Paul Kruszka

Chief Medical Officer

United States

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Articles (10)

Year:

2024

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2023

Year:

2023

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2022

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2020

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2020

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2020

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2020

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2020

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2020

Collaborators (5)

Teodoro Jerves

Assistant Professor

Yale University School of Medicine

UNITED STATES

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Heiko M. Reutter

University Hospital Bonn

GERMANY

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Robert Lipinski

Associate Professor

University of Wisconsin-Madison

UNITED STATES

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Philippe Campeau

faculty of medicine university of montréal montréal canada

CANADA

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Alan Beggs

Sir Edwin & Lady Manton Professor

Harvard Medical School

UNITED STATES

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Paul Kruszka

Research Interests

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Articles (10)

A Genotype/Phenotype Study of <i>KDM5B</i>-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants

Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1

Hajdu‐Cheney syndrome with atypical cardiovascular abnormalities

Phenotypic continuum between POLE‐related recessive disorders: A case report and literature review

Identifying environmental risk factors and gene-environment interactions in holoprosencephaly.

Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study

Reply: Another case of holoprosencephaly associated with RAD21 loss-of-function variant

Noonan syndrome on the African Continent

Comorbidity of congenital heart defects and holoprosencephaly is likely genetically driven and gene‐specific

Genetic screening for hypertrophic cardiomyopathy in large, asymptomatic military cohorts

Collaborators (5)

Teodoro Jerves

Heiko M. Reutter

Robert Lipinski

Philippe Campeau

Alan Beggs

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