Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Wyszukujesz frazę ""Thomy, T."" wg kryterium: Autor


Wyświetlanie 1-11 z 11
Tytuł:
A pandemic education.
Autorzy:
da Silva CFA; University of Sao Paulo, Sao Paulo, SP 03828-000, Brazil.
Uzonyi A; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot 7610001, Israel.
Cusimano JM; Bernard J. Dunn School of Pharmacy, Shenandoah University, Winchester, VA 22601, USA.
Nilsson T; Department of Psychology, University of Prince Edward Island, Charlottetown, PEI C1A 4P3, Canada.
Konstantinides N; Institut Jacques Monod, 75013 Paris, France.
Oda F; Department of Applied Behavioral Science, University of Kansas, Lawrence, KS 66045, USA.
Al Harraq A; Cain Department of Chemical Engineering, Louisiana State University, Baton Rouge, LA 70803, USA.
Beardsley F; Department of Anthropology, University of La Verne, La Verne, CA 91750, USA.
Heim AB; Department of Ecology & Evolutionary Biology, Cornell University, Ithaca, NY 14853, USA.
Jiang J; Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui 230026, China.
Buhle EL Jr; DNAnexus, Mountain View, CA 94040, USA.
Burnette K; Department of Evolution, Ecology, and Organismal Biology, University of California, Riverside, Riverside, CA 92521, USA.
Pokaż więcej
Źródło:
Science (New York, N.Y.) [Science] 2022 Mar 11; Vol. 375 (6585), pp. 1086-1087. Date of Electronic Publication: 2022 Mar 10.
Typ publikacji:
Letter
Opinia redakcyjna
Tytuł:
A living meta-ecological study of the consequences of the COVID-19 pandemic on mental health.
Autorzy:
Leucht S; Department of Psychiatry and Psychotherapy, Technical University of Munich, School of Medicine, Klinikum Rechts der Isar, Ismaningerstr 22, 81675, Munich, Germany. .
Cipriani A; Department of Psychiatry, University of Oxford, Oxford, UK.
Furukawa TA; Department of Health Promotion and Human Behavior, School of Public Health, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Peter N; Department of Psychiatry and Psychotherapy, Technical University of Munich, School of Medicine, Klinikum Rechts der Isar, Ismaningerstr 22, 81675, Munich, Germany.
Tonia T; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
Papakonstantinou T; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
Holloway A; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
Salanti G; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
Pokaż więcej
Źródło:
European archives of psychiatry and clinical neuroscience [Eur Arch Psychiatry Clin Neurosci] 2021 Mar; Vol. 271 (2), pp. 219-221.
Typ publikacji:
Editorial
MeSH Terms:
Mental Health*
COVID-19/*epidemiology
Mental Disorders/*epidemiology
Humans ; Prevalence ; Research Design ; SARS-CoV-2
Opinia redakcyjna
Tytuł:
Does access to clinical study reports from the European Medicines Agency reduce reporting biases? A systematic review and meta-analysis of randomized controlled trials on the effect of erythropoiesis-stimulating agents in cancer patients.
Autorzy:
Rohner E; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
Grabik M; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
Tonia T; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
Jüni P; University of Toronto, Applied Health Research Centre, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada.
Pétavy F; European Medicines Agency, London, United Kingdom.
Pignatti F; European Medicines Agency, London, United Kingdom.
Bohlius J; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2017 Dec 11; Vol. 12 (12), pp. e0189309. Date of Electronic Publication: 2017 Dec 11 (Print Publication: 2017).
Typ publikacji:
Journal Article; Meta-Analysis; Review; Systematic Review
MeSH Terms:
Publication Bias*
Randomized Controlled Trials as Topic*
Hematinics/*therapeutic use
Anemia/drug therapy ; Anemia/etiology ; Humans ; Neoplasms/complications ; Quality of Life
Czasopismo naukowe
Tytuł:
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
Autorzy:
Van Cauwenbergh C; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
Coppieters F; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
Roels D; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
De Jaegere S; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
Flipts H; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.; Center for Human Genetics, University Hospitals Leuven, Louvain, Belgium.
