Detalhe da pesquisa
1.
Prostate Health Index Density Outperforms Prostate-specific Antigen Density in the Diagnosis of Clinically Significant Prostate Cancer in Equivocal Magnetic Resonance Imaging of the Prostate: A Multicenter Evaluation.
J Urol
; 210(1): 88-98, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37036248
2.
Pathogenicity and selective constraint on variation near splice sites.
Genome Res
; 29(2): 159-170, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30587507
3.
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
4.
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Am J Med Genet A
; 188(10): 2958-2968, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904974
5.
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Am J Med Genet A
; 188(12): 3492-3504, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36135330
6.
Clinicopathological predictors of finding additional inguinal lymph node metastases in penile cancer patients after positive dynamic sentinel node biopsy: a European multicentre evaluation.
BJU Int
; 130(1): 126-132, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927790
7.
Local anaesthetic transperineal (LATP) prostate biopsy using a probe-mounted transperineal access system: a multicentre prospective outcome analysis.
BJU Int
; 128(3): 311-318, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33448607
8.
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
Am J Hum Genet
; 101(3): 466-477, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28886345
9.
Treatment of urinary tract infections in the old and fragile.
World J Urol
; 38(11): 2709-2720, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32221713
10.
A Novel Inspection Technique for Electronic Components Using Thermography (NITECT).
Sensors (Basel)
; 20(17)2020 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32899391
11.
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Am J Med Genet C Semin Med Genet
; 181(4): 557-564, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721432
12.
Outcomes of long-term follow-up of asymptomatic renal stones and prediction of stone-related events.
BJU Int
; 123(3): 485-492, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30253029
14.
A study into the association between local recurrence rates and surgical resection margins in organ-sparing surgery for penile squamous cell cancer.
BJU Int
; 122(4): 576-582, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29604228
15.
Comparison of super-mini PCNL (SMP) versus Miniperc for stones larger than 2 cm: a propensity score-matching study.
World J Urol
; 36(6): 955-961, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29387932
16.
Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Genet Med
; 19(8): 900-908, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28151491
17.
The Efficacy and Safety of OnabotulinumtoxinA or Solifenacin Compared with Placebo in Solifenacin Naïve Patients with Refractory Overactive Bladder: Results from a Multicenter, Randomized, Double-Blind Phase 3b Trial.
J Urol
; 198(1): 167-175, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28161352
18.
Editorial Comment to Human papilloma virus prevalence in penile cancer: A multicenter study from Denmark (DaPeCa-6).
Int J Urol
; 28(4): 468, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33745211
19.
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.
Hum Mol Genet
; 21(18): 3969-83, 2012 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22692683
20.
Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort.
Eur J Hum Genet
; 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38627541