Results 161 to 170 of about 11,674 (220)

SaVeBRAIN.Kids-study protocol for a cluster-randomized stepped-wedge trial to reduce hospitalizations for mild traumatic brain injury in children in Germany. [PDF]

Trials
Bruns N, Brensing P, von der Heiden L, Dohna-Schwake C, Schwarz S, Wagner J, Huessler EM, Nonnemacher M, Neumann A, Valbert F, Neusser S, Peter R, Reinel D, Scheidt J, Siebenhaar Y, Drescher J, Wogenstein F, Hoerster L, Schoppen B, Abdin AE, Marx S, May P, Hüsing A, Stang A, Heinen F, Bonfert M.   +25 more
europepmc   +1 more source

Clinical and genetic diagnostic challenges in presumed hereditary ataxia. [PDF]

J Neurol
Faust H, Duffek P, Drukewitz S, Gburek-Augustat J, Baum P, Bergner CC, Syrbe S, Schröter J, Jamra RA, Popp D.   +9 more
europepmc   +1 more source

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes. [PDF]

Nat Genet
Rius R, Blakes AJM, Chen Y, De Jonghe J, Lecoquierre F, Dawes R, Cogne B, Kim HC, Alvi JR, Amblard F, Ansari M, Arlt A, Austin-Tse C, Baer S, Balasubramanian M, Balton EV, Barcia G, Beleza-Meireles A, Bernstein JA, Beygo J, Blanc P, Bramswig NC, Braun F, Buchzik D, Calame DG, Campbell J, Coutton C, Cunningham CA, Dargie N, Depienne C, Dipple KM, Dieux A, Dixit A, Dreyer L, Du H, El Chehadeh S, Field M, Ewans LJ, Geiger V, Gibbs RA, Glass I, Grunewald O, Gueguen P, Haack TB, Hadj Abdallah H, Harbuz R, Helbig I, Horvath J, Hustinx A, Isidor B, Jacquemont ML, Jamie F, Jeanne M, Kessler R, Klinkhammer H, Korenke GC, Kotzaeridou U, Krawitz P, Laurie S, Leventer RJ, Levy RJ, Lupski JR, Marijon P, McGinnis KE, Mendez R, Messaoud O, Nava C, Nizard M, O'Donnell-Luria A, O'Leary MC, Olivieri S, Parida A, Pehlivan D, Prentice AJ, Posey JE, Reuter CM, Satre V, Schluth-Bolard C, Smol T, Sultan T, Taylor J, Thauvin-Robinetvin C, Thevenon J, Uebergang E, Ueberberg S, Vincent-Delorme C, Wassmer E, Westwood E, Wheeler MT, Gulec EY, Vanderver A, Vossough A, Sanders SJ, Banka S, Findlay GM, MacArthur DG, Simons C, Whiffin N.   +97 more
europepmc   +1 more source

Pleura-ABCDE - a structured expert-based protocol for neonatal lung ultrasound documentation and interpretation. [PDF]

Ultrasound J
Sandig J, Küng E, Aichhorn L, Schwaberger B, Klemme M, Wagner N, Bührer C, Sternal F.   +7 more
europepmc   +1 more source

Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic. [PDF]

Neuropediatrics
Veronese A, Osredkar D, Lovrečić L, Troha Gergeli A.   +3 more
europepmc   +1 more source

Case Report: Heterozygous <i>ADAR</i> c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family. [PDF]

Front Immunol
Bauer AK, Marquardt I, Sundermann B, Wolf C, Raupach K, Grundmann-Hauser K, Gieldon L, Otterbach M, Maurer M, Haack T, Lee-Kirsch MA, Korenke GC, Hitz MP.   +12 more
europepmc   +1 more source

Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study. [PDF]

Lancet Reg Health Eur
Weiß C, Becker LL, Friese J, Blaschek A, Hahn A, Illsinger S, Schwartz O, Bernert G, Hagen MV, Husain RA, Goldhahn K, Kirschner J, Pechmann A, Flotats-Bastardas M, Schreiber G, Schara U, Plecko B, Trollmann R, Horber V, Wilichowski E, Baumann M, Klein A, Eisenkölbl A, Köhler C, Stettner GM, Cirak S, Hasselmann O, Kaindl AM, Garbade SF, Johannsen J, Ziegler A, SMArtCARE and Swiss-Reg-NMD study group.   +31 more
europepmc   +1 more source

Prenatal Diagnosis of MSL2-Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication. [PDF]

Clin Genet
Zgheib O, Rio Frio T, Pellegrinelli JM, Gimelli S, Marconi C, Le Mercier D, Rebollo Polo M, Habre C, Fluss J, Ha-Vinh Leuchter R, Abramowicz M, Giannini R, Fokstuen S.   +12 more
europepmc   +1 more source