Detalhe da pesquisa
1.
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
Am J Hum Genet
; 108(1): 176-185, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33245860
2.
Prenatal diagnosis of PORCN-related developmental syndrome in a fetus: A novel phenotype.
Prenat Diagn
; 43(11): 1472-1476, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37698465
3.
Prenatal diagnosis of CLCN4-related neurodevelopmental disorder in fetuses with congenital brain anomalies.
Prenat Diagn
; 43(9): 1247-1250, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37409888
4.
WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.
J Med Genet
; 59(1): 65-74, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34006618
5.
The Postpandemic Nursing Workforce: Increasing Fill Rates and Reducing Workload Through a Generational Design of Workforce Layers.
Nurs Adm Q
; 47(1): 4-12, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36469369
6.
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
PLoS Genet
; 15(3): e1007605, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30856165
7.
Decontamination of metals from firefighter turnout gear.
J Occup Environ Hyg
; 19(2): 79-86, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34871134
8.
An Effective Response to Healthcare Disparities Begins With a Strategic Plan.
Front Health Serv Manage
; 39(2): 27-31, 2022 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36413473
9.
Diagnostic and perinatal outcomes in consanguineous couples with a structural fetal anomaly: A cohort study.
Acta Obstet Gynecol Scand
; 100(3): 418-424, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33128783
10.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lancet
; 393(10173): 747-757, 2019 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30712880
11.
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Genet Med
; 22(3): 598-609, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31700164
12.
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Genet Med
; 22(11): 1838-1850, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32694869
13.
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.
Am J Med Genet A
; 182(7): 1637-1654, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319732
14.
Evolution of a prenatal genetic clinic-A 10-year cohort study.
Prenat Diagn
; 40(5): 618-625, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32037575
15.
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Genet Med
; 21(5): 1065-1073, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293990
16.
Implementation of cell-free DNA-based non-invasive prenatal testing in a National Health Service Regional Genetics Laboratory.
Genet Res (Camb)
; 101: e11, 2019 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31813398
17.
Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases.
Prenat Diagn
; 39(12): 1064-1069, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31393021
18.
Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.
J Am Soc Nephrol
; 28(3): 963-970, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27659767
19.
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Hum Mutat
; 38(7): 764-777, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28432734
20.
Addition of Fluorescence Lifetime Spectroscopy to the Tool Kit Used to Study the Formation and Degradation of Luminescent Quantum Dots in Solution.
Langmuir
; 33(12): 3018-3027, 2017 03 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28245133