Søgeresultater - Begtrup, Amber

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures af Bayat, Allan, Pendziwiat, Manuela, Obersztyn, Ewa, Goldenberg, Paula, Zacher, Pia, Döring, Jan Henje, Syrbe, Steffen, Begtrup, Amber, Borovikov, Artem, Sharkov, Artem, Karasińska, Aneta, Giżewska, Maria, Mitchell, Wendy, Morava, Eva, Møller, Rikke S., Rubboli, Guido

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Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder af Huppke, Peter, Weissbach, Susann, Church, Joseph A., Schnur, Rhonda, Krusen, Martina, Dreha-Kulaczewski, Steffi, Kühn-Velten, W. Nikolaus, Wolf, Annika, Huppke, Brenda, Millan, Francisca, Begtrup, Amber, Almusafri, Fatima, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Müller, Michael, Gärtner, Jutta

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Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood af Edvardson, Simon, Nicolae, Claudia M., Agrawal, Pankaj B., Mignot, Cyril, Payne, Katelyn, Prasad, Asuri Narayan, Prasad, Chitra, Sadler, Laurie, Nava, Caroline, Mullen, Thomas E., Begtrup, Amber, Baskin, Berivan, Powis, Zöe, Shaag, Avraham, Keren, Boris, Moldovan, George-Lucian, Elpeleg, Orly

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TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism af Suzuki, Yoshiro, Chitayat, David, Sawada, Hirotake, Deardorff, Matthew A., McLaughlin, Heather M., Begtrup, Amber, Millar, Kathryn, Harrington, Jennifer, Chong, Karen, Roifman, Maian, Grand, Katheryn, Tominaga, Makoto, Takada, Fumio, Shuster, Shirley, Obara, Megumi, Mutoh, Hiroshi, Kushima, Reiko, Nishimura, Gen

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Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects af Boyle, Lia, Wamelink, Mirjam M.C., Salomons, Gajja S., Roos, Birthe, Pop, Ana, Dauber, Andrew, Hwa, Vivian, Andrew, Melissa, Douglas, Jessica, Feingold, Murray, Kramer, Nancy, Saitta, Sulagna, Retterer, Kyle, Cho, Megan T., Begtrup, Amber, Monaghan, Kristin G., Wynn, Julia, Chung, Wendy K.

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REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis af Bayram, Yavuz, White, Janson J., Elcioglu, Nursel, Cho, Megan T., Zadeh, Neda, Gedikbasi, Asuman, Palanduz, Sukru, Ozturk, Sukru, Cefle, Kivanc, Kasapcopur, Ozgur, Coban Akdemir, Zeynep, Pehlivan, Davut, Begtrup, Amber, Carvalho, Claudia M.B., Paine, Ingrid Sophie, Mentes, Ali, Bektas-Kayhan, Kivanc, Karaca, Ender, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R.

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De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment af Okur, Volkan, Cho, Megan T., van Wijk, Richard, van Oirschot, Brigitte, Picker, Jonathan, Coury, Stephanie A., Grange, Dorothy, Manwaring, Linda, Krantz, Ian, Muraresku, Colleen Clark, Hulick, Peter J., May, Holley, Pierce, Eric, Place, Emily, Bujakowska, Kinga, Telegrafi, Aida, Douglas, Ganka, Monaghan, Kristin G., Begtrup, Amber, Wilson, Ashley, Retterer, Kyle, Anyane-Yeboa, Kwame, Chung, Wendy K.

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Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience af Valencia, C. Alexander, Husami, Ammar, Holle, Jennifer, Johnson, Judith A., Qian, Yaping, Mathur, Abhinav, Wei, Chao, Indugula, Subba Rao, Zou, Fanggeng, Meng, Haiying, Wang, Lijun, Li, Xia, Fisher, Rachel, Tan, Tony, Hogart Begtrup, Amber, Collins, Kathleen, Wusik, Katie A., Neilson, Derek, Burrow, Thomas, Schorry, Elizabeth, Hopkin, Robert, Keddache, Mehdi, Harley, John Barker, Kaufman, Kenneth M., Zhang, Kejian

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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy af Assoum, Mirna, Philippe, Christophe, Isidor, Bertrand, Perrin, Laurence, Makrythanasis, Periklis, Sondheimer, Neal, Paris, Caroline, Douglas, Jessica, Lesca, Gaetan, Antonarakis, Stylianos, Hamamy, Hanan, Jouan, Thibaud, Duffourd, Yannis, Auvin, Stéphane, Saunier, Aline, Begtrup, Amber, Nowak, Catherine, Chatron, Nicolas, Ville, Dorothée, Mireskandari, Kamiar, Milani, Paolo, Jonveaux, Philippe, Lemeur, Guylène, Milh, Mathieu, Amamoto, Masano, Kato, Mitsuhiro, Nakashima, Mitsuko, Miyake, Noriko, Matsumoto, Naomichi, Masri, Amira, Thauvin-Robinet, Christel, Rivière, Jean-Baptiste, Faivre, Laurence, Thevenon, Julien

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TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants af Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.

