खोज परिणाम - Basinger, Alice

  • प्रदर्शित 1 - 11 परिणाम 11
परिणाम को परिष्कृत करें
  1. 1
    De Novo Mutation in POLG Leads to Haplotype Insufficiency and Alpers Syndrome

    De Novo Mutation in POLG Leads to Haplotype Insufficiency and Alpers Syndrome द्वारा Chan, Sherine S. L., Naviaux, Robert K., Basinger, Alice A., Casas, Kari A., Copeland, William C.

    प्रकाशित 2009
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  2. 2
    De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

    De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism द्वारा Tanaka, Akemi J., Cho, Megan T., Willaert, Rebecca, Retterer, Kyle, Zarate, Yuri A., Bosanko, Katie, Stefans, Vikki, Oishi, Kimihiko, Williamson, Amy, Wilson, Golder N., Basinger, Alice, Barbaro-Dieber, Tina, Ortega, Lucia, Sorrentino, Susanna, Gabriel, Melissa K., Anderson, Ilse J., Sacoto, Maria J. Guillen, Schnur, Rhonda E., Chung, Wendy K.

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  3. 3
    Molecular and Clinical Genetics of Mitochondrial Diseases Due to POLG Mutations

    Molecular and Clinical Genetics of Mitochondrial Diseases Due to POLG Mutations द्वारा Wong, Lee-Jun C., Naviaux, Robert K., Brunetti-Pierri, Nicola, Zhang, Qing, Schmitt, Eric S., Truong, Cavatina, Milone, Margherita, Cohen, Bruce H., Wical, Beverly, Ganesh, Jaya, Basinger, Alice A., Burton, Barbara K., Swoboda, Kathryn, Gilbert, Donald L., Vanderver, Adeline, Saneto, Russell P., Maranda, Bruno, Arnold, Georgianne, Abdenur, Jose E., Waters, Paula J., Copeland, William C.

    प्रकाशित 2008
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  4. 4
    Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability

    Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability द्वारा Wei, Aguan D., Wakenight, Paul, Zwingman, Theresa A., Bard, Angela M., Sahai, Nikhil, Willemsen, Marjolein H., Schelhaas, Helenius J., Stegmann, Alexander P. A., Verhoeven, Judith S., de Man, Stella A., Wessels, Marja W., Kleefstra, Tjitske, Shinde, Deepali N., Helbig, Katherine L., Basinger, Alice, Wagner, Victoria F., Rodriguez-Buritica, David, Bryant, Emily, Millichap, John J., Millen, Kathleen J., Dobyns, William B., Ramirez, Jan-Marino, Kalume, Franck K.

    प्रकाशित 2022
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  5. 5
    Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

    Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood द्वारा Vögtle, F.-Nora, Brändl, Björn, Larson, Austin, Pendziwiat, Manuela, Friederich, Marisa W., White, Susan M., Basinger, Alice, Kücükköse, Cansu, Muhle, Hiltrud, Jähn, Johanna A., Keminer, Oliver, Helbig, Katherine L., Delto, Carolyn F., Myketin, Lisa, Mossmann, Dirk, Burger, Nils, Miyake, Noriko, Burnett, Audrey, van Baalen, Andreas, Lovell, Mark A., Matsumoto, Naomichi, Walsh, Maie, Yu, Hung-Chun, Shinde, Deepali N., Stephani, Ulrich, Van Hove, Johan L.K., Müller, Franz-Josef, Helbig, Ingo

    प्रकाशित 2018
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  6. 6
    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants द्वारा 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.

    प्रकाशित 2018
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  7. 7
    Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

    Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants द्वारा 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.

