Αποτελέσματα αναζήτησης - Fraenkel, Nitay
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Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy από 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
Έκδοση 2019Κείμενο -
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A homozygous deleterious mutation in CDK10 is associated with agenesis of corpus callosum, retinopathy and deafness. από Guen, Vincent J., Edvardson, Simon, Fraenkel, Nitay D., Fattal-Valevski, Aviva, Jalas, Chaim, Anteby, Irene, Shaag, Avraham, Dor, Talia, Gillis, David, Kerem, Eitan, Lees, Jacqueline A., Colas, Pierre, Elpeleg, Orly
Έκδοση 2017Κείμενο -
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Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number από Thompson, Kyle, Majd, Homa, Dallabona, Christina, Reinson, Karit, King, Martin S., Alston, Charlotte L., He, Langping, Lodi, Tiziana, Jones, Simon A., Fattal-Valevski, Aviva, Fraenkel, Nitay D., Saada, Ann, Haham, Alon, Isohanni, Pirjo, Vara, Roshni, Barbosa, Inês A., Simpson, Michael A., Deshpande, Charu, Puusepp, Sanna, Bonnen, Penelope E., Rodenburg, Richard J., Suomalainen, Anu, Õunap, Katrin, Elpeleg, Orly, Ferrero, Ileana, McFarland, Robert, Kunji, Edmund R.S., Taylor, Robert W.
Έκδοση 2016Κείμενο -
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Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number από Thompson, Kyle, Majd, Homa, Dallabona, Cristina, Reinson, Karit, King, Martin S., Alston, Charlotte L., He, Langping, Lodi, Tiziana, Jones, Simon A., Fattal-Valevski, Aviva, Fraenkel, Nitay D., Saada, Ann, Haham, Alon, Isohanni, Pirjo, Vara, Roshni, Barbosa, Inês A., Simpson, Michael A., Deshpande, Charu, Puusepp, Sanna, Bonnen, Penelope E., Rodenburg, Richard J., Suomalainen, Anu, Õunap, Katrin, Elpeleg, Orly, Ferrero, Ileana, McFarland, Robert, Kunji, Edmund R.S., Taylor, Robert W.
Έκδοση 2016Κείμενο