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Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias.

Autor: Shefer Averbuch, Noa^1,2, Steinberg‐Shemer, Orna^1,2, Dgany, Orly³, Krasnov, Tanya³, Noy‐Lotan, Sharon³, Yacobovich, Joanne^1,2, Kuperman, Amir A.^4,5, Kattamis, Antonis⁶, Ben Barak, Ayelet⁷, Roth‐Jelinek, Batia⁸, Chubar, Evgeni⁹, Shabad, Evelyn¹⁰, Dufort, Gustavo¹¹, Ellis, Martin^2,12, Wolach, Ofir^2,13, Pazgal, Idit^2,14, Abu Quider, Abed¹⁵, Miskin, Hagit^16,17, Tamary, Hannah^1,2 htamary@post.tau.ac.il

Publikováno v: European Journal of Haematology. Sep2018, Vol. 101 Issue 3, p297-304. 8p.

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Mediastinal Tumor in a Boy With GnRH-Independent Precocious Puberty and Fluctuating β-HCG Levels.

Autor: Shilo S; The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, Petah Tikva 4920235, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv-Yafo 6997801, Israel., Amar S; Department of Hematology-Oncology, Schneider Children's Medical Center of Israel, Petah Tikva 4920235, Israel., Shefer Averbuch N; The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, Petah Tikva 4920235, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv-Yafo 6997801, Israel.; The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva 4941492, Israel., Rosenbaum E; Leumit Health Services, Beit Shemesh 9909003, Israel., Phillip M; The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, Petah Tikva 4920235, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv-Yafo 6997801, Israel., Lazar L; The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, Petah Tikva 4920235, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv-Yafo 6997801, Israel.

Publikováno v: JCEM case reports [JCEM Case Rep] 2024 Sep 27; Vol. 2 (10), pp. luae169. Date of Electronic Publication: 2024 Sep 27 (Print Publication: 2024).