Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization von Wang, Haicui, Salter, Claire G, Refai, Osama, Hardy, Holly, Barwick, Katy E S, Akpulat, Ugur, Kvarnung, Malin, Chioza, Barry A, Harlalka, Gaurav, Taylan, Fulya, Sejersen, Thomas, Wright, Jane, Zimmerman, Holly H, Karakaya, Mert, Stüve, Burkhardt, Weis, Joachim, Schara, Ulrike, Russell, Mark A, Abdul-Rahman, Omar A, Chilton, John, Blakely, Randy D, Baple, Emma L, Cirak, Sebahattin, Crosby, Andrew H

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MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death von Eldomery, Mohammad K, Akdemir, Zeynep C, Vögtle, F-Nora, Charng, Wu-Lin, Mulica, Patrycja, Rosenfeld, Jill A, Gambin, Tomasz, Gu, Shen, Burrage, Lindsay C, Al Shamsi, Aisha, Penney, Samantha, Jhangiani, Shalini N, Zimmerman, Holly H, Muzny, Donna M, Wang, Xia, Tang, Jia, Medikonda, Ravi, Ramachandran, Prasanna V, Wong, Lee-Jun, Boerwinkle, Eric, Gibbs, Richard A, Eng, Christine M, Lalani, Seema R, Hertecant, Jozef, Rodenburg, Richard J, Abdul-Rahman, Omar A, Yang, Yaping, Xia, Fan, Wang, Meng C, Lupski, James R, Meisinger, Chris, Sutton, V Reid

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Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder von Abrams, Alexander J, Hufnagel, Robert B, Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A, Campeanu, Ion J, Griffin, Laurie B, Groenewald, Saskia, Strickland, Alleene V, Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M, Sund, Kristen L, Wang, Xinjian, Krueger, Laura A, Peng, Yanyan, Prada, Carlos E, Prows, Cynthia A, Schorry, Elizabeth K, Antonellis, Anthony, Zimmerman, Holly H, Abdul-Rahman, Omar A, Yang, Yaping, Downes, Susan M, Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Németh, Andrea H, Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E

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5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C von Carr, Christopher W., Zimmerman, Holly H., Martin, Christa Lese, Vikkula, Miikka, Byrd, Adam C., Abdul-Rahman, Omar A.

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Integrating nutrition and genetic counseling: A case study approach to interprofessional learning von Cratsenberg, Drew M., Jackson, Mariah K., Hanson, Corrine K., Zimmerman, Holly H.

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Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita von Frints, Suzanna G.M., Hennig, Friederike, Colombo, Roberto, Jacquemont, Sebastien, Terhal, Paulien, Zimmerman, Holly H., Hunt, David, Mendelsohn, Bryce A., Kordaß, Ulrike, Webster, Richard, Sinnema, Margje, Abdul‐Rahman, Omar, Suckow, Vanessa, Fernández‐Jaén, Alberto, Roozendaal, Kees, Stevens, Servi J.C., Macville, Merryn V.E., Al‐Nasiry, Salwan, Gassen, Koen, Utzig, Norbert, Koudijs, Suzanne M., McGregor, Lesley, Maas, Saskia M., Baralle, Diana, Dixit, Abhijit, Wieacker, Peter, Lee, Marcus, Lee, Arthur S., Engle, Elizabeth C., Houge, Gunnar, Gradek, Gyri A., Douglas, Andrew G.L., Longman, Cheryl, Joss, Shelagh, Velasco, Danita, Hennekam, Raoul C., Hirata, Hiromi, Kalscheuer, Vera M.

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Telehealth genetic services during the COVID‐19 Pandemic: Implementation and patient experiences across multiple specialties in Nebraska von Rezich, Brianna M.Z., Malone, Jaime A., Reiser, Gwen, Zimmerman, Holly H., Blase, Terri L., Fishler, Kristen P.

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Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency von CARR, Christopher W, MORENO-DE-LUCA, Daniel, PARKER, Colette, ZIMMERMAN, Holly H, LEDBETTER, Nikki, LESE MARTIN, Christa, DOBYNS, William B, ABDUL-RAHMAN, Omar A

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Optic Nerve Enlargement in Krabbe Disease: A Pathophysiologic and Clinical Perspective von Hussain, Syed A., Zimmerman, Holly H., Abdul-Rahman, Omar A., Hussaini, Syed M., Parker, Colette C., Khan, Majid

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Chromosome 22q11.2 deletion syndrome in African-American patients: A diagnostic challenge von Veerapandiyan, Aravindhan, Abdul-Rahman, Omar A., Adam, Margaret P., Lyons, Michael J., Manning, Melanie, Coleman, Karlene, Kobrynski, Lisa, Taneja, Deeksha, Schoch, Kelly, Zimmerman, Holly H., Shashi, Vandana

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Telehealth genetic services during the COVID-19 Pandemic: Implementation and patient experiences across multiple specialties in Nebraska von Rezich, Brianna M. Z., Malone, Jaime A., Reiser, Gwen, Zimmerman, Holly H., Blase, Terri L., Fishler, Kristen P.

