Torthaí cuardaigh - Daana, Muhannad

Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay de réir Harel, Tamar, Levy-Lahad, Ephrat, Daana, Muhannad, Mechoulam, Hadas, Horowitz-Cederboim, Smadar, Gur, Michal, Meiner, Vardiella, Elpeleg, Orly

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Varied utilisation of health provision by Arab and Jewish residents in Israel de réir Southern, Jo, Roizin, Hector, Daana, Muhannad, Rubin, Carmit, Hasleton, Samantha, Cohen, Adi, Goral, Aviva, Rahav, Galia, Raz, Meir, Regev-Yochay, Gili

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Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation de réir Attali, Ruben, Aharoni, Sharon, Treves, Susan, Rokach, Ori, Becker Cohen, Michal, Fellig, Yakov, Straussberg, Rachel, Dor, Talya, Daana, Muhannad, Mitrani-Rosenbaum, Stella, Nevo, Yoram

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Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy de réir Sheffer, Ruth, Gur, Michal, Brooks, Rebecca, Salah, Somaya, Daana, Muhannad, Fraenkel, Nitay, Eisenstein, Eli, Rabie, Malcolm, Nevo, Yoram, Jalas, Chaim, Elpeleg, Orly, Edvardson, Shimon, Harel, Tamar

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Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state de réir Yigit, Gökhan, Sheffer, Ruth, Daana, Muhannad, Li, Yun, Kaygusuz, Emrah, Mor-Shakad, Hagar, Altmüller, Janine, Nürnberg, Peter, Douiev, Liza, Kaulfuss, Silke, Burfeind, Peter, Wollnik, Bernd, Brockmann, Knut

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Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway de réir Edvardson, Shimon, Tian, Guoling, Cullen, Hayley, Vanyai, Hannah, Ngo, Linh, Bhat, Saiuj, Aran, Adi, Daana, Muhannad, Da’amseh, Naderah, Abu-Libdeh, Bassam, Cowan, Nicholas J., Heng, Julian Ik-Tsen, Elpeleg, Orly

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Congenital myasthenic syndrome in Israel: Genetic and clinical characterization de réir Aharoni, Sharon, Sadeh, Menachem, Shapira, Yehuda, Edvardson, Simon, Daana, Muhannad, Dor-Wollman, Talia, Mimouni-Bloch, Aviva, Halevy, Ayelet, Cohen, Rony, Sagie, Liora, Argov, Zohar, Rabie, Malcolm, Spiegel, Ronen, Chervinsky, Ilana, Orenstein, Naama, Engel, Andrew G., Nevo, Yoram

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