Zobrazeno 1 - 10
of 1 781
pro vyhledávání: '"Grunseich, C"'
Autor:
Wan M; Epigenetics and Stem Cell Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA., Liu Y; Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA., Li D; Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA., Snyder RJ; Epigenetics and Stem Cell Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA., Elkin LB; Epigenetics and Stem Cell Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA., Day CR; Epigenetics and Stem Cell Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA., Rodriguez J; Epigenetics and Stem Cell Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA., Grunseich C; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA., Mahley RW; Gladstone Institute of Neurological Disease, San Francisco, CA, USA.; Department of Pathology and Medicine, University of California, San Francisco, CA, USA., Watts JA; Epigenetics and Stem Cell Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA., Cheung VG; Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA.
Publikováno v:
Nucleic acids research [Nucleic Acids Res] 2024 Sep 23; Vol. 52 (17), pp. 10235-10254.
Autor:
Diarra S; Université des Sciences, des Techniques, et des Technologies de Bamako (USTTB), Bamako, Mali; Neurogenetics Branch, NINDS, NIH, Bethesda, MD, United States; Yale University, Pediatric Genomics Discovery Program, Department of Pediatrics, New Haven, CT, United States., Ghosh S; Neurosciences and Cellular and Structural Biology Division, NICHD, NIH, Bethesda, MD, United States., Cissé L; Service de Neurologie, CHU du Point 'G', Bamako, Mali., Coulibaly T; Université des Sciences, des Techniques, et des Technologies de Bamako (USTTB), Bamako, Mali; Neurosciences and Cellular and Structural Biology Division, NICHD, NIH, Bethesda, MD, United States., Yalcouyé A; Université des Sciences, des Techniques, et des Technologies de Bamako (USTTB), Bamako, Mali; Division of Human Genetics, Department of Pathology, University of Cape Town, Cape Town, South Africa., Harmison G; Neurogenetics Branch, NINDS, NIH, Bethesda, MD, United States., Diallo S; Service de Neurologie, CHU du Gabriel Touré, Bamako, Mali., Diallo SH; Service de Neurologie, CHU du Gabriel Touré, Bamako, Mali., Coulibaly O; Service de Chirurgie Pédiatrique, CHU du Gabriel Touré, Bamako, Mali., Schindler A; Neurogenetics Branch, NINDS, NIH, Bethesda, MD, United States., Cissé CAK; Université des Sciences, des Techniques, et des Technologies de Bamako (USTTB), Bamako, Mali., Maiga AB; Université des Sciences, des Techniques, et des Technologies de Bamako (USTTB), Bamako, Mali; Service de Neurologie, CHU du Point 'G', Bamako, Mali., Bamba S; Université des Sciences, des Techniques, et des Technologies de Bamako (USTTB), Bamako, Mali., Samassekou O; Université des Sciences, des Techniques, et des Technologies de Bamako (USTTB), Bamako, Mali., Khokha MK; Yale University, Pediatric Genomics Discovery Program, Department of Pediatrics, New Haven, CT, United States., Mis EK; Yale University, Pediatric Genomics Discovery Program, Department of Pediatrics, New Haven, CT, United States., Lakhani SA; Yale University, Pediatric Genomics Discovery Program, Department of Pediatrics, New Haven, CT, United States., Donovan FX; Cancer Genetics and Comparative Genomics Branch, NHGRI, NIH, Bethesda, MD, United States., Jacobson S; Neuroimmunology Division, NINDS, NIH, Bethesda, MD, United States., Blackstone C; Movement Disorders Division, Department of Neurology, Harvard Medicine School, Massachusetts General Hospital, Boston, MA, United States., Guinto CO; Université des Sciences, des Techniques, et des Technologies de Bamako (USTTB), Bamako, Mali; Service de Neurologie, CHU du Point 'G', Bamako, Mali., Landouré G; Université des Sciences, des Techniques, et des Technologies de Bamako (USTTB), Bamako, Mali; Neurogenetics Branch, NINDS, NIH, Bethesda, MD, United States; Service de Neurologie, CHU du Point 'G', Bamako, Mali., Bonifacino JS; Neurosciences and Cellular and Structural Biology Division, NICHD, NIH, Bethesda, MD, United States., Fischbeck KH; Neurogenetics Branch, NINDS, NIH, Bethesda, MD, United States., Grunseich C; Neurogenetics Branch, NINDS, NIH, Bethesda, MD, United States. Electronic address: Christopher.grunseich@nih.gov.
Publikováno v:
Neurobiology of disease [Neurobiol Dis] 2024 Aug; Vol. 198, pp. 106537. Date of Electronic Publication: 2024 May 19.
