Erratum to Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome [Am J Med Genet Part A, 161A, (2014) 1638-1646]

Autor: Chapleau, CA, Lane, J, Kirwin, S, Schanen, C, Vinette, KMB, Stubbolo, D, Macleod, P, Glaze, DG, Motil, KJ, Neul, JL, Skinner, SA, Kaufmann, WE, Percy, AK

Publikováno v: Chapleau, CA; Lane, J; Kirwin, S; Schanen, C; Vinette, KMB; Stubbolo, D; et al.(2014). Erratum to Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome [Am J Med Genet Part A, 161A, (2014) 1638-1646]. American Journal of Medical Genetics, Part A, 164(5), 1346. doi: 10.1002/ajmg.a.36493. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/0353f9xc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::8b354be189d8c9e355365593edd4a184
http://www.escholarship.org/uc/item/0353f9xc

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Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.

Autor: Lenherr-Taube N; Department of Pediatrics, Division of Endocrinology, The Hospital for Sick Children, University of Toronto, M5G 1X8 Toronto, Ontario, Canada., Young EJ; Genome Diagnostics, Department of Paediatric Medicine, The Hospital for Sick Children, M5G 1X8 Toronto, Ontario, Canada., Furman M; Department of Pediatrics, Division of Endocrinology, The Hospital for Sick Children, University of Toronto, M5G 1X8 Toronto, Ontario, Canada., Elia Y; Department of Pediatrics, Division of Endocrinology, The Hospital for Sick Children, University of Toronto, M5G 1X8 Toronto, Ontario, Canada., Assor E; Department of Pediatrics, Division of Endocrinology, The Hospital for Sick Children, University of Toronto, M5G 1X8 Toronto, Ontario, Canada., Chitayat D; Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, M5G 1X8 Toronto, Ontario, Canada.; Department of Pediatrics, Division of Clinical Genetics and Metabolism, The Hospital for Sick Children, University of Toronto, M5G 1X8 Toronto, Ontario, Canada., Uster T; Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, M5G 1X8 Toronto, Ontario, Canada., Kirwin S; Nemours Molecular Diagnostics Laboratory, Nemours Children's Health System, Wilmington, Delaware 19802, USA., Robbins K; Nemours Molecular Diagnostics Laboratory, Nemours Children's Health System, Wilmington, Delaware 19802, USA., Vinette KMB; Nemours Molecular Diagnostics Laboratory, Nemours Children's Health System, Wilmington, Delaware 19802, USA., Daneman A; Department of Diagnostic Imaging, Division of General Radiology and Body Imaging, The Hospital for Sick Children, University of Toronto, M5G 1X8 Toronto, Ontario, Canada., Marshall CR; Genome Diagnostics, Department of Paediatric Medicine, The Hospital for Sick Children, M5G 1X8 Toronto, Ontario, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, M5S 1A8 Toronto, Ontario, Canada., Collins C; Department of Pharmaceutics, University of Washington, Seattle, Washington 98195, USA., Thummel K; Department of Pharmaceutics, University of Washington, Seattle, Washington 98195, USA., Sochett E; Department of Pediatrics, Division of Endocrinology, The Hospital for Sick Children, University of Toronto, M5G 1X8 Toronto, Ontario, Canada., Levine MA; Division of Endocrinology and Diabetes and Center for Bone Health, Children's Hospital of Philadelphia and Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA.

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2021 Sep 27; Vol. 106 (10), pp. 2915-2937.