未登录 Towards precision medicine for brain arteriovenous malformations 脑动静脉畸形的精准医学研究进展 Hale, Andrew T.; Kundishora, Adam J.; Kalailingam, Pazhanichamy; Barak, Tanyeri; Duy, Phan Q.; Ramundo, Christopher M.; Fan, Baojian; Li, Qiang; Brastianos, Priscilla K.; Shankar, Ganesh M.; Alper, Seth L.; Kleinstiver, Benjamin P.; Musolino, Patricia L.; Kahle, Kristopher T. 分享 收藏
An opportune time for targeted brain arteriovenous malformation therapy 靶向脑动静脉畸形治疗的有利时机 Hale, Andrew T.; Kalailingam, Pazhanichamy; Kundishora, Adam J.; Reeves, Benjamin C.; Brastianos, Priscilla K.; Shih, Helen A.; Jain, Rakesh K.; Ning, Mingming; Stapleton, Christopher J.; Patel, Aman B.; Smith, Edward R.; Chapman, Paul H.; Rabinov, James D.; Kleinstiver, Benjamin P.; Musolino, Patricia L.; Kahle, Kristopher T. 分享 收藏
Delayed Bilateral Internal Carotid Artery Occlusion in a Pediatric Patient Following Traumatic Injury: Insights on Management and Interventional Approach 创伤性损伤后儿科患者延迟性双侧颈内动脉闭塞：关于管理策略和介入治疗方法的见解 Belfer, Samuel J.; Beslow, Lauren A.; Vaz, Alexander; Shekdar, Karuna; Pollock, Avrum; Mehta, Sanjiv; Resendiz, Karla; Raffini, Leslie; Cahill, Anne Marie; Catapano, Joshua; Kundishora, Adam J. 分享 收藏
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The Shadowy Boundary Between Life and Death: How Physicians Manage Non-Survivable Head Trauma Salwi, Sanjana; Castellanos, Mackenzie; Murphy, Therese; Patel, Pious D.; Ajmera, Sonia; Vaz, Alex; Bond, Kamila; Wathen, Connor; Kundishora, Adam; Martin, Niels; Kumar, Monisha; Schuster, James M.; Petrov, Dmitriy 分享 收藏
Cerebellar Overgrowth Subtype of Chiari Malformation Type 1 and Genetic Dysregulation of PI3K Signaling Mekbib, Kedous Yared; Munoz, William; Allington, Garrett; Mcgee, Stephen; Kiziltug, Emre; Despenza, Tyrone; Fortes, Carla; Nelson-Williams, Carol; Mehta, Neel; Smith, Hannah; Zhao, Shujuan; Shofi, John; Ocken, Jack; Reeves, Benjamin; Greenberg, Ana; Kundishora, Adam; Moreno-De-Luca, Andres; Jin, Sheng Chih; Alper, Seth; Lifton, Richard P.; Butler, William; Kahle, Kristopher Thomas 分享 收藏
Human genetics and molecular genomics of Chiari malformation type 1 Mekbib, Kedous Y.; Munoz, William; Allington, Garrett; Mcgee, Stephen; Mehta, Neel H.; Shofi, John P.; Fortes, Carla; Le, Hao Thi; Nelson-Williams, Carol; Nanda, Pranav; Dennis, Evan; Kundishora, Adam J.; Khanna, Arjun; Smith, Hannah; Ocken, Jack; Greenberg, Ana B. W.; Wu, Rui; Moreno-De-Luca, Andres; DeSpenza Jr, Tyrone; Zhao, Shujuan; Marlier, Arnaud; Jin, Sheng Chih; Alper, Seth L.; Butler, William E.; Kahle, Kristopher T. 分享 收藏
