Results 221 to 230 of about 128,632 (290)

Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder. [PDF]

Nat Genet
Greene D, Mendez R, Lees J, Barbosa M, Bruselles A, Chiriatti L, Ferraro F, Mancini C, Schot R, Sleutels F, Bertini E, Bonner DE, Bouman A, Brooks AS, Cassini THA, Ezell KM, Gomez-Ospina N, Kleefstra T, O'Donoghue M, Rives L, Shashi V, Spillmann RC, Wafik M, Undiagnosed Diseases Network, Freson K, Barakat TS, Tartaglia M, Bernstein JA, Mumford AD, Wheeler MT, Turro E.   +30 more
europepmc   +1 more source

Communication of Business‐Nonprofit Collaborations and Environmental Legitimacy: Exploratory Insights From Italian Firms

Business Strategy and the Environment, EarlyView.
ABSTRACT Collaborations with nonprofits can enhance firms' legitimacy, yet the relationship between their communication and corporate environmental legitimacy remains poorly understood. Furthermore, research lacks an analysis of the communication of business‐nonprofit collaborations through multiple actors' perspectives.
Andrea Rizzuni, Daniel Lundgaard, Maria Alejandra Torres‐Cuello, Steen Vallentin   +3 more
wiley   +1 more source

Neurodevelopmental Disorder and Cortical Myoclonus in ZMYM2 Deficiency. [PDF]

Mov Disord
Pollini L, Novelli M, Travaglini L, Panvino F, Leuzzi V, Pisani F, Galosi S.   +6 more
europepmc   +1 more source

Differences in Immediate and Delayed Suggestibility Among Children With Dyslexia and Controls

Behavioral Sciences &the Law, EarlyView.
ABSTRACT The primary aim of this study was to investigate the relationship between dyslexia and suggestibility in children, and the extent to which this relationship is accounted for by performance on Word Tasks. Participants comprised 95 children with dyslexia and 109 controls.
Gisli Gudjonsson, Valeria Giostra, Monia Vagni   +2 more
wiley   +1 more source

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder. [PDF]

Am J Hum Genet
Anderson EN, Drukewitz S, Kour S, Chimata AV, Rajan DS, Schönnagel S, Stals KL, Donnelly D, O'Sullivan S, Mantovani JF, Tan TY, Stark Z, Zacher P, Chatron N, Monin P, Drunat S, Vial Y, Latypova X, Levy J, Verloes A, Carter JN, Bonner DE, Shankar SP, Bernstein JA, Cohen JS, Comi A, Carere DA, Dyer LM, Mullegama SV, Sanchez-Lara PA, Grand K, Kim HG, Ben-Mahmoud A, Gospe SM, Belles RS, Bellus G, Lichtenbelt KD, Oegema R, Rauch A, Ivanovski I, Mau-Them FT, Garde A, Rabin R, Pappas J, Bley AE, Bredow J, Wagner T, Decker E, Bergmann C, Domenach L, Margot H, Undiagnosed Diseases Network, Lemke JR, Abou Jamra R, Hentschel J, Mefford H, Singh A, Pandey UB, Platzer K.   +58 more
europepmc   +1 more source

Visualizing Specific Tubulin Isotypes and Pathogenic Variants in Cellular Microtubule Arrays

Cytoskeleton, EarlyView.
ABSTRACT Eukaryotic cells depend on dynamic microtubule arrays to execute a wide range of functions vital for life. These microtubule filaments are formed through the polymerization of α/β‐tubulin proteins, which can be generated from numerous tubulin genes, or isotypes.
Sareen Fiaz, Benjamin Powers, Jayne Aiken   +2 more
wiley   +1 more source

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder. [PDF]

Brain
Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell PD, Millard J, Lee R, Cohen A, Ahmad R, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Hove HB, Mancini GMS, Schot R, Barakat TS, Richmond CM, Lauzon J, Ibrahim AIE, Nava C, Héron D, van Aalst MMA, Atemin S, Sleptsova M, Aleksandrova I, Todorova A, Watkins DL, Kozenko MA, Natera-de Benito D, Ortez C, Estevez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G, Korb E.   +53 more
europepmc   +1 more source