Showing 1 - 20 results of 20 for search '"Tobias, Bartolomaeus"', query time: 3.64s Refine Results  

Genome Sequencing for Diagnosing Rare Diseases

by Wojcik, Monica H., Lemire, Gabrielle, Berger, Eva, Zaki, Maha S., Wissmann, Mariel, Win, Wathone, White, Susan M., Weisburd, Ben, Wieczorek, Dagmar, Waddell, Leigh B., Verboon, Jeffrey M., VanNoy, Grace E., Töpf, Ana, Tan, Tiong Yang, Syrbe, Steffen, Strehlow, Vincent, Straub, Volker, Stenton, Sarah L., Snow, Hana, Singer-Berk, Moriel, Silver, Josh, Shril, Shirlee, Seaby, Eleanor G., Schneider, Ronen, Sankaran, Vijay G., Sanchis-Juan, Alba, Russell, Kathryn A., Reinson, Karit, Ravenscroft, Gianina, Radtke, Maximilian, Popp, Denny, Polster, Tilman, Platzer, Konrad, Pierce, Eric A., Place, Emily M., Pajusalu, Sander, Pais, Lynn, Õunap, Katrin, Osei-Owusu, Ikeoluwa, Opperman, Henry, Okur, Volkan, Oja, Kaisa Teele, O’Leary, Melanie, O’Heir, Emily, Morel, Chantal F., Merkenschlager, Andreas, Marchant, Rhett G., Mangilog, Brian E., Madden, Jill A., MacArthur, Daniel, Lovgren, Alysia, Lerner-Ellis, Jordan P., Lin, Jasmine, Laing, Nigel, Hildebrandt, Friedhelm, Hentschel, Julia, Groopman, Emily, Goodrich, Julia, Gleeson, Joseph G., Ghaoui, Roula, Genetti, Casie A., Gburek-Augustat, Janina, Gazda, Hanna T., Ganesh, Vijay S., Ganapathi, Mythily, Gallacher, Lyndon, Fu, Jack M., Evangelista, Emily, England, Eleina, Donkervoort, Sandra, DiTroia, Stephanie, Cooper, Sandra T., Chung, Wendy K., Christodoulou, John, Chao, Katherine R., Cato, Liam D., Bujakowska, Kinga M., Bryen, Samantha J., Brand, Harrison, Bönnemann, Carsten G., Beggs, Alan H., Baxter, Samantha M., Bartolomaeus, Tobias, Agrawal, Pankaj B., Talkowski, Michael, Austin-Tse, Christina, Abou Jamra, Rami, Rehm, Heidi L., O’Donnell-Luria, Anne
Published in The New England journal of medicine (06.06.2024)

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Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

by Connaughton, Dervla M., Dai, Rufeng, Owen, Danielle J., Marquez, Jonathan, Mann, Nina, Graham-Paquin, Adda L., Nakayama, Makiko, Coyaud, Etienne, Laurent, Estelle M.N., St-Germain, Jonathan R., Blok, Lot Snijders, Vino, Arianna, Klämbt, Verena, Deutsch, Konstantin, Wu, Chen-Han Wilfred, Kolvenbach, Caroline M., Kause, Franziska, Ottlewski, Isabel, Schneider, Ronen, Kitzler, Thomas M., Majmundar, Amar J., Buerger, Florian, Onuchic-Whitford, Ana C., Youying, Mao, Kolb, Amy, Salmanullah, Daanya, Chen, Evan, van der Ven, Amelie T., Rao, Jia, Ityel, Hadas, Seltzsam, Steve, Rieke, Johanna M., Chen, Jing, Vivante, Asaf, Hwang, Daw-Yang, Kohl, Stefan, Dworschak, Gabriel C., Hermle, Tobias, Alders, Mariëlle, Bartolomaeus, Tobias, Bauer, Stuart B., Baum, Michelle A., Brilstra, Eva H., Challman, Thomas D., Zyskind, Jacob, Costin, Carrie E., Dipple, Katrina M., Duijkers, Floor A., Ferguson, Marcia, Fitzpatrick, David R., Fick, Roger, Glass, Ian A., Hulick, Peter J., Kline, Antonie D., Krey, Ilona, Kumar, Selvin, Lu, Weining, Marco, Elysa J., Wentzensen, Ingrid M., Mefford, Heather C., Platzer, Konrad, Povolotskaya, Inna S., Savatt, Juliann M., Shcherbakova, Natalia V., Senguttuvan, Prabha, Squire, Audrey E., Stein, Deborah R., Thiffault, Isabelle, Voinova, Victoria Y., Somers, Michael J.G., Ferguson, Michael A., Traum, Avram Z., Daouk, Ghaleb H., Daga, Ankana, Rodig, Nancy M., Terhal, Paulien A., van Binsbergen, Ellen, Eid, Loai A., Tasic, Velibor, Rasouly, Hila Milo, Lim, Tze Y., Ahram, Dina F., Gharavi, Ali G., Reutter, Heiko M., Rehm, Heidi L., MacArthur, Daniel G., Lek, Monkol, Laricchia, Kristen M., Lifton, Richard P., Xu, Hong, Mane, Shrikant M., Sanna-Cherchi, Simone, Sharrocks, Andrew D., Raught, Brian, Fisher, Simon E., Bouchard, Maxime, Khokha, Mustafa K., Shril, Shirlee, Hildebrandt, Friedhelm
Published in American journal of human genetics (01.10.2020)

