Detalhe da pesquisa
1.
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Am J Hum Genet
; 111(3): 594-613, 2024 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38423010
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
Inglês
| MEDLINE | ID: mdl-38353311
3.
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome.
J Med Genet
; 60(1): 99-105, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35264407
4.
[THE DIFFERENTIAL DIAGNOSIS OF EXTREMELY HIGH MATERNAL SERUM ALPHA FETOPROTEIN - A CASE REPORT].
Harefuah
; 162(6): 366-369, 2023 Jun.
Artigo
Hebraico
| MEDLINE | ID: mdl-37394439
5.
Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families.
Am J Med Genet A
; 188(1): 336-342, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34585832
6.
The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing.
Prenat Diagn
; 42(7): 881-889, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34132406
7.
Is it time for prenatal chromosomal-microarray analysis to all women? A review of the diagnostic yield in structurally normal fetuses.
Curr Opin Obstet Gynecol
; 33(2): 143-147, 2021 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33620892
8.
Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally.
Arch Gynecol Obstet
; 303(1): 85-92, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32761367
9.
The Yield of Chromosomal Microarray in Pregnancies Complicated with Fetal Growth Restriction Can Be Predicted According to Clinical Parameters.
Fetal Diagn Ther
; 48(2): 140-148, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33352557
10.
Grandparental genotyping enhances exome variant interpretation.
Am J Med Genet A
; 182(4): 689-696, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32027463
11.
Prevalence and Characteristics of Postpartum Vulvovaginal Atrophy and Lack of Association With Postpartum Dyspareunia.
J Low Genit Tract Dis
; 24(4): 411-416, 2020 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-32569019
12.
Autosomal dominant inheritance with sex-limited infertility.
Am J Med Genet A
; 191(6): 1672-1674, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36891999
13.
Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies.
Prenat Diagn
; 38(2): 135-139, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29327352
14.
Third- or Fourth-Degree Intrapartum Anal Sphincter Tears Are Associated With Levator Ani Avulsion in Primiparas.
J Ultrasound Med
; 35(4): 709-15, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26960799
15.
Third- or Fourth-Degree Intrapartum Anal Sphincter Tears Are Associated With Levator Ani Avulsion in Primiparas.
J Ultrasound Med
; 35(4): 709-715, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-28027607
16.
GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.
Blood
; 132(17): 1851-1854, 2018 10 25.
Artigo
Inglês
| MEDLINE | ID: mdl-30171045
17.
Detailed transabdominal fetal anatomic scanning in the late first trimester versus the early second trimester of pregnancy.
J Ultrasound Med
; 34(1): 143-9, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25542950
18.
A Case Report of Familial Mayer-Rokitansky-Küster-Hauser Syndrome as Part of the Phenotypic Spectrum of the 2q37 Deletion.
J Pediatr Adolesc Gynecol
; 37(1): 95-97, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37734585
19.
Tumor STAT3 tyrosine phosphorylation status, as a predictor of benefit from adjuvant chemotherapy for breast cancer.
Breast Cancer Res Treat
; 138(2): 407-13, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23446809
20.
Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics.
Eur J Med Genet
; 66(10): 104825, 2023 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-37659595