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Whole-genome copy number variation analysis in anophthalmia and microphthalmia von Schilter, KF, Reis, LM, Schneider, A, Bardakjian, TM, Abdul-Rahman, O, Kozel, BA, Zimmerman, HH, Broeckel, U, Semina, EV

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Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder von Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdul-Rahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E.

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An Ugo1-like protein is associated with optic atrophy ‘plus’ disorders von Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Caporali, Leonardo, La Morgia, Chiara, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdulrahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Julia, Dallman, Zuchner, Stephan

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Abstracts of the 52nd Workshop for Pediatric Research von Weil, Patrick P, Schreiner, Philipp, Juranek, Stefan, Gödde, Daniel, Schuster, Frauke, Postberg, Jan, Heringer, Jana, Haege, Gisela, Hoffmann, Georg F, Faady Yahya, Moiseenko, Alena, Ahmadvand, Negah, Zimmer, Klaus-Peter, Prokisch, Holger, Seeliger, Stephan, Müller, Matthias, Hippe, Andreas, Steinkraus, Henrik, Wauer, Roland, Hofmann, Sigrun R, Hedrich, Christian M, Haeckel, Rainer, Rascher, Wolfgang, Richter, Cornelia, Ryser, Martin, Arshad, Jamal, Ashton, Michelle P, Malte von Bonin, Kuhn, Matthias, Bonifacio, Ezio, Berner, Reinhard, Brenner, Sebastian, Hammersen, Johanna, Söder, Stephan, Tardieu, Mathilde, Bohne, F, Cencic, R, Zepp, F, Enklaar, T, Pech, Martin, Weckmann, Markus, Heinsen, Femke-Anouska, Franke, Andre, Dittrich, Anna-Maria, Hansen, Gesine, Erika von Mutius, Kopp, Matthias V, Russo, Alexandra, Theruvath, Johanna, Keller, Bettina, Lehmann, Nadine, Wingerter, Arthur, Neu, Marie A, Gerhold-Ay Aslihan, Sommer, Clemens, Pietsch, Torsten, Faber, Jörg, Ackermann, Merle, Rother, Eva, Bilkei-Gorzo, Andras, Racz, Ildiko, Zimmer, Andreas, Woelfle, Joachim, Fischer, Hendrik S, Czernik, Christoph, Schmalisch, Gerd, Hagenbuchner, Judith, Kiechl-Kohlendorfer, Ursula, Loges, Niki T, Wallmeier, Julia, Omran, Heymut, Öner-Sieben, Soner, Gimpfl, Martina, Rozman, Jan, Irmler, Martin, Martin Hrabe De Angelis, Wolf, Eckhard, Nemes, Karolina, Frühwald, Michael, Hasselblatt, Martin, Wang, Haicui, Hardy, Holly, Barwick, Katy E S, Weis, Joachim, Baple, Emma L, Crosby, Andrew H, Cirak, Sebahattin, Standl, M, Heinrich, J, Thiering, E, Koletzko, B, Blümel, Lena, Picard, Daniel, Frühwald, Michael C, Liebau, Max C, Arndt Borkhardt, Tews, D, Wabitsch, M, Mike-Andrew Westhoff, Langhans, Julia

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Abstracts of the 52nd Workshop for Pediatric Research: Frankfurt, Germany. 27-28 October 2016 von Weil, Patrick P., Ziegenhals, Thomas, Juranek, Stefan, Gödde, Daniel, Vogel, Silvia, Schuster, Frauke, Dörner, Johannes, Pembaur, Daniel, Störkel, Stefan, Wirth, Stefan, Boy, Nikolas, Heringer, Jana, Haege, Gisela, Glahn, Esther M., Burgard, Peter, Kölker, Stefan, Shrestha, Amit, Ahmadvand, Negah, Kölker, Stefan, Prokisch, Holger, Hoffmann, Georg F., Seeliger, Stephan, Hippe, Andreas, Hofmann, Sigrun R., Rauh, Manfred, Metzler, Markus, Bandoła, Joanna, Richter, Cornelia, Ryser, Martin, Ashton, Michelle P., von Bonin, Malte, Hedrich, Christian M., Berner, Reinhard, Brenner, Sebastian, Stachel, Daniel, Kiritsi, Dimitra, Söder, Stephan, Metzler, Markus, Bohne, F., Eggermann, T., Zechner, U., Prawitt, D., Pech, Martin, Weckmann, Markus, Franke, Andre, Happle, Christine, Hansen, Gesine, Fuchs, Oliver, von Mutius, Erika, Oliver, Brian G., Paret, Claudia, Keller, Bettina, Lehmann, Nadine, Wingerter, Arthur, Aslihan, Gerhold-Ay, Wagner, Wolfgang, Seidmann, Larissa, Faber, Jörg, Schreiner, Felix, Ackermann, Merle, Racz, Ildiko, Lutz, Beat, Dötsch, Jörg, Zimmer, Andreas, Fischer, Hendrik S., Bührer, Christoph, Czernik, Christoph, Hofmann, Sigrun R., Hagenbuchner, Judith, Obexer, Petra, Ausserlechner, Michael J., Loges, Niki T., Frommer, Adrien Tobias, Öner-Sieben, Soner, Gimpfl, Martina, Beckers, Johannes, Roscher, Adelbert, Wolf, Eckhard, Ensenauer, Regina, Hasselblatt, Martin, Siebert, Reiner, Kordes, Uwe, Kool, Marcel, Hardy, Holly, Refai, Osama, Zimmerman, Holly H., Baple, Emma L., Standl, M., Thiering, E., Koletzko, B., Picard, Daniel, Frühwald, Michael C., Reifenberger, Guido, Hasselblatt, Martin, Wabitsch, M., Westhoff, Mike-Andrew, Langhans, Julia, Schneele, Lukas, Trenkler, Nancy, Debatin, Klaus-Michael

