Concepedia

Author

Hannah Bombei

University of Iowa Hospitals and Clinics

Also Known As

Hannah Bombei, Hannah M Bombei, Hannah M. Bombei

13

Publications

447

Citations

7

H-Index

21

Concepts

All Affiliations

University of Iowa Hospitals and ClinicsWinnMedUniversity of California, San FranciscoUniversity Hospital LeipzigUniversity Hospital Southampton NHS Foundation Trust
HB

About

Hannah Bombei is an author at University of Iowa Hospitals and Clinics specializing in gene expression, medicine, and genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

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31

2

Social Sciences

1

1

18

3

Cell Biology

1

1

13

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Cellular Physiology

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1

18

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Cell Development

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13

Hannah Bombei

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7

Publications

445

Citations

7

H-Index

YearCitations

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

Mustapha Amyere, Nicole Revençu, Raphaël Helaers,

Circulation

2017

282

Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome

Yuri A. Zárate, Constance Smith‐Hicks, Carol L. Greene,

American Journal of Medical Genetics Part A

2018

73

Identification of a Novel Homozygous Multi-Exon Duplication in <i>RYR2</i> Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community

David J. Tester, Hannah Bombei, Kristi K. Fitzgerald,

JAMA Cardiology

2020

25

Genotype–phenotype correlation at codon 1740 of <scp><i>SETD2</i></scp>

Rachel Rabin, Alireza Radmanesh, Ian A. Glass,

American Journal of Medical Genetics Part A

2020

23

Molecular characterization of the calcium release channel deficiency syndrome

David J. Tester, Cs John Kim, Samantha K. Hamrick,

JCI Insight

2020

18

<i>De novo</i> missense variants in FBXO11 alter its protein expression and subcellular localization

Anne Gregor, Tanja Meerbrei, Thorsten Gerstner,

Human Molecular Genetics

2021

13

Dental issues in lacrimo-auriculo-dento-digital syndrome

M.J. Hajianpour, Hannah Bombei, Scott M. Lieberman,

The Journal of the American Dental Association

2016

11

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