Suchergebnisse - "Singer, Amihood"

PubPharm (74)

1

National Rapid Genome Sequencing in Neonatal Intensive Care

enthalten in: JAMA network open | 2024

von Marom, D. | Mory, A. | Reytan-Miron, S. | +45

2

Lessons learned from the first national population-based genetic carrier-screening program for Duchenne muscular dystrophy

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Singer, A. | Aartsma-Rus, A. | Grinshpun-Cohen, J. | +1

3

The new face of cystic fibrosis in the era of population genetic carrier screening

enthalten in: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2023

von Dotan, M. | Blau, H. | Singer, A. | +21

4

MOH SCREENING FOR TBCD IN COCHIN JEWS : COLLABORATION BETWEEN MEDICAL, RESEARCH AND COMMUNITY MEMBERS IN ACHIEVING PUBLIC HEALTH GOALS

enthalten in: Harefuah | 2023

von Grinshpun-Cohen, J. | Marans, R. | Singer, A.

5

SUMMARY AND UPDATES IN THE FIELD OF GENETIC TESTING IN ISRAEL - AS OF 2022

enthalten in: Harefuah | 2023

von Singer, A. | Grinshpun-Cohen, J. | Sagi-Dain, L.

6

Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels

enthalten in: Human genomics | 2023

von Einhorn, Y. | Einhorn, M. | Kurolap, A. | +10

7

The anxiety caused by abnormal results of Down syndrome screening tests

enthalten in: Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology | 2022

von Sagi-Dain, L. | Peleg, A. | Sagi, S. | +1

8

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness geneATOH1

enthalten in: bioRxiv.org | 2022

von Brownstein, Z. | Gulsuner, S. | Walsh, T. | +47

9

Methodological drawbacks in the alleged association between foetal sonographic anomalies and autism

enthalten in: Brain : a journal of neurology | 2022

von Sagi-Dain, L. | Weisz, B. | Haratz Krajden, K. | +3

CommentOn: Brain. 2022 Jan 17;:null. - PMID 35037687

10

Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay

enthalten in: Frontiers in pediatrics | 2022

von Eliyahu, A. | Barel, O. | Greenbaum, L. | +15

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