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations Zhao, Shujuan; Mekbib, Kedous Y.; van der Ent, Martijn A.; Allington, Garrett; Prendergast, Andrew; Chau, Jocelyn E.; Smith, Hannah; Shohfi, John; Ocken, Jack; Duran, Daniel; Furey, Charuta G.; Hao, Le Thi; Duy, Phan Q.; Reeves, Benjamin C.; Zhang, Junhui; Nelson-Williams, Carol; Chen, Di; Li, Boyang; Nottoli, Timothy; Bai, Suxia; Rolle, Myron; Zeng, Xue; Dong, Weilai; Fu, Po-Ying; Wang, Yung-Chun; Mane, Shrikant; Piwowarczyk, Paulina; Fehnel, Katie Pricola; See, Alfred Pokmeng; Iskandar, Bermans J.; Aagaard-Kienitz, Beverly; Moyer, Quentin J.; Dennis, Evan; Kiziltug, Emre; Kundishora, Adam J.; DeSpenza Jr, Tyrone; Greenberg, Ana B. W.; Kidanemariam, Seblewengel M.; Hale, Andrew T.; Johnston, James M.; Jackson, Eric M.; Storm, Phillip B.; Lang, Shih-Shan; Butler, William E.; Carter, Bob S.; Chapman, Paul; Stapleton, Christopher J.; Patel, Aman B.; Rodesch, Georges; Smajda, Stanislas; Berenstein, Alejandro; Barak, Tanyeri; Erson-Omay, E. Zeynep; Zhao, Hongyu; Moreno-De-Luca, Andres; Proctor, Mark R.; Smith, Edward R.; Orbach, Darren B.; Alper, Seth L.; Nicoli, Stefania; Boggon, Titus J.; Lifton, Richard P.; Gunel, Murat; King, Philip D.; Jin, Sheng Chih; Kahle, Kristopher T. 分享 收藏
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children Ahmad, Natalie; Fazeli, Walid; Schliesske, Sophia; Lesca, Gaetan; Gokce-Samar, Zeynep; Mekbib, Kedous Y.; Jin, Sheng Chih; Burton, Jennifer; Hoganson, George; Petersen, Andrea; Gracie, Sara; Granger, Leslie; Bartels, Enrika; Oppermann, Henry; Kundishora, Adam; Till, Marianne; Milleret-Pignot, Clara; Danger, Shane; Viskochil, David; Anderson, Katherine J.; Palculict, Timothy Blake; Schnur, Rhonda E.; Wentzensen, Ingrid M.; Tiller, George E.; Kahle, Kristopher T.; Kunz, Wolfram S.; Burkart, Sebastian; Simons, Matias; Sticht, Heinrich; Abou Jamra, Rami; Neuser, Sonja 分享 收藏
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts Kundishora, Adam J.; Allington, Garrett; McGee, Stephen; Mekbib, Kedous Y.; Gainullin, Vladimir; Timberlake, Andrew T.; Nelson-Williams, Carol; Kiziltug, Emre; Smith, Hannah; Ocken, Jack; Shohfi, John; Allocco, August; Duy, Phan Q.; Elsamadicy, Aladine A.; Dong, Weilai; Zhao, Shujuan; Wang, Yung-Chun; Qureshi, Hanya M.; DiLuna, Michael L.; Mane, Shrikant; Tikhonova, Irina R.; Fu, Po-Ying; Castaldi, Christopher; Lopez-Giraldez, Francesc; Knight, James R.; Furey, Charuta G.; Carter, Bob S.; Haider, Shozeb; Moreno-De-Luca, Andres; Alper, Seth L.; Gunel, Murat; Millan, Francisca; Lifton, Richard P.; Torene, Rebecca I.; Jin, Sheng Chih; Kahle, Kristopher T. 分享 收藏
Rare pathogenic variants in WNK3 cause X-linked intellectual disability WNK3中罕见的致病变异导致X连锁智力障碍 Kury, Sebastien; Zhang, Jinwei; Besnard, Thomas; Caro-Llopis, Alfonso; Zeng, Xue; Robert, Stephanie M.; Josiah, Sunday S.; Kiziltug, Emre; Denomme-Pichon, Anne-Sophie; Cogne, Benjamin; Kundishora, Adam J.; Hao, Le T.; Li, Hong; Stevenson, Roger E.; Louie, Raymond J.; Deb, Wallid; Torti, Erin; Vignard, Virginie; McWalter, Kirsty; Raymond, F. Lucy; Rajabi, Farrah; Ranza, Emmanuelle; Grozeva, Detelina; Coury, Stephanie