De Zaeytijd J; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
Walraedt S; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
Claes C; Center for Medical Genetics Antwerp, Antwerp University, Antwerp, Belgium.
Fransen E; Center for Medical Genetics Antwerp, Antwerp University, Antwerp, Belgium.
Van Camp G; Center for Medical Genetics Antwerp, Antwerp University, Antwerp, Belgium.
Depasse F; Department of Ophthalmology, Hôpital Erasme-ULB, Brussels, Belgium.
Casteels I; Department of Ophthalmology, University Hospitals Leuven, Louvain, Belgium.
de Ravel T; Center for Human Genetics, University Hospitals Leuven, Louvain, Belgium.
Leroy BP; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.; Division of Ophthalmology & Center for Cellular & Molecular Therapy, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.
De Baere E; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2017 Jan 11; Vol. 12 (1), pp. e0170038. Date of Electronic Publication: 2017 Jan 11 (Print Publication: 2017).
Typ publikacji:
Journal Article
MeSH Terms:
Mutation*
RNA Splicing Factors/*genetics
Adult ; Aged ; Belgium ; Cohort Studies ; DNA Mutational Analysis ; Eye Proteins/genetics ; Family ; Female ; Gene Frequency ; Genes, Dominant ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Retinitis Pigmentosa/genetics
Czasopismo naukowe
Tytuł:
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management.
Autorzy:
Bayindir B; Centre for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Dehaspe L; Centre for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
Brison N; Centre for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
Brady P; Centre for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
Ardui S; Centre for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
Kammoun M; Centre for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
Van der Veken L; Department of Medical Genetics, University Medical Center Utrecht, AB Utrecht, The Netherlands.
Lichtenbelt K; Department of Medical Genetics, University Medical Center Utrecht, AB Utrecht, The Netherlands.
Van den Bogaert K; Centre for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
Van Houdt J; Centre for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
Peeters H; Centre for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
Van Esch H; Centre for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
de Ravel T; Centre for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
Legius E; Centre for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
Devriendt K; Centre for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
Vermeesch JR; Centre for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
Pokaż więcej
Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Oct; Vol. 23 (10), pp. 1286-93. Date of Electronic Publication: 2015 Jan 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Disorders/*genetics
Chromosomes, Human/*genetics
Genetic Testing/*methods
Prenatal Diagnosis/*methods
Aneuploidy ; Chromosome Aberrations ; Chromosomes, Human, Pair 18/genetics ; Down Syndrome/genetics ; Female ; Fetus/pathology ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Placenta/pathology ; Pregnancy ; Retrospective Studies ; Trisomy/genetics ; Trisomy 18 Syndrome
Czasopismo naukowe
Tytuł:
Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.
Autorzy:
Goubau C; 1] Department of cardiovascular sciences, Centre for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium [2] Department of Pediatrics, UZ Leuven, Leuven, Belgium.
Devriendt K
Van der Aa N
Crepel A
Wieczorek D
Kleefstra T
Willemsen MH
Rauch A
Tzschach A
de Ravel T
Leemans P
Van Geet C
Buyse G
Freson K
Pokaż więcej
Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Dec; Vol. 21 (12), pp. 1349-55. Date of Electronic Publication: 2013 May 01.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Blood Platelets/*metabolism
Chromosomes, Human, Pair 14/*genetics
Forkhead Transcription Factors/*genetics
Mutation/*genetics
Nerve Tissue Proteins/*genetics
Rett Syndrome/*genetics
Translocation, Genetic/*genetics
Adult ; Brain/metabolism ; Child ; Female ; Fibroblasts/metabolism ; Forkhead Transcription Factors/metabolism ; Humans ; Male ; Nerve Tissue Proteins/metabolism ; Rett Syndrome/metabolism ; Skin/metabolism
Czasopismo naukowe
Tytuł:
Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations.
