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Group by: Creators | Item Type | Uncontrolled Keywords | No Grouping
Number of items: 16.

autism

Harris, Holly K, Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S, Soucy, Aubrie, Genetti, Casie A, Suslovitch, Victoria, Rodan, Lance H, Tiller, George E, Lesca, Gaetan, Gripp, Karen W, Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Hamosh, Ada, Applegate, Carolyn D, Turnpenny, Peter D, Simon, Marleen E H, Volker-Touw, Catharina M L, Van Gassen, Koen L I, Binsbergen, Ellen van, Pfundt, Rolph, Gardeitchik, Thatjana, De Vries, Bert B A, Immken, LaDonna L, Buchanan, Catherine, Willing, Marcia, Toler, Tomi L, Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus Jr, Julian L, Fannemel, Madeleine, Posey, Jennifer E, Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R, Larsen, Martin J, Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K, Walsh, Laurence E, Aldinger, Kimberly A, Balciuniene, Jorune, Skraban, Cara, Gray, Christopher, Murrell, Jill, Bupp, Caleb P, Pascolini, Giulia, Grammatico, Paola, Broly, Martin, Küry, Sébastien, Nizon, Mathilde, Rasool, Iqra Ghulam, Zahoor, Muhammad Yasir, Kraus, Cornelia, Reis, André, Iqbal, Muhammad, Uguen, Kevin, Audebert-Bellanger, Severine, Ferec, Claude, Redon, Sylvia, Baker, Janice, Wu, Yunhong, Zampino, Guiseppe, Syrbe, Steffan, Brosse, Ines, Abou Jamra, Rami, Dobyns, William B, Cohen, Lilian L, Blomhoff, Anne, Mignot, Cyril, Keren, Boris, Courtin, Thomas, Agrawal, Pankaj B, Beggs, Alan H and Yu, Timothy W (2021) Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genetics in Medicine, 23 (6). pp. 1028-1040. ISSN 1098-3600 (Print), 1530-0366 (Online) (doi:https://doi.org/10.1038/s41436-021-01114-z)

Avicenna

Asadollahi, Reza ORCID: 0000-0002-1497-0564 and Asadollahi, Hamid (2013) Avicenna’s view on medical genetics. Genetics in Medicine, 15 (5). pp. 410-411. ISSN 1098-3600 (Print), 1530-0366 (Online) (doi:https://doi.org/10.1038/gim.2013.27)

CYFIP2

Anaïs, Begemann, Heinrich, Sticht, Amber, Begtrup, Antonio, Vitobello, Laurence, Faivre, Siddharth, Banka, Bader, Alhaddad, Reza, Asadollahi, Jessica, Becker, Tatjana, Bierhals, Kathleen E, Brown, Ange-Line, Bruel, Theresa, Brunet, Maryline, Carneiro, Kirsten, Cremer, Robert, Day, Anne-Sophie, Denommé-Pichon, Dave A, Dyment, Hartmut, Engels, Rachel, Fisher, Elaine S, Goh, M J, Hajianpour, Lucia Ribeiro Machado, Haertel, Nadine, Hauer, Maja, Hempel, Theresia, Herget, Jessika, Johannsen, Cornelia, Kraus, Gwenaël, Le Guyader, Gaetan, Lesca, Frédéric Tran, Mau-Them, John Henry, McDermott, Kirsty, McWalter, Pierre, Meyer, Katrin, Õunap, Bernt, Popp, Tiia, Reimand, Korbinian M, Riedhammer, Martina, Russo, Lynette G, Sadleir, Margarita, Saenz, Manuel, Schiff, Elisabeth, Schuler, Steffen, Syrbe, Amelie Theresa, Van der Ven, Alain, Verloes, Marjolaine, Willems, Christiane, Zweier, Katharina, Steindl, Markus, Zweier and Anita, Rauch (2020) New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genetics in Medicine. ISSN 1098-3600 (doi:https://doi.org/10.1038/s41436-020-01011-x)