Autor:
Maio N; Molecular Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA., Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, Maryland, USA., Zaharieva IT; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, Maryland, USA., Munot P; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Mueller J; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Willis T; Wolfson Centre for Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, United Kingdom.; Chester University Medical School, Chester, United Kingdom., Verma S; Department of Pediatrics and Neurology, Emory University School of Medicine, Georgia, Atlanta, USA., Peric S; Department for Neuromuscular Disorders, Neurology Clinic, University Clinical Centre of Serbia, Faculty of Medicine, University of Belgrade, Belgrade, Serbia., Krishnakumar D; Paediatric Neurology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Sudhakar S; Department of Neuroradiology, Great Ormond Street NHS Trust Hospital, London, United Kingdom., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, Maryland, USA., Silverstein S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, Maryland, USA., Douglas G; GeneDx, LLC, Gaithersburg, Maryland, USA., Pais L; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., DiTroia S; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Grunseich C; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, Maryland, USA., Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, Maryland, USA., Sewry C; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Wolfson Centre for Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, United Kingdom., Sarkozy A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom., Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Rouault TA; Molecular Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, Maryland, USA.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2024 Jun 17; Vol. 134 (12). Date of Electronic Publication: 2024 Jun 17.
Autor:
Tebbenkamp AT; Nido Biosciences, Inc., Boston, Massachusetts, USA., Huggett SB; Nido Biosciences, Inc., Boston, Massachusetts, USA., Lombardi V; University College London (UCL), London, United Kingdom., Zampedri L; University College London (UCL), London, United Kingdom., AlQahtani A; Neurogenetics Branch, National Institute of Neurological Disease and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Kokkinis A; Neurogenetics Branch, National Institute of Neurological Disease and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Malaspina A; University College London (UCL), London, United Kingdom., Rinaldi C; Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, United Kingdom., Grunseich C; Neurogenetics Branch, National Institute of Neurological Disease and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Fratta P; University College London (UCL), London, United Kingdom., Viglietta V; Nido Biosciences, Inc., Boston, Massachusetts, USA.
Publikováno v:
JCI insight [JCI Insight] 2024 May 30; Vol. 9 (13). Date of Electronic Publication: 2024 May 30.
Autor:
Shahim P; Rehabilitation Medicine Department, National Institutes of Health (NIH) Clinical Center, Bethesda, MD 20892, USA.; National Institutes of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Department of Neurology, MedStar Georgetown University Hospital, Washington, DC 20007, USA.; The Military Traumatic Brain Injury Initiative (MTBI2), Bethesda, MD 20814, USA.; The Henry M. Jackson Foundation for the Advancement of Military Medicine, Bethesda, MD 20817, USA., Norato G; National Institutes of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Sinaii N; Biostatistics and Clinical Epidemiology Service, NIH, Bethesda, MD 20892, USA., Zetterberg H; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, 431 41 Molndal, Sweden.; Clinical Neurochemistry Laboratory, Sahglrenska University Hospital, 431 41 Molndal, Sweden.; Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.; UK Dementia Research Institute at UCL, London WC1E 6BT, UK.; Hong Kong Center for Neurodegenerative Diseases, Clear Water Bay, Hong Kong 518172, China.; Wisconsin Alzheimer's Disease Research Center, University of Wisconsin School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53792, USA., Blennow K; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, 431 41 Molndal, Sweden.; Clinical Neurochemistry Laboratory, Sahglrenska University Hospital, 431 41 Molndal, Sweden., Chan L; Rehabilitation Medicine Department, National Institutes of Health (NIH) Clinical Center, Bethesda, MD 20892, USA., Grunseich C; National Institutes of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Publikováno v:
Genes [Genes (Basel)] 2024 Apr 16; Vol. 15 (4). Date of Electronic Publication: 2024 Apr 16.
Autor:
Todd JJ; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20814, USA.; National Institute of Nursing Research, National Institutes of Health, Bethesda, MD 20814, USA.; Clinical Trials Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA., Lawal TA; National Institute of Nursing Research, National Institutes of Health, Bethesda, MD 20814, USA., Chrismer IC; National Institute of Nursing Research, National Institutes of Health, Bethesda, MD 20814, USA., Kokkinis A; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20814, USA., Grunseich C; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20814, USA., Jain MS; Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department, National Institutes of Health, Bethesda, MD 20814, USA., Waite MR; Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department, National Institutes of Health, Bethesda, MD 20814, USA., Biancavilla V; Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department, National Institutes of Health, Bethesda, MD 20814, USA., Pocock S; National Institute of Nursing Research, National Institutes of Health, Bethesda, MD 20814, USA., Brooks K; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20814, USA.; Clinical Trials Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA., Mendoza CJ; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20814, USA., Norato G; Clinical Trials Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA., Cheung K; Mailman School of Public Health, Columbia University, NY 10032, USA., Riekhof W; National Institute of Nursing Research, National Institutes of Health, Bethesda, MD 20814, USA., Varma P; National Institute of Nursing Research, National Institutes of Health, Bethesda, MD 20814, USA., Colina-Prisco C; Section of Sensory Science and Metabolism, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Bethesda, MD 20814, USA., Emile-Backer M; National Institute of Nursing Research, National Institutes of Health, Bethesda, MD 20814, USA., Meilleur KG; National Institute of Nursing Research, National Institutes of Health, Bethesda, MD 20814, USA., Marks AR; Department of Physiology and Cellular Biophysics, Columbia University Vagelos College of Physicians and Surgeons, New York, NY 10032, USA., Webb Y; ARMGO Pharma, Inc, Ardsley, NY 10591, USA., Marcantonio EE; ARMGO Pharma, Inc, Ardsley, NY 10591, USA., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20814, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20814, USA., Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20814, USA.
