Detalhe da pesquisa
1.
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network.
Am J Hum Genet;
108(10): 1946-1963, 2021 10 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34529933
2.
Probable digenic inheritance of Diamond-Blackfan anemia.
Am J Med Genet A;
194(3): e63454, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37897121
3.
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.
Am J Med Genet A;
: e63597, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38511854
4.
Molecular Function and Contribution of TBX4 in Development and Disease.
Am J Respir Crit Care Med;
207(7): 855-864, 2023 04 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36367783
5.
A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.
Am J Med Genet A;
191(12): 2873-2877, 2023 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37622199
6.
The contribution of mosaicism to genetic diseases and de novo pathogenic variants.
Am J Med Genet A;
191(10): 2482-2492, 2023 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37246601
7.
One treatment with onabotulinumtoxinA relieves symptoms of overactive bladder in patients refractory to one or more oral medications.
Neurourol Urodyn;
42(6): 1203-1213, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37260130
8.
Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines.
Genet Med;
24(9): 1878-1887, 2022 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35767006
9.
British Association of Urological Surgeons (BAUS) consensus document: Management of female voiding dysfunction.
BJU Int;
129(2): 151-159, 2022 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33772995
10.
Botulinum toxin A injection to the external urethral sphincter for voiding dysfunction in females: A tertiary center experience.
Neurourol Urodyn;
41(8): 1793-1799, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35979710
11.
Functional outcomes of vaginal surgery for urethral extrusion of mid-urethral tape in women.
Int Urogynecol J;
33(8): 2251-2256, 2022 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33822257
12.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Am J Hum Genet;
103(4): 553-567, 2018 10 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30290151
13.
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
N Engl J Med;
379(22): 2131-2139, 2018 11 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30304647
14.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med;
23(2): 352-362, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33106617
15.
British Association of Urological Surgeons (BAUS) consensus document: management of bladder and ureteric injury.
BJU Int;
128(5): 539-547, 2021 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33835614
16.
British Association of Urological Surgeons (BAUS) and Nurses (BAUN) consensus document: management of the complications of long-term indwelling catheters.
BJU Int;
128(6): 667-677, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33811741
17.
A comparison of flow rate curve shape and video-urodynamic findings in women with lower urinary tract symptoms: can flow rate curve shape predict female bladder outflow obstruction or detrusor underactivity?
World J Urol;
39(5): 1591-1595, 2021 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32653952
18.
Is pre-operative urodynamic bladder function the true predictor of outcome of male sling for post prostatectomy incontinence?
World J Urol;
39(4): 1227-1232, 2021 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32506387
19.
Fertility and sexuality issues in congenital lifelong urology patients: female aspects.
World J Urol;
39(4): 1021-1027, 2021 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32989556
20.
Fertility and sexuality issues in congenital lifelong urology patients: male aspects.
World J Urol;
39(4): 1013-1019, 2021 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32067073