Resultados de procura - Saleem Malik
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1
Magnetic resonance imaging–guided laser interstitial thermal therapy as treatment for intractable insular epilepsy in children por Μ. Scott Perry, David J. Donahue, Saleem Malik, Cynthia Keator, Angel Hernandez, Rohit K. Reddy, Freedom F. Perkins, Mark R. Lee, Dave Clarke
Publicado 2017Artigo -
2
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features por Hallie Steinfeld, Megan T. Cho, Kyle Retterer, Rick Person, G. Bradley Schaefer, Noelle R. Danylchuk, Saleem Malik, Stephanie Burns Wechsler, Patricia G. Wheeler, Koen L.I. van Gassen, Paulien A. Terhal, Virginie J. M. Verhoeven, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Lindsay B. Henderson, Wendy K. Chung
Publicado 2016Artigo -
3
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders por Sara Reynhout, Sandra Jansen, Dorien Haesen, Siska Van Belle, Sonja A. de Munnik, Ernie M.H.F. Bongers, Jolanda Schieving, Carlo Marcelis, Jeanne Amiel, Marlène Rio, Heather M. McLaughlin, Roger L. Ladda, Susan L. Sell, Marjolein Kriek, Cacha Peeters‐Scholte, Paulien A. Terhal, Koen L.I. van Gassen, Nienke E. Verbeek, Sonja Henry, Jessica Scott Schwoerer, Saleem Malik, Nicole Revençu, Carlos R. Ferreira, Ellen F. Macnamara, Hilde M. H. Braakman, Elise Brimble, Maura Ruzhnikov, Matias Wagner, Philip Harrer, Dagmar Wieczorek, Alma Kuechler, Barak Tziperman, Ortal Barel, Bert B.A. de Vries, Christopher T. Gordon, Veerle Janssens, Lisenka E.L.M. Vissers
Publicado 2018Artigo
Ferramentas de procura:
Materias Relacionadas
Biology
Gene
Genetics
Haploinsufficiency
Mutation
Phenotype
Adverse effect
Archaeology
Autism
Cohort
Developmental disorder
Developmental psychology
Enhancer
Epilepsy
Epilepsy surgery
Exome
Exome sequencing
Frameshift mutation
Global developmental delay
History
Human genetics
Insula
Intellectual disability
Internal medicine
Intractable epilepsy
Intractable pain
Magnetic resonance imaging
Medicine
Missense mutation
Neurodevelopmental disorder