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Wyświetlanie 1-12 z 12
Tytuł:
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
Autorzy:
Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America.
Neu MB; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America.; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States of America.
Ramaker RC; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America.; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States of America.
Hardigan AA; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America.; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States of America.
Prokop JW; Department of Pediatrics and Human Development, Michigan State University, East Lansing, MI, United States of America.
Hancarova M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Prchalova D; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Havlovicova M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Prchal J; Laboratory of NMR Spectroscopy, University of Chemistry and Technology, Prague, Czech Republic.
Stranecky V; Department of Pediatrics and Adolescent Medicine, Diagnostic and Research Unit for Rare Diseases, Charles University 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Yim DKC; Kaiser Permanente-Hawaii, Honolulu, HI, United States of America.
Powis Z; Department of Emerging Genetic Medicine, Ambry Genetics, Aliso Viejo, CA, United States of America.
Keren B; Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
Nava C; Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
Mignot C; Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; Groupe de Recherche Clinique UPMC 'Déficience Intellectuelle et Autisme', Paris, France.
Rio M; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; Assistance Publique-Hôpitaux de Paris, service de Génétique, Hôpital Necker-Enfants-Malades, Paris, France.
Revah-Politi A; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, United States of America.
Hemati P; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, United States of America.
Stong N; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, United States of America.
Iglesias AD; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY, United States of America.
Suchy SF; GeneDx, Gaithersburg, MD, United States of America.
Willaert R; GeneDx, Gaithersburg, MD, United States of America.
Wentzensen IM; GeneDx, Gaithersburg, MD, United States of America.
Wheeler PG; Arnold Palmer Hospital, Division of Genetics, Orlando, FL, United States of America.
Brick L; Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada.
Kozenko M; Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada.
Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States of America.
Wheless JW; Division of Pediatric Neurology, University of Tennessee Health Science Center, Neuroscience Institute & Le Bonheur Comprehensive Epilepsy Program, Memphis, TN, United States of America.; Le Bonheur Children's Hospital, Memphis, TN, United States of America.
Lacassie Y; Division of Clinical Genetics, