Brief Rep
; 17(4S): S15-S18, 2023 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067420
9.
The genetic counselor workforce in inherited retinal disease clinics: a descriptive assessment.
Ophthalmic Genet
; 44(6): 553-558, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37530443
10.
Vitelliform maculopathy in MELAS syndrome.
Am J Ophthalmol Case Rep
; 30: 101842, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37096132
11.
Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases.
Genes (Basel)
; 14(2)2023 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833373
12.
Systematic assessment of the contribution of structural variants to inherited retinal diseases.
bioRxiv
; 2023 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36789417
13.
Retrograde Ret signaling controls sensory pioneer axon outgrowth.
Elife
; 82019 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31476133
14.
Maryland medical assistance increases payment for primary care services.
Md Med
; 14(2): 22, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-25757269