A.; Blanc, Xavier; Brischoux-Boucher, Elise; Keren, Boris; Ounap, Katrin; Reinson, Karit; Ilves, Pilvi; Wentzensen, Ingrid M.; Barr, Eileen E.; Guihard, Solveig Heide; Charles, Perrine; Seaby, Eleanor G.; Monaghan, Kristin G.; Rio, Marlene; van Bever, Yolande; van Slegtenhorst, Marjon; Chung, Wendy K.; Wilson, Ashley; Quinquis, Delphine; Breheret, Flora; Retterer, Kyle; Lindenbaum, Pierre; Scalais, Emmanuel; Rhodes, Lindsay; Stouffs, Katrien; Pereira, Elaine M.; Berger, Sara M.; Milla, Sarah S.; Jaykumar, Ankita B.; Cobb, Melanie H.; Panchagnula, Shreyas; Duy, Phan Q.; Vincent, Marie; Mercier, Sandra; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Audebert-Bellanger, Severine; Odent, Sylvie; Schmitt, Sebastien; Boisseau, Pierre; Bonneau, Dominique; Toutain, Annick; Colin, Estelle; Pasquier, Laurent; Redon, Richard; Bouman, Arjan; Rosenfeld, Jill A.; Friez, Michael J.; Perez-Pena, Helena; Rizvi, Syed Raza Akhtar; Haider, Shozeb; Antonarakis, Stylianos E.; Schwartz, Charles E.; Martinez, Francisco; Bezieau, Stephane; Kahle, Kristopher T.; Isidor, Bertrand 分享 收藏
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PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets DeSpenza, Tyrone, Jr.; Carlson, Marina; Panchagnula, Shreyas; Robert, Stephanie; Duy, Phan Q.; Mermin-Bunnell, Nell; Reeves, Benjamin C.; Kundishora, Adam; Elsamadicy, Aladine A.; Smith, Hannah; Ocken, Jack; Alper, Seth L.; Jin, Sheng Chih; Hoffman, Ellen J.; Kahle, Kristopher T. 分享 收藏
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Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus Jin, Sheng Chih; Dong, Weilai; Kundishora, Adam J.; Panchagnula, Shreyas; Moreno-De-Luca, Andres; Furey, Charuta G.; Allocco, August A.; Walker, Rebecca L.; Nelson-Williams, Carol; Smith, Hannah; Dunbar, Ashley; Conine, Sierra; Lu, Qiongshi; Zeng, Xue; Sierant, Michael C.; Knight, James R.; Sullivan, William; Duy, Phan Q.; DeSpenza, Tyrone; Reeves, Benjamin C.; Karimy, Jason K.; Marlier, Arnaud; Castaldi, Christopher; Tikhonova, Irina R.; Li, Boyang; Pena, Helena Perez; Broach, James R.; Kabachelor, Edith M.; Ssenyonga, Peter; Hehnly, Christine; Ge, Li; Keren, Boris; Timberlake, Andrew T.; Goto, June; Mangano, Francesco T.; Johnston, James M.; Butler, William E.; Warf, Benjamin C.; Smith, Edward R.; Schiff, Steven J.; Limbrick, David D., Jr.; Heuer, Gregory; Jackson, Eric M.; Iskandar, Bermans J.; Mane, Shrikant; Haider, Shozeb; Guclu, Bulent; Bayri, Yasar; Sahin, Yener; Duncan, Charles C.; Apuzzo, Michael L. J.; DiLuna, Michael L.; Hoffman, Ellen J.; Sestan, Nenad; Ment, Laura R.; Alper, Seth L.; Bilguvar, Kaya; Geschwind, Daniel H.; Gunel, Murat; Lifton, Richard P.; Kahle, Kristopher T. 分享 收藏
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