Heterogeneity of otolith chemical composition from two-dimensional mapping: Relationship with biomineralization mechanisms and implications for microchemistry analyses.

Autor: de Pontual H; Ifremer DECOD (Ecosystem Dynamics and Sustainability), Ifremer, INRAE, Institut Agro, Centre Bretagne, HALGO, LBH, Plouzané, France., MacKenzie KM; Ifremer HMMN (Channel and North Sea Fisheries Research Unit), Boulogne-sur-Mer, France., Tabouret H; UMR 5254, Université de Pau et des Pays de l'Adour (UPPA), Avenue de l'Université, Pau, France., Daverat F; INRAE, UMR 1224 Ecobiop, Aquapôle, Saint-Pée-sur-Nivelle, France., Mahé K; Ifremer HMMN (Channel and North Sea Fisheries Research Unit), Boulogne-sur-Mer, France., Pecheyran C; UMR 5254, Université de Pau et des Pays de l'Adour (UPPA), Avenue de l'Université, Pau, France., Hüssy K; National Institute of Aquatic Resources, Section for Oceans and Arctic, Technical University of Denmark, Kongens Lyngby, Denmark.

Publikováno v: Journal of fish biology [J Fish Biol] 2024 Jan; Vol. 104 (1), pp. 20-33. Date of Electronic Publication: 2023 Sep 22.

Predicting Perceived Problems in Self-Administered 24-Hour Dietary Recalls: A Quantitative Think-Aloud Study Comparing Automated Self-Assisted 24-Hour Dietary Assessment Tool (ASA24 ^® ) and INTAKE24© in University Students.

Autor: Mackenzie KM; Curtin School of Population Health, Curtin University, Kent Street, Perth 6845, Australia.; Enable Institute, Curtin University, Kent Street, Perth 6845, Australia., Kerr DA; Curtin School of Population Health, Curtin University, Kent Street, Perth 6845, Australia.; Curtin Health Innovation Research Institute, Curtin University, Kent Street, Perth 6845, Australia., Whitton C; Curtin School of Population Health, Curtin University, Kent Street, Perth 6845, Australia.; Curtin Health Innovation Research Institute, Curtin University, Kent Street, Perth 6845, Australia., Talati Z; Curtin School of Population Health, Curtin University, Kent Street, Perth 6845, Australia., McCaffrey TA; Department of Nutrition and Dietetics, Monash University, 264 Ferntree Gully Road, Notting Hill 3168, Australia., Mullan BA; Curtin School of Population Health, Curtin University, Kent Street, Perth 6845, Australia.; Enable Institute, Curtin University, Kent Street, Perth 6845, Australia.

Publikováno v: Nutrients [Nutrients] 2022 Oct 13; Vol. 14 (20). Date of Electronic Publication: 2022 Oct 13.

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

Autor: Mao D; Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Reuter CM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Stanford School of Medicine, Stanford, CA 94305, USA., Ruzhnikov MRZ; Department of Neurology and Neurological Sciences, Stanford, CA 94305, USA; Division of Medical Genetics, Department of Pediatrics, Stanford Medicine, Stanford, CA 94305, USA., Beck AE; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA., Farrow EG; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Department of Pediatrics, Children's Mercy Hospitals, Kansas City, MO 64108, USA., Emrick LT; Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Mackenzie KM; Department of Neurology and Neurological Sciences, Stanford, CA 94305, USA., Robak L; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Wheeler MT; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Burrage LC; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Jain M; Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Liu P; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Calame D; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Küry S; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, Nantes 44007, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, Nantes 44007, France., Sillesen M; Department of Surgical Gastroenterology, Copenhagen University Hospital, Copenhagen 2100, Denmark., Schmitz-Abe K; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA., Tonduti D; Unit of Child Neurology, V. Buzzi Children's Hospital, Milan 20154, Italy., Spaccini L; Clinical Genetics Unit, Department of Obstetrics and Gynecology, V. Buzzi Children's Hospital, University of Milan, Milan 20154, Italy., Iascone M; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo 24127, Italy., Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA., Koenig MK; Department of Pediatrics, McGovern Medical School, The University of Texas Health Sciences Center at Houston, Houston, TX 77030, USA., Graf M; Stanford Cancer Genetics, Stanford Healthcare, Stanford, CA 94305, USA., Tran A; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Alejandro M; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Lee BH; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, MO 64108, USA., Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA., Bernstein JA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA., Bellen HJ; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Program in Development, Disease Models, and Therapeutics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA; Howard Hughes Medical Institute, BCM, Houston, TX 77030, USA. Electronic address: hbellen@bcm.edu., Chao HT; Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Program in Development, Disease Models, and Therapeutics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX 77030, USA. Electronic address: hc140077@bcm.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2020 Apr 02; Vol. 106 (4), pp. 570-583. Date of Electronic Publication: 2020 Mar 19.

An experimental study of the effect of "error board reporting" as an instrument for improving student proficiency in the surgical setting during the COVID-19 pandemic.

Autor: Gazerani, Akram¹, Hosseini, Mohsen Masoumian², Amini, Zakiyeh³, Masoumian Hosseini, Seyedeh Toktam⁴, Manzari, Zahra Sadat^5,6 Manzariz@mums.ac.ir

Publikováno v: Journal of Medical Education Development. 2024, Vol. 17 Issue 54, p78-88. 11p.

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.

Autor: Kumar A; Department of Pediatrics, Stanford School of Medicine, Stanford, California., Zastrow DB; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California., Kravets EJ; Department of Pediatrics, Stanford School of Medicine, Stanford, California., Beleford D; Institute for Human Genetics and Division of Medical Genetics, Pediatrics, San Francisco, California., Ruzhnikov MRZ; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California.; Department of Neurology, Stanford School of Medicine, Stanford, California., Grove ME; Clinical Genomics Program, Stanford Health Care, Stanford, California., Dries AM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California., Kohler JN; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California., Waggott DM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California., Yang Y; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Huang Y; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California., Mackenzie KM; Department of Neurology, Stanford School of Medicine, Stanford, California., Eng CM; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Fisher PG; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California.; Department of Neurology, Stanford School of Medicine, Stanford, California., Ashley EA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California.; Department of Medicine, Stanford University School of Medicine, Stanford, California.; Department of Genetics, Stanford School of Medicine, Stanford, California., Teng JM; Department of Dermatology, Stanford School of Medicine, Stanford, California., Stevenson DA; Department of Pediatrics, Stanford School of Medicine, Stanford, California., Shieh JT; Institute for Human Genetics and Division of Medical Genetics, Pediatrics, San Francisco, California., Wheeler MT; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California.; Department of Medicine, Stanford University School of Medicine, Stanford, California., Bernstein JA; Department of Pediatrics, Stanford School of Medicine, Stanford, California.; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Jun; Vol. 179 (6), pp. 966-977. Date of Electronic Publication: 2019 Mar 28.