Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health.

Autor: Sundstrom R; Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut, IB 130, Indianapolis, IN, 46202, USA.; Froedtert & The Medical College of Wisconsin, 9200 W. Wisconsin Ave., Milwaukee, WI, 53226, USA., Wetherill L; Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut, IB 130, Indianapolis, IN, 46202, USA., Sapp K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut, IB 130, Indianapolis, IN, 46202, USA., McPheron M; Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut, IB 130, Indianapolis, IN, 46202, USA., Lah M; Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut, IB 130, Indianapolis, IN, 46202, USA. mspurr@iu.edu.

Publikováno v: Journal of community genetics [J Community Genet] 2023 Dec; Vol. 14 (6), pp. 627-638. Date of Electronic Publication: 2023 Oct 06.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

Autor: Niggl E; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands., Bouman A; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands. Electronic address: a.bouman@erasmusmc.nl., Briere LC; Center for Genomic Medicine and Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA., Hoogenboezem RM; Department of Hematology, Erasmus MC, 3015 GD Rotterdam, the Netherlands., Wallaard I; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands., Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Admard J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; NGS Competence Center Tübingen, Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Wilke M; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands., Harris-Mostert EDRO; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands., Elgersma M; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands., Bain J; Department of Neurology Division of Child Neurology, Columbia University Irving Medical Center, New York, NY 10032, USA., Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, S5 7AU Sheffield, UK; Department of Oncology & Metabolism, University of Sheffield, S5 7AU Sheffield, UK., Banka S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL Manchester, UK., Benke PJ; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA., Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Blesson AE; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Clayton-Smith J; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL Manchester, UK., Ellingford JM; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL Manchester, UK., Gillentine MA; Department of Laboratories, Seattle Children's Hospital, Seattle, WA 98105, USA., Goodloe DH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Diseases, University of Tübingen, 72076 Tübingen, Germany., Jain M; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Krantz I; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Luu SM; Waisman Center, University of Wisconsin Hospitals and Clinics, Madison, WI 53704, USA; Department of Medical and Molecular Genetics, Indiana University, Indianapolis, IN 46202, USA., McPheron M; Department of Medical and Molecular Genetics, Indiana University, Indianapolis, IN 46202, USA., Muss CL; Nemours / AI DuPont Hospital for Children, Wilmington, DE 19803, USA., Raible SE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA., Spiller M; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Starling S; Division of Clinical Genetics, Children's Mercy, Kansas City, MO 64108, USA; School of Medicine, University of Missouri- Kansas City, Kansas City, MO 64108, USA., Sweetser DA; Center for Genomic Medicine and Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA., Thiffault I; Division of Clinical Genetics, Children's Mercy, Kansas City, MO 64108, USA; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA., Vetrini F; Department of Medical and Molecular Genetics, Indiana University, Indianapolis, IN 46202, USA; Undiagnosed Rare Disease Clinic (URDC), Indiana University, Indianapolis, IN 46202, USA., Witt D; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Woods E; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, S5 7AU Sheffield, UK., Zhou D; Division of Clinical Genetics, Children's Mercy, Kansas City, MO 64108, USA; School of Medicine, University of Missouri- Kansas City, Kansas City, MO 64108, USA., Elgersma Y; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands. Electronic address: y.elgersma@erasmusmc.nl., van Esbroeck ACM; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015 GD Rotterdam, the Netherlands.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2023 Aug 03; Vol. 110 (8), pp. 1414-1435.

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Calibration and Testing of Small High-Resolution Transition Edge Sensor Microcalorimeters with Optical Photons.

Autor: Jaeckel FT; Department of Physics, University of Wisconsin-Madison, Madison, WI 53706 USA., Ambarish CV; Department of Physics, University of Wisconsin-Madison, Madison, WI 53706 USA., Dai H; Department of Physics, University of Wisconsin-Madison, Madison, WI 53706 USA., Liu S; Department of Physics, University of Wisconsin-Madison, Madison, WI 53706 USA., McCammon D; Department of Physics, University of Wisconsin-Madison, Madison, WI 53706 USA., McPheron M; Department of Physics, University of Wisconsin-Madison, Madison, WI 53706 USA., Nelms KL; Department of Physics, University of Wisconsin-Madison, Madison, WI 53706 USA., Roy A; Department of Physics, University of Wisconsin-Madison, Madison, WI 53706 USA., Stueber HR; Department of Physics, University of Wisconsin-Madison, Madison, WI 53706 USA., Bandler SR; NASA Goddard Space Flight Center, Greenbelt, MD 20771, USA., Chervenak JA; NASA Goddard Space Flight Center, Greenbelt, MD 20771, USA., Sakai K; NASA Goddard Space Flight Center, Greenbelt, MD 20771, USA., Smith SJ; NASA Goddard Space Flight Center, Greenbelt, MD 20771, USA.

Publikováno v: IEEE transactions on applied superconductivity : a publication of the IEEE Superconductivity Committee [IEEE Trans Appl Supercond] 2021 Jan 21; Vol. 1, pp. 1.

Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency.

Autor: McPheron M; Indiana University School of Medicine, Indianapolis, IN, USA. mmcphero@iupui.edu., Lah M; Indiana University School of Medicine, Indianapolis, IN, USA.

Publikováno v: JIMD reports [JIMD Rep] 2019; Vol. 45, pp. 83-87. Date of Electronic Publication: 2018 Nov 08.