檢索結果 - Sofrin‐Drucker, Efrat

The Natural History of Metabolic Comorbidities in Turner Syndrome from Childhood to Early Adulthood: Comparison between 45,X Monosomy and Other Karyotypes 由 Lebenthal, Yael, Levy, Sigal, Sofrin-Drucker, Efrat, Nagelberg, Nessia, Weintrob, Naomi, Shalitin, Shlomit, de Vries, Liat, Tenenbaum, Ariel, Phillip, Moshe, Lazar, Liora

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Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1 由 Castle, Alison M.R., Salian, Smrithi, Bassan, Haim, Sofrin-Drucker, Efrat, Cusmai, Raffaella, Herman, Kristin C., Heron, Delphine, Keren, Boris, Johnstone, Devon L., Mears, Wendy, Morlot, Susanne, Nguyen, Thi Tuyet Mai, Rock, Rachel, Stolerman, Elliot, Russo, Julia, Burns, William Boyce, Jones, Julie R., Serpieri, Valentina, Wallaschek, Hannah, Zanni, Ginevra, Dyment, David A., Campeau, Philippe M.

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Biallelic loss of EMC10 leads to mild to severe intellectual disability 由 Kaiyrzhanov, Rauan, Rocca, Clarissa, Suri, Mohnish, Gulieva, Sughra, Zaki, Maha S., Henig, Noa Z., Siquier, Karine, Guliyeva, Ulviyya, Mounir, Samir M., Marom, Daphna, Allahverdiyeva, Aynur, Megahed, Hisham, van Bokhoven, Hans, Cantagrel, Vincent, Rad, Aboulfazl, Pourkeramti, Alemeh, Dehghani, Boshra, Shao, Diane D., Markus‐Bustani, Keren, Sofrin‐Drucker, Efrat, Orenstein, Naama, Salayev, Kamran, Arrigoni, Filippo, Houlden, Henry, Maroofian, Reza

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