Autorzy:
Cassiman C; Department of Ophthalmology, University Hospitals of Leuven, Leuven, Belgium. />Spileers W
De Baere E
de Ravel T
Casteels I
Pokaż więcej
Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2013 Mar-Jun; Vol. 34 (1-2), pp. 105-8. Date of Electronic Publication: 2012 Oct 05.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Codon, Nonsense*
Eye Diseases, Hereditary/*genetics
Night Blindness/*genetics
Orphan Nuclear Receptors/*genetics
Retina/*abnormalities
Retinal Degeneration/*genetics
Vision Disorders/*genetics
Consanguinity ; DNA Mutational Analysis ; Electroretinography ; Exons/genetics ; Eye Diseases, Hereditary/diagnosis ; Eye Diseases, Hereditary/physiopathology ; Fundus Oculi ; Homozygote ; Humans ; Infant ; Male ; Night Blindness/diagnosis ; Night Blindness/physiopathology ; Phenotype ; Retina/physiopathology ; Retinal Degeneration/diagnosis ; Retinal Degeneration/physiopathology ; Vision Disorders/diagnosis ; Vision Disorders/physiopathology
SCR Disease Name:
Enhanced S-Cone Syndrome
Czasopismo naukowe
Tytuł:
Social phenotypes in genetic syndromes.
Autorzy:
Swillen A
de Ravel T
Oliver C
Pokaż więcej
Źródło:
Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2012 Oct; Vol. 56 (10), pp. 919-21.
Typ publikacji:
Congress; Editorial
MeSH Terms:
Social Behavior*
Intellectual Disability/*genetics
Intellectual Disability/*psychology
Genetic Predisposition to Disease/genetics ; Humans ; Phenotype ; Syndrome
Opinia redakcyjna
Tytuł:
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
Autorzy:
Franco LM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
de Ravel T
Graham BH
Frenkel SM
Van Driessche J
Stankiewicz P
Lupski JR
Vermeesch JR
Cheung SW
Pokaż więcej
Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2010 Feb; Vol. 18 (2), pp. 258-61. Date of Electronic Publication: 2009 Oct 21.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosomes, Human, Pair 5*
Segmental Duplications, Genomic*
Syndrome*
Body Height/*genetics
Developmental Disabilities/*genetics
Intracellular Signaling Peptides and Proteins/*genetics
Language Development Disorders/*genetics
Nuclear Proteins/*genetics
Adult ; Child ; Chromosome Mapping ; Face/abnormalities ; Gene Rearrangement ; Genetic Variation ; Histone Methyltransferases ; Histone-Lysine N-Methyltransferase ; Humans ; Male ; Microcephaly/genetics ; Phenotype ; Point Mutation ; Sequence Deletion
Czasopismo naukowe
Tytuł:
Partial duplications of the ATRX gene cause the ATR-X syndrome.
Autorzy:
Thienpont B; Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.
de Ravel T
Van Esch H
Van Schoubroeck D
Moerman P
Vermeesch JR
Fryns JP
Froyen G
Lacoste C
Badens C
Devriendt K
Pokaż więcej
Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2007 Oct; Vol. 15 (10), pp. 1094-7. Date of Electronic Publication: 2007 Jun 20.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Gene Duplication*
DNA Helicases/*genetics
Mental Retardation, X-Linked/*genetics
Nuclear Proteins/*genetics
alpha-Thalassemia/*genetics
DNA Mutational Analysis ; Humans ; Infant ; Infant, Newborn ; Male ; Mental Retardation, X-Linked/metabolism ; Mutation ; Phenotype ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Syndrome ; X-linked Nuclear Protein ; alpha-Thalassemia/metabolism
Czasopismo naukowe
    Wyświetlanie 1-11 z 11

    Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies