未登录 分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
Neuroimaging Features of Biotinidase Deficiency Biswas, A.; McNamara, C.; Gowda, V. K.; Gala, F.; Sudhakar, S.; Sidpra, J.; Vari, M. S.; Striano, P.; Blaser, S.; Severino, M.; Batzios, S.; Mankad, K. 分享 收藏
分享 收藏
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder Szot, Justin O.; Slavotinek, Anne; Chong, Karen; Brandau, Oliver; Nezarati, Marjan; Cueto-Gonzalez, Anna M.; Patel, Millan S.; Devine, Walter P.; Rego, Shannon; Acyinena, Alicia P.; Shannon, Patrick; Myles-Reid, Diane; Blaser, Susan; Mieghem, Tim V.; Yavuz-Kienle, Halenur; Skladny, Heyko; Miller, Kristen; Riera, Miereia D. T.; Martinez, Silvia A.; Tizzano, Eduardo F.; Dupuis, Lucie; James Stavropoulos, Dimitri; McNiven, Vanda; Mendoza-Londono, Roberto; Elliott, Alison M.; Phillips, Robert S.; Chapman, Gavin; Dunwoodie, Sally L. 分享 收藏
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation van der Welle, Reini E. N.; Jobling, Rebekah; Burns, Christian; Sanza, Paolo; van der Beek, Jan A.; Fasano, Alfonso; Chen, Lan; Zwartkruis, Fried J.; Zwakenberg, Susan; Griffin, Edward F.; ten Brink, Corlinda; Veenendaal, Tineke; Liv, Nalan; van Ravenswaaij-Arts, Conny M. A.; Lemmink, Henny H.; Pfundt, Rolph; Blaser, Susan; Sepulveda, Carolina; Lozano, Andres M.; Yoon, Grace; Santiago-Sim, Teresa; Asensio, Cedric S.; Caldwell, Guy A.; Caldwell, Kim A.; Chitayat, David; Klumperman, Judith 分享 收藏
分享 收藏
分享 收藏
Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders Talenti, G.; Robson, C.; Severino, M. S.; Alves, C. A.; Chitayat, D.; Dahmoush, H.; Smith, L.; Muntoni, F.; Blaser, S. I.; D'Arco, F. 分享 收藏
Long-term postnatal outcome of fetuses with prenatally suspected septo-optic dysplasia Shinar, S.; Blaser, S.; Chitayat, D.; Selvanathan, T.; Chau, V.; Shannon, P.; Agrawal, S.; Ryan, G.; Pruthi, V.; Miller, S. P.; Krishnan, P.; Van Mieghem, T. 分享 收藏
分享 收藏
Brain Injury in Infants with Critical Congenital Heart Disease: Insights from Two Clinical Cohorts with Different Practice Approaches Claessens, Nathalie H. P.; Chau, Vann; de Vries, Linda S.; Jansen, Nicolaas J. G.; Au-Young, Stephanie H.; Stegeman, Raymond; Blaser, Susan; Shroff, Manohar; Haas, Felix; Marini, Davide; Breur, Johannes M. P. J.; Seed, Mike; Benders, Manon J. N. L.; Miller, Steven P. 分享 收藏
分享 收藏
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders Mitani, Tadahiro; Punetha, Jaya; Akalin, Ibrahim; Pehlivan, Davut; Dawidziuk, Mateusz; Akdemir, Zeynep Coban; Yilmaz, Sarenur; Aslan, Ezgi; Hunter, Jill V.; Hijazi, Hadia; Grochowski, Christopher M.; Jhangiani, Shalini N.; Karaca, Ender; Fatih, Jawid M.; Iwanowski, Piotr; Gambin, Tomasz; Wlasienko, Pawel; Goszczanska-Ciuchta, Alicja; Bekiesinska-Figatowska, Monika; Hosseini, Masoumeh; Arzhangi, Sanaz; Najmabadi, Hossein; Rosenfeld, Jill A.; Du, Haowei; Marafi, Dana; Blaser, Susan; Teitelbaum, Ronni; Silver, Rachel; Posey, Jennifer E.; Ropers, Hans-Hilger; Gibbs, Richard A.; Wiszniewski, Wojciech; Lupski, James R.; Chitayat, David; Kahrizi, Kimia; Gawlinski, Pawel 分享 收藏
Associations Between Age at Arterial Switch Operation, Brain Growth, and Development in Infants With Transposition of the Great Arteries Lim, Jessie Mei; Porayette, Prashob; Marini, Davide; Chau, Vann; Au-Young, Stephanie H.; Saini, Amandeep; Ly, Linh G.; Blaser, Susan; Shroff, Manohar; Branson, Helen M.; Sananes, Renee; Hickey, Edward J.; Gaynor, J. William; Van Arsdell, Glen; Miller, Steven P.; Seed, Mike 分享 收藏
ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration ATP6AP2变体损害CNS发育和神经元存活,导致暴发性神经变性 Hirose, Takuo; Cabrera-Socorro, Alfredo; Chitayat, David; Lemonnier, Thomas; Feraud, Olivier; Cifuentes-Diaz, Carmen; Gervasi, Nicolas; Mombereau, Cedric; Ghosh, Tanay; Stoica, Loredana; Al Bacha, Jeanne d'Arc; Yamada, Hiroshi; Lauterbach, Marcel A.; Guillon, Marc; Kaneko, Kiriko; Norris, Joy W.; Siriwardena, Komudi; Blaser, Susan; Teillon, Jeremie; Mendoza-Londono, Roberto; Russeau, Marion; Hadoux, Julien; Ito, Sadayoshi; Corvol, Pierre; Matheus, Maria G.; Holden, Kenton R.; Takei, Kohji; Emiliani, Valentina; Bennaceur-Griscelli, Annelise; Schwartz, Charles E.; Nguyen, Genevieve; Groszer, Matthias 分享 收藏
分享 收藏