Detalhe da pesquisa
1.
Investigation into the genetics of fetal congenital lymphatic anomalies.
Prenat Diagn
; 43(6): 703-716, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36959127
2.
Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa.
BMC Ophthalmol
; 22(1): 441, 2022 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36384460
3.
Congenital Stationary Night Blindness: Clinical and Genetic Features.
Int J Mol Sci
; 23(23)2022 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36499293
4.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Am J Hum Genet
; 102(1): 69-87, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290338
5.
Decoding NF1 Intragenic Copy-Number Variations.
Am J Hum Genet
; 97(2): 238-49, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26189818
6.
7.
Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients.
Neurogenetics
; 18(3): 169-174, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28285357
8.
Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene.
Hum Mutat
; 35(7): 891-8, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24760680
9.
Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29.
BMC Med Genomics
; 17(1): 94, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38641846
10.
Maternal Mosaicism in SSBP1 Causing Optic Atrophy with Retinal Degeneration: Implications for Genetic Counseling.
Res Sq
; 2023 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993412
11.
Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling.
Orphanet J Rare Dis
; 18(1): 131, 2023 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37259171
12.
Clinical Characteristics and Genetic Variants in Taiwanese Patients With PROM1-Related Inherited Retinal Disorders.
Invest Ophthalmol Vis Sci
; 64(14): 25, 2023 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37975849
13.
Glycated Hemoglobin < 6.5% Is Associated With Uroseptic Shock in Diabetic Patients With Urinary Tract Infection.
Front Med (Lausanne)
; 7: 515506, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33344465
14.
Risk factors for uroseptic shock in hospitalized patients aged over 80 years with urinary tract infection.
Ann Transl Med
; 8(7): 477, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32395521
15.
Molecular profiling of gynecologic cancers for treatment and management of disease - demonstrating clinical significance using the AMP/ASCO/CAP guidelines for interpretation and reporting of somatic variants.
Cancer Genet
; 242: 25-34, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992506
16.
Molecular profiling of CNS tumors for the treatment and management of disease.
J Clin Neurosci
; 71: 311-315, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31859178
17.
Mutation Yield of a Custom 212-Gene Next-Generation Sequencing Panel for Solid Tumors: Clinical Experience of the First 260 Cases Tested Using the JAX ActionSeq™ Assay.
Mol Diagn Ther
; 24(1): 103-111, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31754995
18.
Urolithiasis Is a Risk Factor for Uroseptic Shock and Acute Kidney Injury in Patients With Urinary Tract Infection.
Front Med (Lausanne)
; 6: 288, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31867338
19.
Risk Factors for Development of Acute Kidney Injury in Patients with Urinary Tract Infection.
PLoS One
; 10(7): e0133835, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26213991
20.
Risk Factors for Development of Septic Shock in Patients with Urinary Tract Infection.
Biomed Res Int
; 2015: 717094, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26380292