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Yoel Hirsch

3PUBLICATIONS
30CO-AUTHORS
NeurogeneticsRespiratory diseases
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Publications (3)

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|Oct 13, 2023
Intellectual disability syndrome associated with a homozygous founder variant in <i>SGSM3</i> in Ashkenazi Jews.

Rivka Birnbaum, Shlomit Ezer, Nava Shaul Lotan

|May 27, 2023
Biallelic Loss-of-Function Variants in <i>BICD1</i> Are Associated with Peripheral Neuropathy and Hearing Loss.

Yoel Hirsch, Wendy K Chung, Sergey Novoselov

|Sep 08, 2021
Biallelic variants of <i>ATP13A3</i> cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.

Rajiv D Machado, Carrie L Welch, Matthias Haimel

Pageof 1

Frequent Collaborators

2 joint publications

Wendy K Chung

1 joint publications

Rajiv D Machado

1 joint publications

Carrie L Welch

1 joint publications

Matthias Haimel

1 joint publications

Marta Bleda

1 joint publications

Elizabeth Colglazier

1 joint publications

Marusa Debeljak

1 joint publications

Josef Ekstein

1 joint publications

Jeffrey R Fineman

1 joint publications

William Christopher Golden

Frequent Collaborators

2 joint publications

Wendy K Chung

1 joint publications

Rajiv D Machado

1 joint publications

Carrie L Welch

1 joint publications

Matthias Haimel

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