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De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders af Nabais Sá, Maria J., El Tekle, Geniver, de Brouwer, Arjan P.M., Sawyer, Sarah L., del Gaudio, Daniela, Parker, Michael J., Kanani, Farah, van den Boogaard, Marie-José H., van Gassen, Koen, Van Allen, Margot I., Wierenga, Klaas, Purcarin, Gabriela, Elias, Ellen Roy, Begtrup, Amber, Keller-Ramey, Jennifer, Bernasocchi, Tiziano, van de Wiel, Laurens, Gilissen, Christian, Venselaar, Hanka, Pfundt, Rolph, Vissers, Lisenka E.L.M., Theurillat, Jean-Philippe P., de Vries, Bert B.A.

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Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants af Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.

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De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects af Accogli, Andrea, Calabretta, Sara, St-Onge, Judith, Boudrahem-Addour, Nassima, Dionne-Laporte, Alexandre, Joset, Pascal, Azzarello-Burri, Silvia, Rauch, Anita, Krier, Joel, Fieg, Elizabeth, Pallais, Juan C., McConkie-Rosell, Allyn, McDonald, Marie, Freedman, Sharon F., Rivière, Jean-Baptiste, Lafond-Lapalme, Joël, Simpson, Brittany N., Hopkin, Robert J., Trimouille, Aurélien, Van-Gils, Julien, Begtrup, Amber, McWalter, Kirsty, Delphine, Heron, Keren, Boris, Genevieve, David, Argilli, Emanuela, Sherr, Elliott H., Severino, Mariasavina, Rouleau, Guy A., Yam, Patricia T., Charron, Frédéric, Srour, Myriam

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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification af Schottlaender, Lucia V., Abeti, Rosella, Jaunmuktane, Zane, Macmillan, Carol, Chelban, Viorica, O’Callaghan, Benjamin, McKinley, John, Maroofian, Reza, Efthymiou, Stephanie, Athanasiou-Fragkouli, Alkyoni, Forbes, Raeburn, Soutar, Marc P.M., Livingston, John H., Kalmar, Bernardett, Swayne, Orlando, Hotton, Gary, Pittman, Alan, Mendes de Oliveira, João Ricardo, de Grandis, Maria, Richard-Loendt, Angela, Launchbury, Francesca, Althonayan, Juri, McDonnell, Gavin, Carr, Aisling, Khan, Suliman, Beetz, Christian, Bisgin, Atil, Tug Bozdogan, Sevcan, Begtrup, Amber, Torti, Erin, Greensmith, Linda, Giunti, Paola, Morrison, Patrick J., Brandner, Sebastian, Aurrand-Lions, Michel, Houlden, Henry

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Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder af Medico Salsench, Eva, Maroofian, Reza, Deng, Ruizhi, Lanko, Kristina, Nikoncuk, Anita, Pérez, Belén, Sánchez-Lijarcio, Obdulia, Ibáñez-Mico, Salvador, Wojcik, Antonina, Vargas, Marcelo, Abbas Al-Sannaa, Nouriya, Girgis, Marian Y, Silveira, Tainá Regina Damaceno, Bauer, Peter, Schroeder, Audrey, Fong, Chin-To, Begtrup, Amber, Babaei, Meisam, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Doosti, Mohammad, Ahangari, Najmeh, Najarzadeh Torbati, Paria, Ghayoor Karimiani, Ehsan, Murphy, David, Cali, Elisa, Kaya, Ibrahim H, AlMuhaizea, Mohammad, Colak, Dilek, Cardona-Londoño, Kelly J, Arold, Stefan T, Houlden, Henry, Bertoli-Avella, Aida, Kaya, Namik, Barakat, Tahsin Stefan

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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome af Ghosh, Shereen G., Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W., Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A., Karageorgou, Vasiliki, Begtrup, Amber, Crunk, Amy, Juusola, Jane, Willaert, Rebecca, Flore, Leigh A., Kennelly, Kelly, Spencer, Christopher, Brown, Martha, Trapane, Pamela, Hurst, Anna C. E., Lane Rutledge, S., Goodloe, Dana H., McDonald, Marie T., Shashi, Vandana, Schoch, Kelly, Tomoum, Hoda, Zaitoun, Raghda, Hadipour, Zahra, Galehdari, Hamid, Pagnamenta, Alistair T., Mojarrad, Majid, Sedaghat, Alireza, Dias, Patrícia, Quintas, Sofia, Eslahi, Atiyeh, Shariati, Gholamreza, Bauer, Peter, Simons, Cas, Houlden, Henry, Issa, Mahmoud Y., Zaki, Maha S., Maroofian, Reza, Gleeson, Joseph G.

