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SciProfiles: 2575218

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Works (3)

Novel Susceptibility Genes Drive Familial Non-Medullary Thyroid Cancer in a Large Consanguineous Kindred

International Journal of Molecular Sciences
2023-05-04 | Journal article
DOI: 10.3390/ijms24098233
Contributors: Pierre Majdalani; Uri Yoel; Tayseer Nasasra; Merav Fraenkel; Alon Haim; Neta Loewenthal; Raz Zarivach; Eli Hershkovitz; Ruti Parvari
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Crossref
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A Missense Variation in <i>PHACTR2</i> Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans

International Journal of Molecular Sciences
2023-01 | Journal article | Author
DOI: 10.3390/ijms24021388
Contributors: Pierre Majdalani; Aviva Levitas; Hanna Krymko; Leonel Slanovic; Alex Braiman; Uzi Hadad; Salam Dabsan; Amir Horev; RAZ ZARIVACH; Ruti Parvari
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Multidisciplinary Digital Publishing Institute
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Ocular manifestations among patients with congenital insensitivity to pain due to variants in <scp> <i>PRDM12</i> </scp> and <scp> <i>SCN9A</i> </scp> genes

American Journal of Medical Genetics Part A
2022-12 | Journal article
DOI: 10.1002/ajmg.a.62968
Part of ISSN: 1552-4825
Part of ISSN: 1552-4833
Contributors: BAKER; Ahed Imtirat; Ronit Yagev; Libe Gradstein; Pierre Majdalani; Oren Iny; Ruti Parvari; Erez Tsumi
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Pierre Majdalani
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