Uterine cancer in Jewish Israeli BRCA1/2 mutation carriers von Laitman, Yael, Michaelson‐Cohen, Rachel, Levi, Einat, Chen‐Shtoyerman, Rakefet, Reish, Orit, Josefsberg Ben‐Yehoshua, Sagi, Bernstein‐Molho, Rinat, Keinan‐Boker, Lital, Rosengarten, Ora, Silverman, Barbara G., Perri, Tamar, Korach, Jacob, Mor, Pnina, Ephrat Ben‐Baruch, Noa, Levy Lahad, Ephrat, Friedman, Eitan

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Fetal exome sequencing: yield and limitations in a tertiary referral center von Daum, H., Meiner, V., Elpeleg, O., Harel, T., Bar‐Or, Libat, Eilat, Avital, Fahham, Duha, Gur, Michal, Hacohen, Nuphar, Kimchi, Adva, Macarov, Michal, Porat, Shay, Rosenak, Daniel, Shaag, Avraham, Shkedi‐Rafid, Shiri, Szmulewicz, Adi, Yagel, Simcha, Yanai, Nili, Zvi, Naama, Banne, Ehud, Ben‐Yehoshua, Sagi Josefsberg, Ephron, Noa, Lev, Dorit, Drugan, Arie, Irge, Dana, Mordechai, Shikma, Yehuda, Adi Ben, Freireich, Orit, Segel, Reeval

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Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia von Daas, Suha, Abu Salah, Nasser, Anikster, Yair, Barel, Ortal, Damseh, Nadirah S., Dumin, Elena, Fattal‐Valevski, Aviva, Falik‐Zaccai, Tzipora C., Habib, Clair, Josefsberg, Sagi, Korman, Stanley H., Kneller, Katya, Landau, Yuval, Lerman‐Sagie, Tally, Mandel, Hanna, Manor, Yehoshua, Moady Abdalla, Tameemi, Rock, Rachel, Rostami, Nira, Saada, Ann, Saraf‐Levy, Talya, Shaul Lotan, Nava, Spiegel, Ronen, Staretz‐Chacham, Orna, Tal, Galit, Ulanovsky, Igor, Vaisid, Taly, Wilnai, Yael, Almashanu, Shlomo

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The role of orotic acid measurement in routine newborn screening for urea cycle disorders von Staretz‐Chacham, Orna, Daas, Suha, Ulanovsky, Igor, Blau, Ayala, Rostami, Nira, Saraf‐Levy, Talya, Abu Salah, Nasser, Anikster, Yair, Banne, Ehud, Dar, Dalit, Dumin, Elena, Fattal‐Valevski, Aviva, Falik‐Zaccai, Tzipora, Hershkovitz, Eli, Josefsberg, Sagi, Khammash, Hatem, Keidar, Rimona, Korman, Stanley H., Landau, Yuval, Lerman‐Sagie, Tally, Mandel, Dror, Mandel, Hanna, Marom, Ronella, Morag, Iris, Nadir, Erez, Yosha‐Orpaz, Naama, Pode‐Shakked, Ben, Pras, Elon, Reznik‐Wolf, Haike, Saada, Ann, Segel, Reeval, Shaag, Avraham, Shaul Lotan, Nava, Spiegel, Ronen, Tal, Galit, Vaisid, Taly, Zeharia, Avi, Almashanu, Shlomo

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Hereditary orotic aciduria identified by newborn screening von Staretz-Chacham, Orna, Damseh, Nadirah S, Daas, Suha, Abu Salah, Nasser, Anikster, Yair, Barel, Ortal, Dumin, Elena, Fattal-Valevski, Aviva, Falik-Zaccai, Tzipora C, Hershkovitz, Eli, Josefsberg, Sagi, Landau, Yuval, Lerman-Sagie, Tally, Mandel, Hanna, Rock, Rachel, Rostami, Nira, Saraf-Levy, Talya, Shaul Lotan, Nava, Spiegel, Ronen, Tal, Galit, Ulanovsky, Igor, Wilnai, Yael, Korman, Stanley H, Almashanu, Shlomo

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The rare 13q33–q34 microdeletions: eight new patients and review of the literature von Sagi-Dain, Lena, Goldberg, Yael, Peleg, Amir, Sukenik-Halevy, Rivka, Sofrin-Drucker, Efrat, Appelman, Zvi, Josefsberg, Ben Yehoshua Sagi, Ben-Shachar, Shay, Vinkler, Chana, Basel-Salmon, Lina, Maya, Idit

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MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome von Zung, Amnon, Petek, Erwin, Ben‐Zeev, Bruria, Schwarzbraun, Thomas, Ben‐Yehoshua, Sagi Josefsberg

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The phenotype of 15 cases with rare 8q24.13‐q24.3 deletions–A new syndrome or still an enigma? von Maya, Idit, Kahana, Sarit, Agmon‐Fishman, Ifaat, Klein, Cochava, Matar, Reut, Berger, Racheli, Josefsberg, Sagi Ben Yehoshua, Shohat, Mordechai, Marom, Daphna, Basel‐Salmon, Lina, Sagi‐Dain, Lena

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Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study von Bancroft, Elizabeth K, Page, Elizabeth C, Castro, Elena, Lilja, Hans, Vickers, Andrew, Sjoberg, Daniel, Assel, Melissa, Foster, Christopher S, Drew, Kate, Mæhle, Lovise, Axcrona, Karol, Evans, D. Gareth, Bulman, Barbara, Eccles, Diana, van Asperen, Christi, Vasen, Hans, Kiemeney, Lambertus A, Ringelberg, Janneke, Cybulski, Cezary, Wokolorczyk, Dominika, Selkirk, Christina, Hulick, Peter J, Bojesen, Anders, Skytte, Anne-Bine, Lam, Jimmy, Taylor, Louise, Oldenburg, Rogier, Verhaegh, Gerald, van Zelst-Stams, Wendy A, Oosterwijk, Jan C, Blanco, Ignacio, Salinas, Monica, Cook, Jackie, Rosario, Derek J, Buys, Saundra, Conner, Tom, Ausems, Margreet G, Ong, Kai-ren, Hoffman, Jonathan, Domchek, Susan, Teixeira, Manuel R, Maia, Sofia, Foulkes, William D, Taherian, Nassim, Ruijs, Marielle, den Enden, Apollonia T. Helderman-van, Izatt, Louise, Davidson, Rosemarie, Adank, Muriel A, Walker, Lisa, Schmutzler, Rita, Tucker, Kathy, Kirk, Judy, Hodgson, Shirley, Harris, Marion, Douglas, Fiona, Lindeman, Geoffrey J, Zgajnar, Janez, Tischkowitz, Marc, Susman, Rachel, Ramón y Cajal, Teresa, Patcher, Nicholas, Spigelman, Allan, Liljegren, Annelie, Side, Lucy, Brewer, Carole, Donaldson, Alan, Stefansdottir, Vigdis, Chen-Shtoyerman, Rakefet, Amor, David J, Barwell, Julian, Giri, Veda N, Murthy, Vedang, Nicolai, Nicola, Teo, Soo-Hwang, Greenhalgh, Lynn, Strom, Sara, Henderson, Alex, McGrath, John, Gallagher, David, Aaronson, Neil, Ardern-Jones, Audrey, Bangma, Chris, Dearnaley, David, Eyfjord, Jorunn, Rothwell, Jeanette, Falconer, Alison, Gronberg, Henrik, Johannsson, Oskar, Kote-Jarai, Zsofia, Axcrona, Ulrika, Melia, Jane, McKinley, Joanne, Mitra, Anita V, Moynihan, Clare, Rennert, Gad, Suri, Mohnish, Wilson, Penny, Killick, Emma, Moss, Sue

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Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns von Rock, Rachel, Rock, Oded, Daas, Suha, Biton-Regev, Vered, Sagiv, Nadav, Salah, Nasser Abu, Anikster, Yair, Barel, Ortal, Cohen, Ronen Hady, Dumin, Elena, Fattal-Valevski, Aviva, Falik-Zaccai, Tzipora, Herskovitz, Eli, Josefsberg, Sagi, Khammash, Hatem, Kneller, Katya, Korman, Stanley H, Landau, Yuval E, Lerman-Sagie, Tally, Mandel, Hanna, Pras, Elon, Reznik-Wolf, Haike, Shaag, Avraham, Lotan, Nava Shaul, Spiegel, Ronen, Tal, Galit, Staretz-Chacham, Orna, Wilnai, Yael, Almashanu, Shlomo