epilepsy

Anaïs, Begemann, Heinrich, Sticht, Amber, Begtrup, Antonio, Vitobello, Laurence, Faivre, Siddharth, Banka, Bader, Alhaddad, Reza, Asadollahi, Jessica, Becker, Tatjana, Bierhals, Kathleen E, Brown, Ange-Line, Bruel, Theresa, Brunet, Maryline, Carneiro, Kirsten, Cremer, Robert, Day, Anne-Sophie, Denommé-Pichon, Dave A, Dyment, Hartmut, Engels, Rachel, Fisher, Elaine S, Goh, M J, Hajianpour, Lucia Ribeiro Machado, Haertel, Nadine, Hauer, Maja, Hempel, Theresia, Herget, Jessika, Johannsen, Cornelia, Kraus, Gwenaël, Le Guyader, Gaetan, Lesca, Frédéric Tran, Mau-Them, John Henry, McDermott, Kirsty, McWalter, Pierre, Meyer, Katrin, Õunap, Bernt, Popp, Tiia, Reimand, Korbinian M, Riedhammer, Martina, Russo, Lynette G, Sadleir, Margarita, Saenz, Manuel, Schiff, Elisabeth, Schuler, Steffen, Syrbe, Amelie Theresa, Van der Ven, Alain, Verloes, Marjolaine, Willems, Christiane, Zweier, Katharina, Steindl, Markus, Zweier and Anita, Rauch (2020) New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genetics in Medicine. ISSN 1098-3600 (doi:https://doi.org/10.1038/s41436-020-01011-x)

genetic counseling

Boonsawat, Paranchai, Joset, Pascal, Steindl, Katharina, Oneda, Beatrice, Gogoll, Laura, Azzarello-Burri, Silvia, Sheth, Frenny, Datar, Chaitanya, Verma, Ishwar C., Puri, Ratna Dua, Zollino, Marcella, Bachmann-Gagescu, Ruxandra, Niedrist, Dunja, Papik, Michael, Figueiro-Silva, Joana, Masood, Rahim, Zweier, Markus, Kraemer, Dennis, Lincoln, Sharyn, Rodan, Lance, Passemard, Sandrine, Drunat, Séverine, Verloes, Alain, Horn, Anselm H.C., Sticht, Heinrich, Steinfeld, Robert, Plecko, Barbara, Latal, Beatrice, Jenni, Oskar, Asadollahi, Reza ORCID: 0000-0002-1497-0564 and Rauch, Anita (2019) Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine, 21 (9). pp. 2043-2058. ISSN 1098-3600 (Print), 1530-0366 (Online) (doi:https://doi.org/10.1038/s41436-019-0464-7)

history

Asadollahi, Reza ORCID: 0000-0002-1497-0564 and Asadollahi, Hamid (2013) Avicenna’s view on medical genetics. Genetics in Medicine, 15 (5). pp. 410-411. ISSN 1098-3600 (Print), 1530-0366 (Online) (doi:https://doi.org/10.1038/gim.2013.27)

intellectual disability

Anaïs, Begemann, Heinrich, Sticht, Amber, Begtrup, Antonio, Vitobello, Laurence, Faivre, Siddharth, Banka, Bader, Alhaddad, Reza, Asadollahi, Jessica, Becker, Tatjana, Bierhals, Kathleen E, Brown, Ange-Line, Bruel, Theresa, Brunet, Maryline, Carneiro, Kirsten, Cremer, Robert, Day, Anne-Sophie, Denommé-Pichon, Dave A, Dyment, Hartmut, Engels, Rachel, Fisher, Elaine S, Goh, M J, Hajianpour, Lucia Ribeiro Machado, Haertel, Nadine, Hauer, Maja, Hempel, Theresia, Herget, Jessika, Johannsen, Cornelia, Kraus, Gwenaël, Le Guyader, Gaetan, Lesca, Frédéric Tran, Mau-Them, John Henry, McDermott, Kirsty, McWalter, Pierre, Meyer, Katrin, Õunap, Bernt, Popp, Tiia, Reimand, Korbinian M, Riedhammer, Martina, Russo, Lynette G, Sadleir, Margarita, Saenz, Manuel, Schiff, Elisabeth, Schuler, Steffen, Syrbe, Amelie Theresa, Van der Ven, Alain, Verloes, Marjolaine, Willems, Christiane, Zweier, Katharina, Steindl, Markus, Zweier and Anita, Rauch (2020) New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genetics in Medicine. ISSN 1098-3600 (doi:https://doi.org/10.1038/s41436-020-01011-x)