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Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

by Mignot, Cyril, Littlejohn, Rebecca O., Bademci, Guney, Balasubramanyam, Ashok, Beck, Anita, Berg-Rood, Beverly, Berry, Gerard T., Bican, Anna, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Butte, Manish J., Peter Chang, Ta Chen, D'Souza, Precilla, Dasari, Surendra, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Gahl, William A., Goddard, Page C., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hutchison, Sarah, Izumi, Kosuke, Jarvik, Gail P., Jayadev, Suman, Jean-Marie, Orpa, Kennedy, Jennifer, Ketkar, Shamika, Kohane, Isaac S., Kohler, Jennefer N., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Levitt, Roy, Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Macnamara, Ellen F., Maduro, Valerie V., Manolio, Teri A., Marth, Gabor, Martin, Beth A., Marwaha, Shruti, McConkie-Rosell, Allyn, McCray, Alexa T., Morava, Eva, Nakano-Okuno, Mariko, Newman, John H., Nickerson, Deborah, Oglesbee, Devin, Pallais, J. Carl, Phillips, John A., Rosenwasser, Natalie, Schedl, Timothy, Shashi, Vandana, Sisco, Kathy, Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Sullivan, Jennifer A., Sweetser, David A., Sybert, Virginia, Tekin, Mustafa, Telischi, Fred, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Ward, Patricia A., Hubshman, Monika Weisz, Wenger, Tara, Westerfield, Monte, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Sarret, Catherine, Platzer, Konrad, Fischer, Susann, Granadillo, Jorge L., Schreiner, Elisabeth
Published in Pediatric neurology (01.11.2024)

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Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

by Morsy, Heba, Benkirane, Mehdi, Cali, Elisa, Zhelcheska, Kristina, Cipriani, Valentina, Galanaki, Evangelia, Maroofian, Reza, Efthymiou, Stephanie, Murphy, David, Banka, Siddharth, Clayton-Smith, Jill, Redman, Melody, Bassetti, Jennifer A., Nizon, Mathilde, Jamra, Rami Abu, Heruth, Marion, Krey, Ilona, Gburek-Augustat, Janina, Wieczorek, Dagmar, Mcentagart, Meriel, Goldenberg, Alice, Guyant-Marechal, Lucie, Garcia-Moreno, Hector, Giunti, Paola, Chabrol, Brigitte, Bacrot, Severine, Buissonnière, Roger, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Melegh, Béla, Szabó, András, Sümegi, Katalin, Cossée, Mireille, Ziff, Monica, Butterfield, Russell, Hunt, David, Hanna, Michael, Koenig, Michel, Vandrovcova, Jana, Houlden, Henry, Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Daugherty, L.C., Devereau, A., Foulger, R.E., Fowler, T., Furió-Tarí, P., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Lahnstein, L., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Odhams, C.A., Patch, C., Perez-Gil, D., Pullinger, J., Rahim, T., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Stevens, H.E., Stuckey, A., Sultana, R., Thompson, S.R., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M.
Published in Genetics in medicine (01.01.2023)

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