未登录 SLC13A5 citrate transporter disorder epilepsy phenotype SLC13A5 柠檬酸转运蛋白障碍癫痫表型 Ozlu, Can; Spelbrink, Emily M.; Brown, Tanya L.; Nye, Kimberly L.; Solidum, Rayan M.; Cooper, Sydney; Best, Carrie R.; Armstrong, Dallas; Liu, Judy; Goodspeed, Kimberly; Porter, Brenda E. 分享 收藏
Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder Ozlu, Can; Adams, Raegan M.; Solidum, Rayann M.; Cooper, Sydney; Best, Carrie R.; Elacio, Jennifer; Kavanaugh, Brian C.; Spelbrink, Emily M.; Brown, Tanya L.; Nye, Kimberly; Liu, Judy S.; Bailey, Rachel M.; Goodspeed, Kimberly; Porter, Brenda E. 分享 收藏
Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults Kavanaugh, Brian C.; Elacio, Jennifer; Best, Carrie R.; St Pierre, Danielle G.; Pescosolido, Matthew F.; Ouyang, Qing; Biedermann, John; Bradley, Rebecca S.; Liu, Judy S.; Jones, Richard N.; Morrow, Eric M. 分享 收藏
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Analysis Of Differentially Expressed Genes By RNA-Sequencing In 38 Cases of Rasmussen Encephalitis: New Insights on Non-Inflammatory Pathways Bartolini, Luca; Chan, Felix; Lob, Karen; Wu, Qing; Uzun, Dilber Ece; Oluigbo, Chima; Gaillard, William; Chang, Julia; Mathern, Gary; Liu, Judy 分享 收藏
BIOMARKERS FOR BIOCHEMICAL, PATHOPHYSIOLOGICAL, AND NEUROLOGICAL EFFECTS OF HIGH AMMONIA ON THE BRAIN Caldovic, Ljubica; Li, Tina; Sonaimuthu, Parthasarathy; Smith, Nathan; Liu, Judy; Scafidi, Joseph; Tu, Tsang-Wei; Hsu, Chao-Hsiung; Agaronyan, Artur; Morizono, Hiroki; Gropman, Andrea; Mew, Nicholas Ah. 分享 收藏
Proceedings of the Sleep and Epilepsy Workshop: Section 1 Decreasing Seizures-Improving Sleep and Seizures, Themes for Future Research Quigg, Mark; Bazil, Carl W.; Boly, Melanie; St Louis, Erik; Liu, Judy; Ptacek, Louis; Maganti, Rama; Kalume, Frank; Gluckman, Bruce J.; Pathmanathan, Jay; Pavlova, Milena K.; Buchanan, Gordon F. 分享 收藏
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GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates Ouyang, Qing; Kavanaugh, Brian C.; Joesch-Cohen, Lena; Dubois, Bethany; Wu, Qing; Schmidt, Michael; Baytas, Ozan; Pastore, Stephen F.; Harripaul, Ricardo; Mishra, Sasmita; Hussain, Abrar; Kim, Katherine H.; Holler-Managan, Yolanda F.; Ayub, Muhammad; Mir, Asif; Vincent, John B.; Liu, Judy S.; Morrow, Eric M. 分享 收藏
PRELIMINARY GENETIC ASSOCIATION ANALYSIS OF AN EYETRACKING ENDOPHENOTYPE IN A NIGERIAN FIRST-EPISODE SCHIZOPHRENIA SAMPLE Adegbohun, Abosede; Oduguwa, Taiwo; Adebayo, Richard; Amoo, Isiaka; Liu, Judy; Glassman, Matthew; Summerfelt, Ann; Adebayo, Adeola; Olaniyan, Ayodeji; Adebimpe, Titilope; Kalejaiye, Olufunto; Peters, Olawunmi; Lawal, Rahmaan; Iyegbe, Conrad; Wonodi, Ikwunga 分享 收藏
UFM1 founder mutation in the Roma population causes recessive variant of H-ABC Hamilton, Eline M. C.; Bertini, Enrico; Kalaydjieva, Luba; Morar, Bharti; Dojcakova, Dana; Liu, Judy; Vanderver, Adeline; Curiel, Julian; Persoon, Claudia M.; Diodato, Daria; Pinelli, Lorenzo; van der Meij, Nathalie L.; Plecko, Barbara; Blaser, Susan; Wolf, Nicole I.; Waisfisz, Quinten; Abbink, Truus E. M.; van der Knaap, Marjo S. 分享 收藏
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes Curiel, Julian; Bey, Guillermo Rodriguez; Takanohashi, Asako; Bugiani, Marianna; Fu, Xiaoqin; Wolf, Nicole I.; Nmezi, Bruce; Schiffmann, Raphael; Bugaighis, Mona; Pierson, Tyler; Helman, Guy; Simons, Cas; van der Knaap, Marjo S.; Liu, Judy; Padiath, Quasar; Vanderver, Adeline 分享 收藏
Embryonic transcription factor expression in mice predicts medial amygdala neuronal identity and sex-specific responses to innate behavioral cues 小鼠胚胎转录因子表达预测内侧杏仁核神经元身份和对先天行为线索的性别特异性反应 Lischinsky, Julieta E.; Sokolowski, Katie; Li, Peijun; Esumi, Shigeyuki; Kamal, Yasmin; Goodrich, Meredith; Oboti, Livio; Hammond, Timothy R.; Krishnamoorthy, Meera; Feldman, Daniel; Huntsman, Molly; Liu, Judy; Corbin, Joshua G. 分享 收藏
Rasmussen encephalitis tissue transfer program Kruse, Carol A.; Pardo, Carlos A.; Hartman, Adam L.; Jallo, George; Vining, Eileen P. G.; Voros, Joe; Gaillard, William D.; Liu, Judy; Oluigbo, Chima; Malone, Stephen; Bleasel, Andrew F.; Dexter, Mark; Micati, Alex; Velasco, Tonicarlo R.; Machado, Helio R.; Martino, Anthony M.; Huang, Adam; Wheatley, B. M.; Grant, Gerald A.; Granata, Tiziana; Freri, Elena; Garbelli, Rita; Koh, Sookyong; Nordli, Douglas R.; Campos, Alexandre R.; O'Neill, Brent; Handler, Michael H.; Chapman, Kevin E.; Wilfong, Angus A.; Curry, Daniel J.; Yaun, Amanda; Madsen, Joseph R.; Smyth, Matthew D.; Mercer, Deanna; Bingaman, William; Harvey, A. S.; Leventer, Richard J.; Lockhart, Paul J.; Gillies, Greta; Pope, Kate; Giller, Cole A.; Park, Yong D.; Rojiani, Amyn M.; Sharma, Suash J.; Jenkins, Patrick; Tung, Spencer; Huynh, My N.; Chirwa, Thabiso W.; Cepeda, Carlos; Levine, Michael S.; Chang, Julia W.; Owens, Geoffrey C.; Vinters, Harry V.; Mathern, Gary W. 分享 收藏
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Genetic and Phenotypic Diversity of NHE6 Mutations in Christianson Syndrome Pescosolido, Matthew F.; Stein, David M.; Schmidt, Michael; El Achkar, Christelle Moufawad; Sabbagh, Mark; Rogg, Jeffrey M.; Tantravahi, Umadevi; McLean, Rebecca L.; Liu, Judy S.; Poduri, Annapurna; Morrow, Eric M. 分享 收藏
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