Harris, Holly K, Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S, Soucy, Aubrie, Genetti, Casie A, Suslovitch, Victoria, Rodan, Lance H, Tiller, George E, Lesca, Gaetan, Gripp, Karen W, Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Hamosh, Ada, Applegate, Carolyn D, Turnpenny, Peter D, Simon, Marleen E H, Volker-Touw, Catharina M L, Van Gassen, Koen L I, Binsbergen, Ellen van, Pfundt, Rolph, Gardeitchik, Thatjana, De Vries, Bert B A, Immken, LaDonna L, Buchanan, Catherine, Willing, Marcia, Toler, Tomi L, Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus Jr, Julian L, Fannemel, Madeleine, Posey, Jennifer E, Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R, Larsen, Martin J, Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K, Walsh, Laurence E, Aldinger, Kimberly A, Balciuniene, Jorune, Skraban, Cara, Gray, Christopher, Murrell, Jill, Bupp, Caleb P, Pascolini, Giulia, Grammatico, Paola, Broly, Martin, Küry, Sébastien, Nizon, Mathilde, Rasool, Iqra Ghulam, Zahoor, Muhammad Yasir, Kraus, Cornelia, Reis, André, Iqbal, Muhammad, Uguen, Kevin, Audebert-Bellanger, Severine, Ferec, Claude, Redon, Sylvia, Baker, Janice, Wu, Yunhong, Zampino, Guiseppe, Syrbe, Steffan, Brosse, Ines, Abou Jamra, Rami, Dobyns, William B, Cohen, Lilian L, Blomhoff, Anne, Mignot, Cyril, Keren, Boris, Courtin, Thomas, Agrawal, Pankaj B, Beggs, Alan H and Yu, Timothy W (2021) Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genetics in Medicine, 23 (6). pp. 1028-1040. ISSN 1098-3600 (Print), 1530-0366 (Online) (doi:https://doi.org/10.1038/s41436-021-01114-z)

MCPH

Boonsawat, Paranchai, Joset, Pascal, Steindl, Katharina, Oneda, Beatrice, Gogoll, Laura, Azzarello-Burri, Silvia, Sheth, Frenny, Datar, Chaitanya, Verma, Ishwar C., Puri, Ratna Dua, Zollino, Marcella, Bachmann-Gagescu, Ruxandra, Niedrist, Dunja, Papik, Michael, Figueiro-Silva, Joana, Masood, Rahim, Zweier, Markus, Kraemer, Dennis, Lincoln, Sharyn, Rodan, Lance, Passemard, Sandrine, Drunat, Séverine, Verloes, Alain, Horn, Anselm H.C., Sticht, Heinrich, Steinfeld, Robert, Plecko, Barbara, Latal, Beatrice, Jenni, Oskar, Asadollahi, Reza ORCID: 0000-0002-1497-0564 and Rauch, Anita (2019) Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine, 21 (9). pp. 2043-2058. ISSN 1098-3600 (Print), 1530-0366 (Online) (doi:https://doi.org/10.1038/s41436-019-0464-7)

medical genetics

Asadollahi, Reza ORCID: 0000-0002-1497-0564 and Asadollahi, Hamid (2013) Avicenna’s view on medical genetics. Genetics in Medicine, 15 (5). pp. 410-411. ISSN 1098-3600 (Print), 1530-0366 (Online) (doi:https://doi.org/10.1038/gim.2013.27)