    प्रकाशित 2018
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  8. 8
    Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

    Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy द्वारा 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

    प्रकाशित 2017
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  9. 9
    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures द्वारा Petrovski, Slavé, Küry, Sébastien, Myers, Candace T., Anyane-Yeboa, Kwame, Cogné, Benjamin, Bialer, Martin, Xia, Fan, Hemati, Parisa, Riviello, James, Mehaffey, Michele, Besnard, Thomas, Becraft, Emily, Wadley, Alexandrea, Politi, Anya Revah, Colombo, Sophie, Zhu, Xiaolin, Ren, Zhong, Andrews, Ian, Dudding-Byth, Tracy, Schneider, Amy L., Wallace, Geoffrey, Rosen, Aaron B.I., Schelley, Susan, Enns, Gregory M., Corre, Pierre, Dalton, Joline, Mercier, Sandra, Latypova, Xénia, Schmitt, Sébastien, Guzman, Edwin, Moore, Christine, Bier, Louise, Heinzen, Erin L., Karachunski, Peter, Shur, Natasha, Grebe, Theresa, Basinger, Alice, Nguyen, Joanne M., Bézieau, Stéphane, Wierenga, Klaas, Bernstein, Jonathan A., Scheffer, Ingrid E., Rosenfeld, Jill A., Mefford, Heather C., Isidor, Bertrand, Goldstein, David B.

    प्रकाशित 2016
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  10. 10
    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy द्वारा O’Donnell-Luria, Anne H., Pais, Lynn S., Faundes, Víctor, Wood, Jordan C., Sveden, Abigail, Luria, Victor, Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Anderlid, Britt Marie, Azzarello-Burri, Silvia, Basinger, Alice A., Bianchini, Claudia, Bird, Lynne M., Buchert, Rebecca, Carre, Wilfrid, Ceulemans, Sophia, Charles, Perrine, Cox, Helen, Culliton, Lisa, Currò, Aurora, Demurger, Florence, Dowling, James J., Duban-Bedu, Benedicte, Dubourg, Christèle, Eiset, Saga Elise, Escobar, Luis F., Ferrarini, Alessandra, Haack, Tobias B., Hashim, Mona, Heide, Solveig, Helbig, Katherine L., Helbig, Ingo, Heredia, Raul, Héron, Delphine, Isidor, Bertrand, Jonasson, Amy R., Joset, Pascal, Keren, Boris, Kok, Fernando, Kroes, Hester Y., Lavillaureix, Alinoë, Lu, Xin, Maas, Saskia M., Maegawa, Gustavo H.B., Marcelis, Carlo L.M., Mark, Paul R., Masruha, Marcelo R., McLaughlin, Heather M., McWalter, Kirsty, Melchinger, Esther U., Mercimek-Andrews, Saadet, Nava, Caroline, Pendziwiat, Manuela, Person, Richard, Ramelli, Gian Paolo, Ramos, Luiza L.P., Rauch, Anita, Reavey, Caitlin, Renieri, Alessandra, Rieß, Angelika, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Schwarz, Niklas, Smol, Thomas, Srour, Myriam, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C., Telegrafi, Aida, Thiffault, Isabelle, Trauner, Doris A., van der Linden, Helio, van Koningsbruggen, Silvana, Villard, Laurent, Vogel, Ida, Vogt, Julie, Weber, Yvonne G., Wentzensen, Ingrid M., Widjaja, Elysa, Zak, Jaroslav, Baxter, Samantha, Banka, Siddharth, Rodan, Lance H.

    प्रकाशित 2019
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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  11. 11
    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders द्वारा Gillentine, Madelyn A., Wang, Tianyun, Hoekzema, Kendra, Rosenfeld, Jill, Liu, Pengfei, Guo, Hui, Kim, Chang N., De Vries, Bert B. A., Vissers, Lisenka E. L. M., Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Srivastava, Siddharth, Atwal, Paldeep, Bacino, Carlos A., Bhat, Gifty, Cobian, Katherine, Bird, Lynne M., Friedman, Jennifer, Wright, Meredith S., Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Christensen, Celenie K., White, Kerry M., Elpeleg, Orly, Berger, Itai, Espineli, Edward J., Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vento, Jodie, Vats, Divya, Benman, L. Manace, Mckee, Shane, Mirzaa, Ghayda M., Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen E. H., van Gassen, Koen L. I., Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, Earl, Rachel K., Nowakowski, Tomasz, Bernier, Raphael A., Eichler, Evan E.

    प्रकाशित 2021
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
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