Genetic counselors’ perspectives on population‐based screening for BRCA‐related hereditary breast and ovarian cancer and Lynch syndrome von De Simone, Lenika M., Arjunan, Aishwarya, Vogel Postula, Kristen J., Maga, Tara, Bucheit, Leslie A.

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Cancer Susceptibility Genetic Testing in a High-Risk Cohort of Urban Ashkenazi Jewish Individuals von Nielsen, Sarah M., De Simone, Lenika M., Olopade, Olufunmilayo I.

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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay von Vissers, Lisenka E.L.M., Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L., Weijers, Dilys, Begtrup, Amber, McWalter, Kirsty, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E.V., Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Vernon, Hilary J., Brunet, Kendra, Ruivenkamp, Claudia, Kant, Sarina G., Kruszka, Paul, Larson, Austin, Afenjar, Alexandra, Billette de Villemeur, Thierry, Nugent, Kimberly, Raymond, F. Lucy, Venselaar, Hanka, Demurger, Florence, Soler-Alfonso, Claudia, Li, Dong, Bhoj, Elizabeth, Hayes, Ian, Hamilton, Nina Powell, Ahmad, Ayesha, Fisher, Rachel, van den Born, Myrthe, Willems, Marjolaine, Sorlin, Arthur, Delanne, Julian, Moutton, Sebastien, Christophe, Philippe, Mau-Them, Frederic Tran, Vitobello, Antonio, Goel, Himanshu, Massingham, Lauren, Phornphutkul, Chanika, Schwab, Jennifer, Keren, Boris, Charles, Perrine, Vreeburg, Maaike, De Simone, Lenika, Hoganson, George, Iascone, Maria, Milani, Donatella, Evenepoel, Lucie, Revencu, Nicole, Ward, D. Isum, Burns, Kaitlyn, Krantz, Ian, Raible, Sarah E., Murrell, Jill R., Wood, Kathleen, Cho, Megan T., van Bokhoven, Hans, Muenke, Maximilian, Kleefstra, Tjitske, Bodmer, Rolf, de Brouwer, Arjan P.M.

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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model von Deng, Ruizhi, Medico-Salsench, Eva, Nikoncuk, Anita, Ramakrishnan, Reshmi, Lanko, Kristina, Kühn, Nikolas A., van der Linde, Herma C., Lor-Zade, Sarah, Albuainain, Fatimah, Shi, Yuwei, Yousefi, Soheil, Capo, Ivan, van den Herik, Evita Medici, van Slegtenhorst, Marjon, van Minkelen, Rick, Geeven, Geert, Mulder, Monique T., Ruijter, George J. G., Lütjohann, Dieter, Jacobs, Edwin H., Houlden, Henry, Pagnamenta, Alistair T., Metcalfe, Kay, Jackson, Adam, Banka, Siddharth, De Simone, Lenika, Schwaede, Abigail, Kuntz, Nancy, Palculict, Timothy Blake, Abbas, Safdar, Umair, Muhammad, AlMuhaizea, Mohammed, Colak, Dilek, AlQudairy, Hanan, Alsagob, Maysoon, Pereira, Catarina, Trunzo, Roberta, Karageorgou, Vasiliki, Bertoli-Avella, Aida M., Bauer, Peter, Bouman, Arjan, Hoefsloot, Lies H., van Ham, Tjakko J., Issa, Mahmoud, Zaki, Maha S., Gleeson, Joseph G., Willemsen, Rob, Kaya, Namik, Arold, Stefan T., Maroofian, Reza, Sanderson, Leslie E., Barakat, Tahsin Stefan

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Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations von Nagy, Sara, Pagnamenta, Alistair T, Cali, Elisa, Braakman, Hilde M H, Wijntjes, Juerd, Kusters, Benno, Gotkine, Marc, Elpeleg, Orly, Meiner, Vardiella, Lenberg, Jerica, Wigby, Kristen, Friedman, Jennifer, Perry, Luke D, Rossor, Alexander M, Uhrova Meszarosova, Anna, Thomasova, Dana, Jacob, Saiju, O'Driscoll, Mary, De Simone, Lenika, Grange, Dorothy K, Sommerville, Richard, Firoozfar, Zahra, Alavi, Shahryar, Mazaheri, Mahta, Parmar, Jevin M, Lamont, Phillipa J, Pini, Veronica, Sarkozy, Anna, Muntoni, Francesco, Ravenscroft, Gianina, Jones, Eppie, O'Rourke, Declan, Nel, Melissa, Heckmann, Jeannine M, Kvalsund, Michelle, Kapapa, Musambo M, Wa Somwe, Somwe, Bearden, David R, Çakar, Arman, Childs, Anne-Marie, Horvath, Rita, Reilly, Mary M, Houlden, Henry, Maroofian, Reza

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Autosomal recessive VWA1 -related disorder: comprehensive analysis of phenotypic variability and genetic mutations von Nagy, Sara, Pagnamenta, Alistair T, Cali, Elisa, Braakman, Hilde M H, Wijntjes, Juerd, Kusters, Benno, Gotkine, Marc, Elpeleg, Orly, Meiner, Vardiella, Lenberg, Jerica, Wigby, Kristen, Friedman, Jennifer, Perry, Luke D, Rossor, Alexander M, Uhrova Meszarosova, Anna, Thomasova, Dana, Jacob, Saiju, O'Driscoll, Mary, De Simone, Lenika, Grange, Dorothy K, Sommerville, Richard, Firoozfar, Zahra, Alavi, Shahryar, Mazaheri, Mahta, Parmar, Jevin M, Lamont, Phillipa J, Pini, Veronica, Sarkozy, Anna, Muntoni, Francesco, Ravenscroft, Gianina, Jones, Eppie, O'Rourke, Declan, Nel, Melissa, Heckmann, Jeannine M, Kvalsund, Michelle, Kapapa, Musambo M, Wa Somwe, Somwe, Bearden, David R, Çakar, Arman, Childs, Anne-Marie, Horvath, Rita, Reilly, Mary M, Houlden, Henry, Maroofian, Reza

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Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations von Nagy, Sara, Pagnamenta, Alistair T, Cali, Elisa, Braakman, Hilde MH, Wijntjes, Juerd, Kusters, Benno, Gotkine, Marc, Elpeleg, Orly, Meiner, Vardiella, Lenberg, Jerica, Wigby, Kristen, Friedman, Jennifer, Perry, Luke D, Rossor, Alexander M, Uhrova Meszarosova, Anna, Thomasova, Dana, Jacob, Saiju, O'Driscoll, Mary, De Simone, Lenika, Grange, Dorothy K, Sommerville, Richard, Firoozfar, Zahra, Alavi, Shahryar, Mazaheri, Mahta, Parmar, Jevin M, Lamont, Phillipa J, Pini, Veronica, Sarkozy, Anna, Muntoni, Francesco, Ravenscroft, Gianina, Jones, Eppie, O'Rourke, Declan, Nel, Melissa, Heckmann, Jeannine M, Kvalsund, Michelle, Kapapa, Musambo M, Wa Somwe, Somwe, Bearden, David R, Çakar, Arman, Childs, Anne-Marie, Horvath, Rita, Reilly, Mary M, Houlden, Henry, Maroofian, Reza

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