Výsledky vyhledávání - Daana, Muhannad
- Zobrazuji výsledky 1 - 7 z 7
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1
Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay Autor Harel, Tamar, Levy-Lahad, Ephrat, Daana, Muhannad, Mechoulam, Hadas, Horowitz-Cederboim, Smadar, Gur, Michal, Meiner, Vardiella, Elpeleg, Orly
Vydáno 2019Text -
2
Varied utilisation of health provision by Arab and Jewish residents in Israel Autor Southern, Jo, Roizin, Hector, Daana, Muhannad, Rubin, Carmit, Hasleton, Samantha, Cohen, Adi, Goral, Aviva, Rahav, Galia, Raz, Meir, Regev-Yochay, Gili
Vydáno 2015Text -
3
Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation Autor Attali, Ruben, Aharoni, Sharon, Treves, Susan, Rokach, Ori, Becker Cohen, Michal, Fellig, Yakov, Straussberg, Rachel, Dor, Talya, Daana, Muhannad, Mitrani-Rosenbaum, Stella, Nevo, Yoram
Vydáno 2013Text -
4
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy Autor 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
Vydáno 2019Text -
5
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state Autor 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
Vydáno 2022Text -
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Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway Autor 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
Vydáno 2016Text -
7
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization Autor 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
Vydáno 2016Text