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Pierre Majdalani
Pierre Majdalani
MD-PhD, Soroka Medical Center
Verified email at post.bgu.ac.il - Homepage
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Cited by
Year
Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes
B Elsana, A Imtirat, R Yagev, L Gradstein, P Majdalani, O Iny, R Parvari, ...
American Journal of Medical Genetics Part A 188 (12), 3463-3468, 2022
52022
Novel susceptibility genes drive familial non-medullary thyroid cancer in a large consanguineous kindred
P Majdalani, U Yoel, T Nasasra, M Fraenkel, A Haim, N Loewenthal, ...
International Journal of Molecular Sciences 24 (9), 8233, 2023
22023
A Missense Variation in PHACTR2 Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans
P Majdalani, A Levitas, H Krymko, L Slanovic, A Braiman, U Hadad, ...
International Journal of Molecular Sciences 24 (2), 1388, 2023
22023
A novel human mutation associates with increased pain threshold and impaired thermoregulation
P Majdalani, S Biton, V Pinsk, Z Shorer, A Broides, R Defrin, R Zarivach, ...
European Journal of Human Genetics 27, 892-893, 2019
2019
Search for the mutation causing the ThoracoAbdominal Syndrome (TAS) an x-linked dominant disorder
P Majdalani, R Parvari
EUROPEAN JOURNAL OF HUMAN GENETICS 26, 505-505, 2018
2018
Exome sequencing analysis in three Bedouin families with Keratoconus
W Goar, P Majdalani, CC Searby, SS Whitmore, AP DeLuca, A Imtirat, ...
Investigative Ophthalmology & Visual Science 58 (8), 3556-3556, 2017
2017
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