mitochondria

Boonsawat, Paranchai, Joset, Pascal, Steindl, Katharina, Oneda, Beatrice, Gogoll, Laura, Azzarello-Burri, Silvia, Sheth, Frenny, Datar, Chaitanya, Verma, Ishwar C., Puri, Ratna Dua, Zollino, Marcella, Bachmann-Gagescu, Ruxandra, Niedrist, Dunja, Papik, Michael, Figueiro-Silva, Joana, Masood, Rahim, Zweier, Markus, Kraemer, Dennis, Lincoln, Sharyn, Rodan, Lance, Passemard, Sandrine, Drunat, Séverine, Verloes, Alain, Horn, Anselm H.C., Sticht, Heinrich, Steinfeld, Robert, Plecko, Barbara, Latal, Beatrice, Jenni, Oskar, Asadollahi, Reza ORCID: 0000-0002-1497-0564 and Rauch, Anita (2019) Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine, 21 (9). pp. 2043-2058. ISSN 1098-3600 (Print), 1530-0366 (Online) (doi:https://doi.org/10.1038/s41436-019-0464-7)

primary microcephaly

Boonsawat, Paranchai, Joset, Pascal, Steindl, Katharina, Oneda, Beatrice, Gogoll, Laura, Azzarello-Burri, Silvia, Sheth, Frenny, Datar, Chaitanya, Verma, Ishwar C., Puri, Ratna Dua, Zollino, Marcella, Bachmann-Gagescu, Ruxandra, Niedrist, Dunja, Papik, Michael, Figueiro-Silva, Joana, Masood, Rahim, Zweier, Markus, Kraemer, Dennis, Lincoln, Sharyn, Rodan, Lance, Passemard, Sandrine, Drunat, Séverine, Verloes, Alain, Horn, Anselm H.C., Sticht, Heinrich, Steinfeld, Robert, Plecko, Barbara, Latal, Beatrice, Jenni, Oskar, Asadollahi, Reza ORCID: 0000-0002-1497-0564 and Rauch, Anita (2019) Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine, 21 (9). pp. 2043-2058. ISSN 1098-3600 (Print), 1530-0366 (Online) (doi:https://doi.org/10.1038/s41436-019-0464-7)

RFX

Harris, Holly K, Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S, Soucy, Aubrie, Genetti, Casie A, Suslovitch, Victoria, Rodan, Lance H, Tiller, George E, Lesca, Gaetan, Gripp, Karen W, Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Hamosh, Ada, Applegate, Carolyn D, Turnpenny, Peter D, Simon, Marleen E H, Volker-Touw, Catharina M L, Van Gassen, Koen L I, Binsbergen, Ellen van, Pfundt, Rolph, Gardeitchik, Thatjana, De Vries, Bert B A, Immken, LaDonna L, Buchanan, Catherine, Willing, Marcia, Toler, Tomi L, Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus Jr, Julian L, Fannemel, Madeleine, Posey, Jennifer E, Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R, Larsen, Martin J, Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K, Walsh, Laurence E, Aldinger, Kimberly A, Balciuniene, Jorune, Skraban, Cara, Gray, Christopher, Murrell, Jill, Bupp, Caleb P, Pascolini, Giulia, Grammatico, Paola, Broly, Martin, Küry, Sébastien, Nizon, Mathilde, Rasool, Iqra Ghulam, Zahoor, Muhammad Yasir, Kraus, Cornelia, Reis, André, Iqbal, Muhammad, Uguen, Kevin, Audebert-Bellanger, Severine, Ferec, Claude, Redon, Sylvia, Baker, Janice, Wu, Yunhong, Zampino, Guiseppe, Syrbe, Steffan, Brosse, Ines, Abou Jamra, Rami, Dobyns, William B, Cohen, Lilian L, Blomhoff, Anne, Mignot, Cyril, Keren, Boris, Courtin, Thomas, Agrawal, Pankaj B, Beggs, Alan H and Yu, Timothy W (2021) Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genetics in Medicine, 23 (6). pp. 1028-1040. ISSN 1098-3600 (Print), 1530-0366 (Online) (doi:https://doi.org/10.1038/s41436-021-01114-z)

