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A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD)

article

Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors

artículo científico publicado en 2020

BRCA mutation carriers do not have compromised ovarian reserve

artículo científico publicado en 2014

Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally

artículo científico publicado en 2020

Does elevated human chorionic gonadotropin alone trigger spontaneous ovarian hyperstimulation syndrome?

artículo científico publicado en 2007

Early second-trimester molar tooth sign

artículo científico publicado en 2014

Genome-wide de novo methylation in epithelial ovarian cancer

artículo científico publicado en 2011

Hereditary non-polyposis colorectal cancer or Lynch syndrome: the gynaecological perspective.

artículo científico publicado en 2009

Intrapartum fetal heart rate patterns of trisomy 21 fetuses: A case-control study

artículo científico publicado en 2015

Israeli Society of Medical Genetics NIPT Committee Opinion 072013: Non-invasive prenatal testing of cell-free DNA in maternal plasma for detection of fetal aneuploidy

artículo científico publicado en 2014

Managing menopausal symptoms after gynecological cancer

scientific article published on September 2009

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome

artículo científico publicado en 2013

Prelabor rupture of the membranes at term: when to induce labor?

artículo científico publicado en 2004

Prenatal observation of nystagmus, cataracts, and brain abnormalities in a case of Zellweger spectrum disorder syndrome

artículo científico publicado en 2016

Prolonged operative time of repeat cesarean is a risk marker for post-operative maternal complications

scholarly article by Misgav Rottenstreich et al published 4 December 2018 in BMC Pregnancy and Childbirth

Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel

artículo científico publicado en 2015

Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?

artículo científico publicado en 2020

Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center

artículo científico publicado en 2020

The Yield of Chromosomal Microarray in Pregnancies Complicated with Fetal Growth Restriction Can Be Predicted According to Clinical Parameters

artículo científico publicado en 2020

The counseling and management of young healthy BRCA mutation carriers

scientific article published on October 2009

Uterine cancer in Jewish Israeli BRCA1/2 mutation carriers

scientific article published on 29 November 2018