Detalhe da pesquisa
1.
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients.
J Med Genet
; 58(4): 284-288, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32376792
2.
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.
J Hum Genet
; 66(5): 451-464, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33093641
3.
Age is an independent predictor of outcome in endometrial cancer patients: An Israeli Gynecology Oncology Group cohort study.
Acta Obstet Gynecol Scand
; 100(3): 444-452, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33090457
4.
Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature.
J Hum Genet
; 65(10): 865-873, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32483276
5.
ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.
PLoS Genet
; 12(3): e1005919, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008544
6.
Sentinel Nodes Detection with Near-infrared Imaging in Gynecological Cancer Patients: Ushering in an Era of Precision Medicine.
Isr Med Assoc J
; 21(6): 390-393, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31280507
7.
Is there a survival advantage in diagnosing endometrial cancer in asymptomatic postmenopausal patients? An Israeli Gynecology Oncology Group study.
Am J Obstet Gynecol
; 219(2): 181.e1-181.e6, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29792852
8.
SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.
Brain
; 140(4): 928-939, 2017 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334855
9.
Is intrauterine device a risk factor for failure of conservative management in patients with tubo-ovarian abscess? An observational retrospective study.
Arch Gynecol Obstet
; 297(5): 1201-1204, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29478102
10.
CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay.
Hum Mol Genet
; 24(22): 6485-91, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26358778
11.
UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.
J Med Genet
; 53(6): 397-402, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26545877
12.
Laparoscopic Management of an Invasive Mole Perforating the Uterus.
J Minim Invasive Gynecol
; 24(2): 199-200, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27544879
13.
Laparoscopic Management of Uterine Rupture After Early Second-Trimester Medical Abortion in a Patient With a Prior Cesarean Section.
J Minim Invasive Gynecol
; 23(6): 862, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27234883
14.
Are Ultrasonographic Findings Suggestive of Ovarian Stromal Edema Associated with Ischemic Adnexal Torsion?
Gynecol Obstet Invest
; 81(3): 262-6, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26336916
15.
A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex.
BMC Med Genet
; 15: 110, 2014 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-25267529
16.
A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.
Hum Mutat
; 34(4): 582-6, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23316006
17.
Mosaic embryo transfer-first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15.
F S Rep
; 3(3): 192-197, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36212558
18.
Multiple coupling of surface plasmons in quasiperiodic gratings.
Opt Lett
; 36(9): 1584-6, 2011 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21540935
19.
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Front Genet
; 12: 698595, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34326862
20.
The diagnosis of endometrial cancer in women with asymptomatic endometrial polyp does not increase survival rates: an israel gynecologic oncology group study.
Maturitas
; 148: 18-23, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34024347