Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Nomakuchi TT"'
Autor:
Nomakuchi TT; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Teferedegn EY; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Li D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Muirhead KJ; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Dubbs H; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Leonard J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Muraresku C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Sergio E; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Arnold K; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Pizzino A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Wang K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Ganetzky RD; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Vanderver AL; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Ahrens-Nicklas RC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Bhoj EJK; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Dec; Vol. 194 (12), pp. e63817. Date of Electronic Publication: 2024 Jul 19.
Autor:
Clark KJ; Biomedical Graduate School, University of Pennsylvania, Perelman School of Medicine.; Children's Hospital of Philadelphia., Lubin EE; Biomedical Graduate School, University of Pennsylvania, Perelman School of Medicine.; Children's Hospital of Philadelphia., Gonzalez EM; Biomedical Graduate School, University of Pennsylvania, Perelman School of Medicine.; Children's Hospital of Philadelphia., Sangree AK; Biomedical Graduate School, University of Pennsylvania, Perelman School of Medicine.; Children's Hospital of Philadelphia., Layo-Carris DE; Children's Hospital of Philadelphia., Durham EL; Children's Hospital of Philadelphia., Ahrens-Nicklas RC; Children's Hospital of Philadelphia.; Department of Pediatrics, University of Pennsylvania, Perelman School of Medicine., Nomakuchi TT; Children's Hospital of Philadelphia., Bhoj EJ; Children's Hospital of Philadelphia.; Department of Pediatrics, University of Pennsylvania, Perelman School of Medicine.
Publikováno v:
BioRxiv : the preprint server for biology [bioRxiv] 2024 Feb 04. Date of Electronic Publication: 2024 Feb 04.
Autor:
Nomakuchi TT; Division of Human Genetics, Children's Hospital of Philadelphia, Pennsylvania, United States., Alves CAP; Division of Neuroradiology, Children's Hospital of Philadelphia, Pennsylvania, United States., Beslow LA; Division of Neurology, Children's Hospital of Philadelphia, Pennsylvania, United States.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, United States.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, United States., Zarnow D; Division of Neuroradiology, Children's Hospital of Philadelphia, Pennsylvania, United States.; Department of Radiology Perelman School of Medicine, University of Pennsylvania, Pennsylvania, United States., Goyal N; Department of Pediatrics, Nemours Children's Health and Sidney Kimmel College of Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Pennsylvania, United States.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, United States., Reynoso Santos FJ; Division of Human Genetics, Children's Hospital of Philadelphia, Pennsylvania, United States.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, United States.
Publikováno v:
Neuropediatrics [Neuropediatrics] 2024 Feb; Vol. 55 (1), pp. 71-74. Date of Electronic Publication: 2023 Mar 13.
Autor:
Safonov A, Nomakuchi TT, Chao E, Horton C, Dolinsky JS, Yussuf A, Richardson M, Speare V, Li S, Bogus ZC, Bonanni M, Raper A, Kallish S, Ritchie MD, Nathanson KL, Drivas TG
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2023 Aug 10. Date of Electronic Publication: 2023 Aug 10.
Autor:
Nomakuchi TT; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Danowitz M; Division of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, USA., Stewart B; Human Genetics Unit, University of Edinburgh, Edinburgh, Scotland, United Kingdom., Leonard J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Izumi K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Krantz I; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Kolon TF; Division of Urology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Langdon D; Division of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, USA., Skraban C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Van Batavia J; Division of Urology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Jiao K; Center for Biotechnology & Genomic Medicine, Medical College of Georgia at Augusta University, Augusta, GA, USA., Linn R; Division of Pathology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Alexander C; Division of Pathology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Zaontz M; Division of Urology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Vogiatzi MG; Division of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, USA., Pyle LC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Rare Disease Institute and Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA.; Department of Genomics and Precision Medicine, George Washington University, Washington, DC, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 May; Vol. 191 (5), pp. 1418-1424. Date of Electronic Publication: 2023 Feb 16.
Autor:
Wild KT; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Neonatology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Nomakuchi TT; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Sheppard SE; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Leavens KF; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., De León DD; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Apr; Vol. 185 (4), pp. 1251-1255. Date of Electronic Publication: 2021 Jan 14.
Autor:
Aznarez I; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA., Nomakuchi TT; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA., Tetenbaum-Novatt J; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA., Rahman MA; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA., Fregoso O; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA., Rees H; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA., Krainer AR; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA. Electronic address: krainer@cshl.edu.
Publikováno v:
Cell reports [Cell Rep] 2018 May 15; Vol. 23 (7), pp. 2186-2198.
Autor:
Nomakuchi TT; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA.; Stony Brook University School of Medicine, Stony Brook, New York, USA., Rigo F; Isis Pharmaceuticals, Carslbad, California, USA., Aznarez I; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA., Krainer AR; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA.
Publikováno v:
Nature biotechnology [Nat Biotechnol] 2016 Feb; Vol. 34 (2), pp. 164-6. Date of Electronic Publication: 2015 Dec 14.