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Risk of Clinically Significant Chromosomal Microarray Analysis Findings in Fetuses With Nuchal Translucency From 3.0 mm Through 3.4 mm von Sagi-Dain, Lena, Singer, Amihood, Ben Shachar, Shay, Josefsberg Ben Yehoshua, Sagi, Feingold-Zadok, Michal, Greenbaum, Lior, Maya, Idit

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A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study von Page, Elizabeth C, Brook, Mark N, McHugh, Jana, Jones, Ann-Britt, Merson, Susan, Ong, Kai Ren, Hoffman, Jonathan, Huber, Camilla, Grindedal, Eli Marie, Stormorken, Astrid, Hanson, Helen, James, Paul, Syngal, Sapna, Barwell, Julian, Teixeira, Manuel R, Macrae, Finlay A, Pachter, Nicholas, Buys, Saundra, Cooney, Kathleen A, Taylor, Amy, Hogben, Matthew, Castro, Elena, Dearnaley, David, Dias, Alexander, Dudderidge, Tim, Hamdy, Freddie C, Mikropoulos, Christos, Mitra, Anita V, Moynihan, Clare, Rennert, Gad, Collier, Rebecca, Adlard, Julian, Alfonso, Rosa, Ball, Darran, Benton, Barbara, Biller, Leah, Burgess, Lucy, Callard, Alice, Carter, Vanda, Catanzaro, Mario, Compton, Cecilia, Cornford, Philip, Costello, Philandra, Coulier, Laura, Douglas, Fiona, Douglas, Emma, Ellery, Natalie, Frydenberg, Mark, Fuller, Debbie, Gabriel, Camila, Genova, Elena, George, Angela, Georgiou, Demetra, Goff, Sally, Goldgar, David, Goodman, Selina, Gray, Catherine, Griffiths, Julie, Gupwell, Karin, Hart, Rachel, Hawkes, Lara, Hilario, Kathrine, Hulick, Peter, Jenkins, Sharon, Josefsberg Ben-Yehoshua, Sagi, Kinsella, Netty, Kumar, Pardeep, Leibovici, Dan, Martin, Phoebe, Murphy, Morgan, Mzazi, Shumi, Nadolski, Maria, Park, Linda, Patel, Nafisa, Paulo Souto, João, Peixoto, Ana, Petelin, Lara, Poile, Charlotte, Purnell, Helen, Rankin, Brigette, Renton, Caroline, Sajoo, Anaar, Saunders, Kathryn, Searle, Anne, Sehra, Ravinder, Shackleton, Kylie, Shaw, Adam, Shevrin, Daniel, Siguake, Kas, Snadden, Lesley, Sorrentino, Margherita, Thomas, Maggie, Townshend, Sharron, Tricker, Karen, Tripathi, Vishakha, Valdagni, Riccardo, Verdon, Lizzie, Vogel, Kristen, Watford, Amy, Offman, Judith

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Management of a patient with holocarboxylase synthetase deficiency von Van Hove, Johan L.K., Josefsberg, Sagi, Freehauf, Cynthia, Thomas, Janet A., Thuy, Le Phuc, Barshop, Bruce A., Woontner, Michael, Mock, Donald M., Chiang, Pei-Wen, Spector, Elaine, Meneses-Morales, Iván, Cervantes-Roldán, Rafael, León-Del-Río, Alfonso

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MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome von Zung, Amnon, Petek, Erwin, Ben-Zeev, Bruria, Schwarzbraun, Thomas, Ben-Yehoshua, Sagi Josefsberg

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Microarray analysis has no additional value in fetal aberrant right subclavian artery: description of 268 pregnancies and systematic literature review von Sagi‐Dain, L., Singer, A., Josefsberg, S., Peleg, A., Lev, D., Samra, N. Nasser, Bar‐Shira, A., Zeligson, S., Maya, I., Ben‐Shachar, S.

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