Detalhe da pesquisa
1.
Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases.
J Hum Genet
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38632380
2.
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study.
Prenat Diagn
; 44(4): 511-518, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38353311
3.
"We hear and we fear" - Insights of 1203 Women on Personnel Conversations During Cesarean Delivery.
Matern Child Health J
; 28(2): 198-205, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37980701
4.
The association between obesity and the success of trial of labor after cesarean delivery (TOLAC) in women with past vaginal delivery.
J Perinat Med
; 52(2): 158-164, 2024 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38098122
5.
Lessons learned from the first national population-based genetic carrier-screening program for Duchenne muscular dystrophy.
Genet Med
; 25(12): 100981, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37712502
6.
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
Brain
; 145(7): 2301-2312, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373813
7.
A call for public funding of invasive and non-invasive prenatal testing.
J Perinat Med
; 51(8): 992-996, 2023 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37207994
8.
[ADVANCES AND CHALLENGES IN THE FIELD OF GENETIC TESTING - AN INTRODUCTORY ARTICLE].
Harefuah
; 162(6): 340-343, 2023 Jun.
Artigo
em Hebraico
| MEDLINE | ID: mdl-37394434
9.
[SUMMARY AND UPDATES IN THE FIELD OF GENETIC TESTING IN ISRAEL - AS OF 2022].
Harefuah
; 162(6): 386-392, 2023 Jun.
Artigo
em Hebraico
| MEDLINE | ID: mdl-37394443
10.
[CHARACTERIZATION OF THE INDICATIONS FOR PERFORMING GENE PANEL SEQUENCING TESTS IN A GENOMIC CENTER].
Harefuah
; 162(6): 376-380, 2023 Jun.
Artigo
em Hebraico
| MEDLINE | ID: mdl-37394441
11.
[HOW SIMPLE IS "SIMPLE" GENETIC COUNSELING?]
Harefuah
; 162(6): 381-385, 2023 Jun.
Artigo
em Hebraico
| MEDLINE | ID: mdl-37394442
12.
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
Hum Mol Genet
; 29(11): 1772-1783, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31108500
13.
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Ann Neurol
; 89(3): 485-497, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33236446
14.
Residual risk for clinically significant copy number variants in low-risk pregnancies, following exclusion of noninvasive prenatal screening-detectable findings.
Am J Obstet Gynecol
; 226(4): 562.e1-562.e8, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34762861
15.
The condemned fundal pressure maneuver: time to reconsider?
Arch Gynecol Obstet
; 306(6): 1953-1957, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35277748
16.
Combination of early pushing with extended second stage increases the rates of spontaneous vaginal deliveries, but might be associated with adverse maternal and neonatal outcomes.
Arch Gynecol Obstet
; 305(1): 39-45, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34061246
17.
Prenatal and postnatal chromosomal microarray analysis in 885 cases of various congenital heart defects.
Arch Gynecol Obstet
; 306(4): 1007-1013, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35083553
18.
The anxiety caused by abnormal results of Down syndrome screening tests.
J Obstet Gynaecol
; 42(7): 2893-2898, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35993543
19.
Colchicine treatment increases the risk for fetal chromosomal aberrations-an observational study and systematic literature review.
Rheumatology (Oxford)
; 60(5): 2342-2347, 2021 05 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33179053
20.
A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.
Am J Med Genet A
; 185(10): 3161-3166, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34145742