Search Results - "Moran, Gal"
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1
A Pulsating Leg
Published in The New England journal of medicine (28-01-2021)“…A 21-month-old boy presented with a pruritic rash on his left leg that was thought to be at the site of a recent insect bite. A video shows a pulsating…”
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2
Reduction of ileocolic intussusception under sedation or anaesthesia: a systematic review of complications
Published in Archives of disease in childhood (01-04-2022)“…BackgroundDespite the increased use of sedation in children undergoing stressful procedures, reduction of ileocolic intussusception (RII) is usually performed…”
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3
Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2
Published in Proceedings of the National Academy of Sciences - PNAS (30-09-2014)“…In the Ashkenazi Jewish (AJ) population of Israel, 11% of breast cancer and 40% of ovarian cancer are due to three inherited founder mutations in the cancer…”
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4
Should COVID-19 vaccines be mandated in schools? - an international caregiver perspective
Published in Vaccine (26-08-2022)“…•37% of caregivers opposed vaccine mandates at all school levels.•Only 20% of caregivers agreed with immediate vaccine mandates.•Vaccine safety was the most…”
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5
Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders
Published in Cell research (01-02-2018)“…Neural progenitor cells undergo somatic retrotransposition events, mainly involving L1 elements, which can be potentially deleterious. Here, we analyze the…”
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Triage performance in adolescent patients with SARS-CoV-2 infection in Israel
Published in The American journal of emergency medicine (01-09-2022)“…The aim of this study was to assess the performance of the Pediatric Canadian Triage and Acuity Scale (PaedCTAS) in adolescent patients with severe acute…”
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7
eP099: Wiedemann-Rautenstrauch syndrome- New pathways for an old disease
Published in Genetics in medicine (01-03-2022)Get full text
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8
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course
Published in Brain (London, England : 1878) (01-12-2019)“…Ohtahara syndrome, early infantile epileptic encephalopathy with a suppression burst EEG pattern, is an aetiologically heterogeneous condition starting in the…”
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Pediatric Hospitalizations After School Reopening During the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Alpha (B.1.1.7) Variant Spread: A Multicenter Cross-sectional Study in Israel
Published in Clinical infectious diseases (24-08-2022)“…Abstract This multicenter, cross-sectional study provides evidence on severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)–associated emergency…”
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10
Pediatric Hospitalizations after School Reopening during the SARS-CoV-2 Alpha (B.1.1.7) Variant Spread: A Multicenter Cross-sectional Study in Israel
Published in Clinical infectious diseases (29-01-2022)“…This multicenter, cross-sectional study provides evidence on SARS-CoV-2-associated ED visits and hospitalizations in pediatric wards and intensive care units,…”
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11
Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability
Published in American journal of medical genetics. Part A (01-12-2014)“…Developmental malformations of the vitreoretinal vasculature are a heterogeneous group of conditions with various modes of inheritance, and include familial…”
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12
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
Published in Scientific reports (27-09-2021)“…Exome sequencing (ES) is an important diagnostic tool for individuals with neurodevelopmental disorders (NDD) and/or multiple congenital anomalies (MCA)…”
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13
Endocrine outcome in long-term survivors of childhood brain tumors
Published in Hormone research in paediatrics (01-01-2011)“…To evaluate the rates of endocrine abnormalities in survivors of childhood brain tumors and identify risk factors. The medical charts of patients were reviewed…”
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14
Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants
Published in Breast cancer research and treatment (01-06-2020)“…Background Carriers of pathogenic variants (PVs) in moderate–high-penetrance cancer susceptibility genes are offered tailored surveillance schemes for early…”
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15
A novel homozygous splice site mutation in NALCN identified in siblings with Cachexia, Strabismus, Severe Intellectual Disability, Epilepsy and Abnormal Respiratory Rhythm
Published in European journal of medical genetics (01-04-2016)“…Abstract We studied three siblings, born to consanguineous parents who presented with severe intellectual disability, cachexia, strabismus, seizures and…”
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16
Which Anthropometric Measure Best Correlates with Neonatal Fat Mass at Birth?
Published in American journal of perinatology (01-07-2016)“…Objective Body composition provides additional information than weight alone. There is currently no accepted anthropometric measure of adiposity in infants,…”
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Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing
Published in BMC medical genomics (13-05-2016)“…Genetic screening to identify carriers of autosomal recessive diseases has become an integral part of routine prenatal care. In spite of the rapid growth of…”
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18
Egr-1 upregulates the Alzheimer's disease presenilin-2 gene in neuronal cells
Published in Gene (30-10-2003)“…Regulation of the Alzheimer's disease (AD)-related gene, presenilin-2 (PSEN2), was analyzed in neuronal (SK-N-SH) and non-neuronal (human embryonic kidney 293,…”
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