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First Case of 2019 Novel Coronavirus in the United States von Holshue, Michelle L, DeBolt, Chas, Lindquist, Scott, Lofy, Kathy H, Wiesman, John, Bruce, Hollianne, Spitters, Christopher, Ericson, Keith, Wilkerson, Sara, Tural, Ahmet, Diaz, George, Cohn, Amanda, Fox, LeAnne, Patel, Anita, Gerber, Susan I, Kim, Lindsay, Tong, Suxiang, Lu, Xiaoyan, Lindstrom, Steve, Pallansch, Mark A, Weldon, William C, Biggs, Holly M, Uyeki, Timothy M, Pillai, Satish K

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De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene von Chemin, Jean, Siquier-Pernet, Karine, Nicouleau, Michaël, Barcia, Giulia, Ahmad, Ali, Medina-Cano, Daniel, Hanein, Sylvain, Altin, Nami, Hubert, Laurence, Bole-Feysot, Christine, Fourage, Cécile, Nitschké, Patrick, Thevenon, Julien, Rio, Marlène, Blanc, Pierre, vidal, Céline, Bahi-Buisson, Nadia, Desguerre, Isabelle, Munnich, Arnold, Lyonnet, Stanislas, Boddaert, Nathalie, Fassi, Emily, Shinawi, Marwan, Zimmerman, Holly, Amiel, Jeanne, Faivre, Laurence, Colleaux, Laurence, Lory, Philippe, Cantagrel, Vincent

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Clinical Outcomes of Stereotactic Radiosurgery-Related Radiation Necrosis in Patients with Intracranial Metastasis from Melanoma von Thomson, Holly M, Fortin Ensign, Shannon P, Edmonds, Victoria S, Sharma, Akanksha, Butterfield, Richard J, Schild, Steven E, Ashman, Jonathan B, Zimmerman, Richard S, Patel, Naresh P, Bryce, Alan H, Vora, Sujay A, Sio, Terence T, Porter, Alyx B

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A randomized, double-blind, placebo-controlled trial of coenzyme Q10 in Huntington disease von McGarry, Andrew, McDermott, Michael, Kieburtz, Karl, de Blieck, Elisabeth A., Beal, Flint, Marder, Karen, Ross, Christopher, Shoulson, Ira, Gilbert, Peter, Mallonee, William M., Guttman, Mark, Wojcieszek, Joanne, Kumar, Rajeev, LeDoux, Mark S., Jenkins, Mary, Rosas, H. Diana, Nance, Martha, Biglan, Kevin, Como, Peter, Dubinsky, Richard M., Shannon, Kathleen M., OʼSuilleabhain, Padraig, Chou, Kelvin, Walker, Francis, Martin, Wayne, Wheelock, Vicki L., McCusker, Elizabeth, Jankovic, Joseph, Singer, Carlos, Sanchez-Ramos, Juan, Scott, Burton, Suchowersky, Oksana, Factor, Stewart A., Higgins, Donald S., Molho, Eric, Revilla, Fredy, Caviness, John N., Friedman, Joseph H., Perlmutter, Joel S., Feigin, Andrew, Anderson, Karen, Rodriguez, Ramon, McFarland, Nikolaus R., Margolis, Russell L., Farbman, Eric S., Raymond, Lynn A., Suski, Valerie, Kostyk, Sandra, Colcher, Amy, Seeberger, Lauren, Epping, Eric, Esmail, Sherali, Diaz, Nancy, Fung, Wai Lun Alan, Diamond, Alan, Frank, Samuel, Hanna, Philip, Hermanowicz, Neal, Dure, Leon S., Cudkowicz, Merit

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