secondary microcephaly

Boonsawat, Paranchai, Joset, Pascal, Steindl, Katharina, Oneda, Beatrice, Gogoll, Laura, Azzarello-Burri, Silvia, Sheth, Frenny, Datar, Chaitanya, Verma, Ishwar C., Puri, Ratna Dua, Zollino, Marcella, Bachmann-Gagescu, Ruxandra, Niedrist, Dunja, Papik, Michael, Figueiro-Silva, Joana, Masood, Rahim, Zweier, Markus, Kraemer, Dennis, Lincoln, Sharyn, Rodan, Lance, Passemard, Sandrine, Drunat, Séverine, Verloes, Alain, Horn, Anselm H.C., Sticht, Heinrich, Steinfeld, Robert, Plecko, Barbara, Latal, Beatrice, Jenni, Oskar, Asadollahi, Reza ORCID: 0000-0002-1497-0564 and Rauch, Anita (2019) Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine, 21 (9). pp. 2043-2058. ISSN 1098-3600 (Print), 1530-0366 (Online) (doi:https://doi.org/10.1038/s41436-019-0464-7)

WASF

Anaïs, Begemann, Heinrich, Sticht, Amber, Begtrup, Antonio, Vitobello, Laurence, Faivre, Siddharth, Banka, Bader, Alhaddad, Reza, Asadollahi, Jessica, Becker, Tatjana, Bierhals, Kathleen E, Brown, Ange-Line, Bruel, Theresa, Brunet, Maryline, Carneiro, Kirsten, Cremer, Robert, Day, Anne-Sophie, Denommé-Pichon, Dave A, Dyment, Hartmut, Engels, Rachel, Fisher, Elaine S, Goh, M J, Hajianpour, Lucia Ribeiro Machado, Haertel, Nadine, Hauer, Maja, Hempel, Theresia, Herget, Jessika, Johannsen, Cornelia, Kraus, Gwenaël, Le Guyader, Gaetan, Lesca, Frédéric Tran, Mau-Them, John Henry, McDermott, Kirsty, McWalter, Pierre, Meyer, Katrin, Õunap, Bernt, Popp, Tiia, Reimand, Korbinian M, Riedhammer, Martina, Russo, Lynette G, Sadleir, Margarita, Saenz, Manuel, Schiff, Elisabeth, Schuler, Steffen, Syrbe, Amelie Theresa, Van der Ven, Alain, Verloes, Marjolaine, Willems, Christiane, Zweier, Katharina, Steindl, Markus, Zweier and Anita, Rauch (2020) New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genetics in Medicine. ISSN 1098-3600 (doi:https://doi.org/10.1038/s41436-020-01011-x)

WAVE-regulatory complex (WRC)

Anaïs, Begemann, Heinrich, Sticht, Amber, Begtrup, Antonio, Vitobello, Laurence, Faivre, Siddharth, Banka, Bader, Alhaddad, Reza, Asadollahi, Jessica, Becker, Tatjana, Bierhals, Kathleen E, Brown, Ange-Line, Bruel, Theresa, Brunet, Maryline, Carneiro, Kirsten, Cremer, Robert, Day, Anne-Sophie, Denommé-Pichon, Dave A, Dyment, Hartmut, Engels, Rachel, Fisher, Elaine S, Goh, M J, Hajianpour, Lucia Ribeiro Machado, Haertel, Nadine, Hauer, Maja, Hempel, Theresia, Herget, Jessika, Johannsen, Cornelia, Kraus, Gwenaël, Le Guyader, Gaetan, Lesca, Frédéric Tran, Mau-Them, John Henry, McDermott, Kirsty, McWalter, Pierre, Meyer, Katrin, Õunap, Bernt, Popp, Tiia, Reimand, Korbinian M, Riedhammer, Martina, Russo, Lynette G, Sadleir, Margarita, Saenz, Manuel, Schiff, Elisabeth, Schuler, Steffen, Syrbe, Amelie Theresa, Van der Ven, Alain, Verloes, Marjolaine, Willems, Christiane, Zweier, Katharina, Steindl, Markus, Zweier and Anita, Rauch (2020) New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genetics in Medicine. ISSN 1098-3600 (doi:https://doi.org/10.1038/s41436-020-01011-x)

This list was generated on Sat Mar 2 10:07:21 2024 UTC.