Hakutulokset - Fleming, Leah
- Näytetään 1 - 13 yhteensä 13 tuloksesta
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Genotype–Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/ PIGN-Related Epilepsy Tekijä Fleming, Leah, Lemmon, Monica, Beck, Natalie, Johnson, Maria, Mu, Weiyi, Murdock, David, Bodurtha, Joann, Hoover-Fong, Julie, Cohn, Ronald, Bosemani, Thangamadhan, Barañano, Kristin, Hamosh, Ada
Julkaistu 2015Teksti -
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Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features Tekijä Ballout, Rami A., Dickerson, Cheryl, Wick, Myra J., Al-Sweel, Najla, Openshaw, Amanda S., Srivastava, Siddharth, Swanson, Lindsay, Bramswig, Nuria C., Kuechler, Alma, Hong, Bo, Fleming, Leah R., Curry, KT, Robertson, Stephen P., Andersen, Erica F., El-Hattab, Ayman W.
Julkaistu 2020Teksti -
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Prospective Evaluation of Kidney Disease in Joubert Syndrome Tekijä Fleming, Leah R., Doherty, Daniel A., Parisi, Melissa A., Glass, Ian A., Bryant, Joy, Fischer, Roxanne, Turkbey, Baris, Choyke, Peter, Daryanani, Kailash, Vemulapalli, Meghana, Mullikin, James C., Malicdan, May Christine, Vilboux, Thierry, Sayer, John A., Gahl, William A., Gunay-Aygun, Meral
Julkaistu 2017Teksti -
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A multicenter study of ketamine effects on functional connectivity: Large scale network relationships, hubs and symptom mechanisms Tekijä Fleming, Leah M., Javitt, Daniel C., Carter, Cameron S., Kantrowitz, Joshua T., Girgis, Ragy R., Kegeles, Lawrence S., Ragland, John D., Maddock, Richard J., Lesh, Tyler A., Tanase, Costin, Robinson, James, Potter, William Z., Carlson, Marlene, Wall, Melanie M., Choo, Tse-Hwei, Grinband, Jack, Lieberman, Jeffrey, Krystal, John H., Corlett, Philip R.
Julkaistu 2019Teksti -
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Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome Tekijä Telegrafi, Aida, Webb, Bryn D., Robbins, Sarah M., Speck-Martins, Carlos E., FitzPatrick, David, Fleming, Leah, Redett, Richard, Dufke, Andres, Houge, Gunnar, van Harssel, Jeske J.T., Verloes, Alain, Robles, Angela, Manoli, Irini, Engle, Elizabeth C., Jabs, Ethylin Wang, Valle, David, Carey, John, Hoover-Fong, Julie E., Sobreira, Nara L.M.
Julkaistu 2017Teksti -
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Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome Tekijä Lynch, Danielle C., Revil, Timothée, Schwartzentruber, Jeremy, Bhoj, Elizabeth J., Innes, A. Micheil, Lamont, Ryan E., Lemire, Edmond G., Chodirker, Bernard N., Taylor, Juliet P., Zackai, Elaine H., McLeod, D. Ross, Kirk, Edwin P., Hoover-Fong, Julie, Fleming, Leah, Savarirayan, Ravi, Majewski, Jacek, Jerome-Majewska, Loydie A., Parboosingh, Jillian S., Bernier, Francois P.
Julkaistu 2014Teksti -
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DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome Tekijä Stenton, Sarah L., Tesarova, Marketa, Sheremet, Natalia L., Catarino, Claudia B., Carelli, Valerio, Ciara, Elżbieta, Curry, Kathryn, Engvall, Martin, Fleming, Leah R., Freisinger, Peter, Iwanicka-Pronicka, Katarzyna, Jurkiewicz, Elżbieta, Klopstock, Thomas, Koenig, Mary K., Kolářová, Hana, Kousal, Bohdan, Krylova, Tatiana, La Morgia, Chiara, Nosková, Lenka, Piekutowska-Abramczuk, Dorota, Russo, Sam N., Stránecký, Viktor, Tóthová, Iveta, Träisk, Frank, Prokisch, Holger
Julkaistu 2022Teksti -
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TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants Tekijä 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.
Julkaistu 2018Teksti -
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Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants Tekijä 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.
Julkaistu 2018Teksti -
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Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder Tekijä Polla, Daniel L., Fard, Mohammad Ali Farazi, Tabatabaei, Zahra, Habibzadeh, Parham, Levchenko, Olga A., Nikuei, Pooneh, Makrythanasis, Periklis, Hussain, Mureed, von Hardenberg, Sandra, Zeinali, Sirous, Fallah, Mohammad-Sadegh, Schuurs-Hoeijmakers, Janneke H. M., Shahzad, Mohsin, Fatima, Fareeha, Fatima, Neelam, Kaat, Laura Donker, Bruggenwirth, Hennie T., Fleming, Leah R., Condie, John, Ploski, Rafal, Pollak, Agnieszka, Pilch, Jacek, Demina, Nina A., Chukhrova, Alena L., Sergeeva, Vasilina S., Venselaar, Hanka, Masri, Amira T., Hamamy, Hanan, Santoni, Federico A., Linda, Katrin, Ahmed, Zubair M., Kasri, Nael Nadif, de Brouwer, Arjan P. M., Bergmann, Anke K., Hethey, Sven, Yavarian, Majid, Ansar, Muhammad, Riazuddin, Saima, Riazuddin, Sheikh, Silawi, Mohammad, Ruggeri, Gaia, Pirozzi, Filomena, Eftekhar, Ebrahim, Sheshdeh, Afsaneh Taghipour, Bahramjahan, Shima, Mirzaa, Ghayda M., Lavrov, Alexander V., Antonarakis, Stylianos E., Faghihi, Mohammad Ali, van Bokhoven, Hans
Julkaistu 2021Teksti