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 | 5 | 2022 |
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 | 2 | 2023 |
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 | 2 | 2023 |
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 |