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Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder af Hengel, Holger, Hannan, Shabab B., Dyack, Sarah, MacKay, Sara B., Schatz, Ulrich, Fleger, Martin, Kurringer, Andreas, Balousha, Ghassan, Ghanim, Zaid, Alkuraya, Fowzan S., Alzaidan, Hamad, Alsaif, Hessa S., Mitani, Tadahiro, Bozdogan, Sevcan, Pehlivan, Davut, Lupski, James R., Gleeson, Joseph J., Dehghani, Mohammadreza, Mehrjardi, Mohammad Y.V., Sherr, Elliott H., Parks, Kendall C., Argilli, Emanuela, Begtrup, Amber, Galehdari, Hamid, Balousha, Osama, Shariati, Gholamreza, Mazaheri, Neda, Malamiri, Reza A., Pagnamenta, Alistair T., Kingston, Helen, Banka, Siddharth, Jackson, Adam, Osmond, Mathew, Rieß, Angelika, Haack, Tobias B., Nägele, Thomas, Schuster, Stefanie, Hauser, Stefan, Admard, Jakob, Casadei, Nicolas, Velic, Ana, Macek, Boris, Ossowski, Stephan, Houlden, Henry, Maroofian, Reza, Schöls, Ludger

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WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features af Skraban, Cara M., Wells, Constance F., Markose, Preetha, Cho, Megan T., Nesbitt, Addie I., Au, P.Y. Billie, Begtrup, Amber, Bernat, John A., Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P.M., Denenberg, Elizabeth H., Douglas, Ganka, Gibson, Kristin M., Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M., Owens, Martina M., Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L.S., Verbeek, Nienke E., Walsh, Laurence E., Warner, Taylor C., Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B., Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A.

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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome af Palmer, Elizabeth E., Hong, Seungbeom, Al Zahrani, Fatema, Hashem, Mais O., Aleisa, Fajr A., Ahmed, Heba M. Jalal, Kandula, Tejaswi, Macintosh, Rebecca, Minoche, Andre E., Puttick, Clare, Gayevskiy, Velimir, Drew, Alexander P., Cowley, Mark J., Dinger, Marcel, Rosenfeld, Jill A., Xiao, Rui, Cho, Megan T., Yakubu, Suliat F., Henderson, Lindsay B., Guillen Sacoto, Maria J., Begtrup, Amber, Hamad, Muddathir, Shinawi, Marwan, Andrews, Marisa V., Jones, Marilyn C., Lindstrom, Kristin, Bristol, Ruth E., Kayani, Saima, Snyder, Molly, Villanueva, María Mercedes, Schteinschnaider, Angeles, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Roscioli, Tony, Kirk, Edwin P., Bye, Ann, Merzaban, Jasmeen, Jaremko, Łukas, Jaremko, Mariusz, Sachdev, Rani K., Alkuraya, Fowzan S., Arold, Stefan T.

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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome af Palmer, Elizabeth E., Hong, Seungbeom, Al Zahrani, Fatema, Hashem, Mais O., Aleisa, Fajr A., Jalal Ahmed, Heba M., Kandula, Tejaswi, Macintosh, Rebecca, Minoche, Andre E., Puttick, Clare, Gayevskiy, Velimir, Drew, Alexander P., Cowley, Mark J., Dinger, Marcel, Rosenfeld, Jill A., Xiao, Rui, Cho, Megan T., Yakubu, Suliat F., Henderson, Lindsay B., Guillen Sacoto, Maria J., Begtrup, Amber, Hamad, Muddathir, Shinawi, Marwan, Andrews, Marisa V., Jones, Marilyn C., Lindstrom, Kristin, Bristol, Ruth E., Kayani, Saima, Snyder, Molly, Villanueva, Marıá Mercedes, Schteinschnaider, Angeles, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Roscioli, Tony, Kirk, Edwin P., Bye, Ann, Merzaban, Jasmeen, Jaremko, Łukasz, Jaremko, Mariusz, Sachdev, Rani K., Alkuraya, Fowzan S., Arold, Stefan T.

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