The 2018 Pediatric Neurology Trainee Publication Award.

Autor: Scher MS; Division of Child Neurology, Department of Pediatrics, Rainbow Babies and Children's Hospital, Case Western Reserve University, Cleveland, Ohio. Electronic address: Mark.Scher@UHhospitals.org., Breningstall G; Division of Neurology, Department of Pediatrics, Gillette Children's Specialty Healthcare, St. Paul, Minnesota., Gilbert D; Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital, University of Cincinnati, Cincinnati, Ohio., Jordan L; Division of Child Neurology, Department of Neurology, Vanderbilt University Medical Center, Vanderbilt University, Nashville, Tennessee., Khakoo Y; Department of Pediatrics, Sloan-Kettering Cancer Center, Weill Cornell Medical College, New York, New York., LePichon JB; Department of Pediatrics, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri.

Publikováno v: Pediatric neurology [Pediatr Neurol] 2019 Dec; Vol. 101, pp. 1. Date of Electronic Publication: 2019 Sep 05.

Special clinical entity with 15q26 deletion: a novel case report.

Autor: Liu, Wei-Liang¹ (AUTHOR) liuweiliang205@aliyun.com, Li, Fang² (AUTHOR), Liu, Lu² (AUTHOR), Ai, Rong¹ (AUTHOR)

Publikováno v: Journal of Genetics. Jun2024, Vol. 103 Issue 1, p1-6. 6p.

Clinical Review of Juvenile Huntington's Disease.

Autor: Oosterloo, Mayke^1,2 (AUTHOR) mayke.oosterloo@mumc.nl, Touze, Alexiane³ (AUTHOR), Byrne, Lauren M.³ (AUTHOR), Achenbach, Jannis⁴ (AUTHOR), Aksoy, Hande⁵ (AUTHOR), Coleman, Annabelle³ (AUTHOR), Lammert, Dawn⁶ (AUTHOR), Nance, Martha⁷ (AUTHOR), Nopoulos, Peggy⁸ (AUTHOR), Reilmann, Ralf^9,10 (AUTHOR), Saft, Carsten⁴ (AUTHOR), Santini, Helen¹¹ (AUTHOR), Squitieri, Ferdinando^12,13 (AUTHOR), Tabrizi, Sarah³ (AUTHOR), Burgunder, Jean-Marc¹⁴ (AUTHOR), Quarrell, Oliver^15,16 (AUTHOR)

Publikováno v: Journal of Huntington's Disease. 2024, Vol. 13 Issue 2, p149-161. 13p.

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Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

Autor: Di Donato N; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany. nataliya.didonato@uniklinikum-dresden.de., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany., Vergano S; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia., Heinritz W; Praxis für Humangenetik Cottbus, Cottbus, Germany., Bodurtha J; Medical College of Virginia, Department of Human and Molecular Genetics, Richmond, Virginia., Merchant SR; Department of Pediatric Neurology, New York Presbyterian Hospital and Weill Cornell Medical College, New York, New York., Breningstall G; Department of Pediatric Neurology, Gillette Children's Specialty Healthcare, St. Paul, Minnesota., Ladda R; Penn State Hershey Children's Hospital, Hershey, Pennsylvania., Sell S; Penn State Hershey Children's Hospital, Hershey, Pennsylvania., Altmüller J; Cologne Center for Genomics, Cologne, Germany., Bögershausen N; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington., Hackmann K; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany., Schrock E; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany., Collins S; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington., Olds C; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington., Rump A; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.; Department of Pediatrics, University of Washington, Seattle, Washington.; Department of Neurology, University of Washington, Seattle, Washington.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Oct; Vol. 170 (10), pp. 2644-51. Date of Electronic Publication: 2016 May 30.