Zoekresultaten - Keller-Ramey, Jennifer

Uniparental disomy in a population of 32,067 clinical exome trios door Scuffins, Julie, Keller-Ramey, Jennifer, Dyer, Lindsay, Douglas, Ganka, Torene, Rebecca, Gainullin, Vladimir, Juusola, Jane, Meck, Jeanne, Retterer, Kyle

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Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca(2+)-Activated K(+) Channel SK3 Cause Zimmermann-Laband Syndrome door Bauer, Christiane K., Schneeberger, Pauline E., Kortüm, Fanny, Altmüller, Janine, Santos-Simarro, Fernando, Baker, Laura, Keller-Ramey, Jennifer, White, Susan M., Campeau, Philippe M., Gripp, Karen W., Kutsche, Kerstin

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De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders door 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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Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy door Peng, Yanyan, Shinde, Deepali N, Valencia, C Alexander, Mo, Jun-Song, Rosenfeld, Jill, Truitt Cho, Megan, Chamberlin, Adam, Li, Zhuo, Liu, Jie, Gui, Baoheng, Brockhage, Rachel, Basinger, Alice, Alvarez-Leon, Brenda, Heydemann, Peter, Magoulas, Pilar L, Lewis, Andrea M, Scaglia, Fernando, Gril, Solange, Chong, Shuk Ching, Bower, Matthew, Monaghan, Kristin G, Willaert, Rebecca, Plona, Maria-Renee, Dineen, Rich, Milan, Francisca, Hoganson, George, Powis, Zoe, Helbig, Katherine L, Keller-Ramey, Jennifer, Harris, Belinda, Anderson, Laura C, Green, Torrian, Sukoff Rizzo, Stacey J, Kaylor, Julie, Chen, Jiani, Guan, Min-Xin, Sellars, Elizabeth, Sparagana, Steven P, Gibson, James B, Reinholdt, Laura G, Tang, Sha, Huang, Taosheng

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Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder door Dias, Caroline M., Punetha, Jaya, Zheng, Céline, Mazaheri, Neda, Rad, Abolfazl, Efthymiou, Stephanie, Petersen, Andrea, Dehghani, Mohammadreza, Pehlivan, Davut, Partlow, Jennifer N., Posey, Jennifer E., Salpietro, Vincenzo, Gezdirici, Alper, Malamiri, Reza Azizi, Al Menabawy, Nihal M., Selim, Laila A., Vahidi Mehrjardi, Mohammad Yahya, Banu, Selina, Polla, Daniel L., Yang, Edward, Rezazadeh Varaghchi, Jamileh, Mitani, Tadahiro, van Beusekom, Ellen, Najafi, Maryam, Sedaghat, Alireza, Keller-Ramey, Jennifer, Durham, Leslie, Coban-Akdemir, Zeynep, Karaca, Ender, Orlova, Valeria, Schaeken, Lieke L.M., Sherafat, Amir, Jhangiani, Shalini N., Stanley, Valentina, Shariati, Gholamreza, Galehdari, Hamid, Gleeson, Joseph G., Walsh, Christopher A., Lupski, James R., Seiradake, Elena, Houlden, Henry, van Bokhoven, Hans, Maroofian, Reza

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Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size door Le Duc, Diana, Giulivi, Cecilia, Hiatt, Susan M, Napoli, Eleonora, Panoutsopoulos, Alexios, Harlan De Crescenzo, Angelo, Kotzaeridou, Urania, Syrbe, Steffen, Anagnostou, Evdokia, Azage, Meron, Bend, Renee, Begtrup, Amber, Brown, Natasha J, Büttner, Benjamin, Cho, Megan T, Cooper, Gregory M, Doering, Jan H, Dubourg, Christèle, Everman, David B, Hildebrand, Michael S, Santos, Francis Jeshira Reynoso, Kellam, Barbara, Keller-Ramey, Jennifer, Lemke, Johannes R, Liu, Shuxi, Niyazov, Dmitriy, Payne, Katelyn, Person, Richard, Quélin, Chloé, Schnur, Rhonda E, Smith, Brooke T, Strober, Jonathan, Walker, Susan, Wallis, Mathew, Walsh, Laurence, Yang, Sandra, Yuen, Ryan K C, Ziegler, Andreas, Sticht, Heinrich, Pride, Michael C, Orosco, Lori, Martínez-Cerdeño, Verónica, Silverman, Jill L, Crawley, Jacqueline N, Scherer, Stephen W, Zarbalis, Konstantinos S, Jamra, Rami

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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome door Weerts, Marjolein J. A., Lanko, Kristina, Guzmán-Vega, Francisco J., Jackson, Adam, Ramakrishnan, Reshmi, Cardona-Londoño, Kelly J., Peña-Guerra, Karla A., van Bever, Yolande, van Paassen, Barbara W., Kievit, Anneke, van Slegtenhorst, Marjon, Allen, Nicholas M., Kehoe, Caroline M., Robinson, Hannah K., Pang, Lewis, Banu, Selina H., Zaman, Mashaya, Efthymiou, Stephanie, Houlden, Henry, Järvelä, Irma, Lauronen, Leena, Määttä, Tuomo, Schrauwen, Isabelle, Leal, Suzanne M., Ruivenkamp, Claudia A. L., Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M. P. C. D., Galehdari, Hamid, Mazaheri, Neda, Sisodiya, Sanjay M., Harrison, Victoria, Sun, Angela, Thies, Jenny, Pedroza, Luis Alberto, Lara-Taranchenko, Yana, Chinn, Ivan K., Lupski, James R., Garza-Flores, Alexandra, McGlothlin, Jeffery, Yang, Lin, Huang, Shaoping, Wang, Xiaodong, Jewett, Tamison, Rosso, Gretchen, Lin, Xi, Mohammed, Shehla, Merritt, J. Lawrence, Mirzaa, Ghayda M., Timms, Andrew E., Scheck, Joshua, Elting, Mariet W., Polstra, Abeltje M., Schenck, Lauren, Ruzhnikov, Maura R. Z., Vetro, Annalisa, Montomoli, Martino, Guerrini, Renzo, Koboldt, Daniel C., Mosher, Theresa Mihalic, Pastore, Matthew T., McBride, Kim L., Peng, Jing, Pan, Zou, Willemsen, Marjolein, Koning, Susanne, Turnpenny, Peter D., de Vries, Bert B. A., Gilissen, Christian, Pfundt, Rolph, Lees, Melissa, Braddock, Stephen R., Klemp, Kara C., Vansenne, Fleur, van Gijn, Marielle E., Quindipan, Catherine, Deardorff, Matthew A., Hamm, J. Austin, Putnam, Abbey M., Baud, Rebecca, Walsh, Laurence, Lynch, Sally A., Baptista, Julia, Person, Richard E., Monaghan, Kristin G., Crunk, Amy, Keller-Ramey, Jennifer, Reich, Adi, Elloumi, Houda Zghal, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Haghshenas, Sadegheh, Maroofian, Reza, Sadikovic, Bekim, Banka, Siddharth, Arold, Stefan T., Barakat, Tahsin Stefan

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