DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition von Orenstein, Naama, Gofin, Yoel, Shomron, Noam, Ruhrman‐Shahar, Noa, Magal, Nurit, Hagari, Ofir, Azulay, Noy, Bazak, Lily, Goldberg, Yael, Basel‐Salmon, Lina

Volltext

The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study von Sukenik‐Halevy, Rivka, Perlman, Sharon, Ruhrman‐Shahar, Noa, Engel, Offra, Orenstein, Naama, Gonzaga‐Jauregui, Claudia, Shuldiner, Alan R., Magal, Nurit, Hagari, Ofir, Azulay, Noy, Lidzbarsky, Gabriel Arie, Bazak, Lily, Basel‐Salmon, Lina

Volltext

When phenotype does not match genotype: importance of “real-time” refining of phenotypic information for exome data interpretation von Basel-Salmon, Lina, Ruhrman-Shahar, Noa, Orenstein, Naama, Goldberg, Yael, Gonzaga-Jauregui, Claudia, Shuldiner, Alan R., Sukenik-Halevy, Rivka, Maya, Idit, Magal, Nurit, Hagari, Ofir, Azulay, Noy, Lidzbarsky, Gabriel Arie, Bazak, Lily

Volltext

The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal setting von Sukenik‐Halevy, Rivka, Ruhrman‐Shahar, Noa, Orenstein, Naama, Gonzaga‐Jauregui, Claudia, Shuldiner, Alan R., Magal, Nurit, Hagari, Ofir, Azulay, Noy, Lidzbarsky, Gabriel A., Bazak, Lily, Basel‐Salmon, Lina

Volltext

The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort von Abu Shtaya, Aasem, Kedar, Inbal, Mattar, Samar, Mahamid, Ahmad, Basel-Salmon, Lina, Farage Barhom, Sarit, Naftaly Nathan, Sofia, Magal, Nurit, Azulay, Noy, Levy Zalcberg, Michal, Chen-Shtoyerman, Rakefet, Segol, Ori, Seri, Mor, Reznick Levi, Gili, Shkedi-Rafid, Shiri, Vinkler, Chana, Netzer, Iris, Hagari Bechar, Ofir, Chamma, Liat, Liberman, Sari, Goldberg, Yael

Volltext

P079: A recurrent POT1 germline variant associated with early onset malignant melanoma, desmoid tumor and other malignancies von Shtaya, Aasem Abu, Kedar, Inbal, Bazak, Lily, Basel-Salmon, Lina, Naftali, Michal, Eskin-Schwartz, Marina, Birk, Ohad, Polager-Modan, Shirley, Keidar, Nitzan, Levi, Gili Reznick, Levi, Zohar, Segol, Ori, Azulay, Noy, Goldberg, Yael

Volltext

Electrical and Optical Properties of γ‑SnSe: A New Ultra-narrow Band Gap Material von Zakay, Noy, Schlesinger, Adi, Argaman, Uri, Nguyen, Long, Maman, Nitzan, Koren, Bar, Ozeri, Meital, Makov, Guy, Golan, Yuval, Azulay, Doron

Volltext

Phase control in solution deposited tin monosulfide thin films: the role of Pb2+ cations von Noy Zakay, Mishra, Neeraj, Maman, Nitzan, Rashkovskiy, Alexander, Schlesinger, Adi, Abutbul, Ran E, Ezersky, Vladimir, Azulay, Doron, Makov, Guy, Golan, Yuval

Volltext

Phase control in solution deposited tin monosulfide thin films: the role of Pb cations von Zakay, Noy, Mishra, Neeraj, Maman, Nitzan, Rashkovskiy, Alexander, Schlesinger, Adi, Abutbul, Ran E, Ezersky, Vladimir, Azulay, Doron, Makov, Guy, Golan, Yuval

Volltext

Phase control in solution deposited tin monosulfide thin films: the role of Pb 2+ cations von Zakay, Noy, Mishra, Neeraj, Maman, Nitzan, Rashkovskiy, Alexander, Schlesinger, Adi, Abutbul, Ran E., Ezersky, Vladimir, Azulay, Doron, Makov, Guy, Golan, Yuval

Volltext