Publikováno v:
EClinicalMedicine [EClinicalMedicine] 2024 Jan 25; Vol. 68, pp. 102433. Date of Electronic Publication: 2024 Jan 25 (Print Publication: 2024).
Autor:
Maio N, Orbach R, Zaharieva I, Töpf A, Donkervoort S, Munot P, Mueller J, Willis T, Verma S, Peric S, Krishnakumar D, Sudhakar S, Foley AR, Silverstein S, Douglas G, Pais L, DiTroia S, Grunseich C, Hu Y, Sewry C, Sarkozy A, Straub V, Muntoni F, Rouault T, Bönnemann CG
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2023 Dec 20. Date of Electronic Publication: 2023 Dec 20.
Autor:
Alqahtani A; Neurogenetics Branch (AA, AK, KHF, CG), National Institute of Neurological Disorders and Stroke, Bethesda, MD; and Department of Neurology (CZ, ND, CRH), University of Rochester, NY., Kokkinis A; Neurogenetics Branch (AA, AK, KHF, CG), National Institute of Neurological Disorders and Stroke, Bethesda, MD; and Department of Neurology (CZ, ND, CRH), University of Rochester, NY., Zizzi C; Neurogenetics Branch (AA, AK, KHF, CG), National Institute of Neurological Disorders and Stroke, Bethesda, MD; and Department of Neurology (CZ, ND, CRH), University of Rochester, NY., Dilek N; Neurogenetics Branch (AA, AK, KHF, CG), National Institute of Neurological Disorders and Stroke, Bethesda, MD; and Department of Neurology (CZ, ND, CRH), University of Rochester, NY., Fischbeck KH; Neurogenetics Branch (AA, AK, KHF, CG), National Institute of Neurological Disorders and Stroke, Bethesda, MD; and Department of Neurology (CZ, ND, CRH), University of Rochester, NY., Heatwole CR; Neurogenetics Branch (AA, AK, KHF, CG), National Institute of Neurological Disorders and Stroke, Bethesda, MD; and Department of Neurology (CZ, ND, CRH), University of Rochester, NY., Grunseich C; Neurogenetics Branch (AA, AK, KHF, CG), National Institute of Neurological Disorders and Stroke, Bethesda, MD; and Department of Neurology (CZ, ND, CRH), University of Rochester, NY.
Publikováno v:
Neurology. Clinical practice [Neurol Clin Pract] 2023 Dec; Vol. 13 (6), pp. e200213. Date of Electronic Publication: 2023 Oct 31.
Autor:
Dembélé, M E, Cissé, L, Diarra, S, Yalcouyé, A, Taméga, A, Bocoum, A, Maïga, A B, Diallo, S H, Coulibaly, T, Diallo, S, Simaga, A, Grunseich, C, Kéita, M, Coulibaly, MB, Fischbeck, KH, Maiga, Y, Guinto, C O, Landouré, G
Publikováno v:
Mali Med
BACKGROUND: Progressive Myoclonic Epilepsy (PME) is a heterogeneous group of pathologies associating epileptic seizures and other neurological and non-neurological disorders. OBJECTIVES: We aim to characterize patients with symptoms of PME and identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::395a850ca501c7f905877525b5259ead
https://europepmc.org/articles/PMC10026847/
https://europepmc.org/articles/PMC10026847/
Autor:
Morales-Rosado JA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Quantitative Health Sciences, Division of Computational Biology, Mayo Clinic, Rochester, MN, USA., Schwab TL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MM, USA., Macklin-Mantia SK; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics at Mayo Clinic, Jacksonville, FL, USA., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Pinto E Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA; Division of Neurology and Developmental Neuroscience and Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA; Baylor Genetics Laboratories, Houston, TX, USA., Boyum GE; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MM, USA., Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Cong ATQ; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MM, USA., Lotze TE; Division of Neurology and Developmental Neuroscience and Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Mohila CA; Department of Pathology & Immunology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA., Saade D; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Bharucha-Goebel D; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA; Division of Neurology, Children's National Hospital, Washington, DC, USA., Chao KR; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Grunseich C; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Bruels CC; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA., Littel HR; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA., Estrella EA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Pais L; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Kang PB; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA; Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN, USA., Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA., Schellenberg MJ; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MM, USA., Clark KJ; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MM, USA., Wierenga KJ; Department of Clinical Genomics at Mayo Clinic, Jacksonville, FL, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Quantitative Health Sciences, Division of Computational Biology, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. Electronic address: klee.eric@mayo.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2023 Jun 01; Vol. 110 (6), pp. 989-997. Date of Electronic Publication: 2023 May 10.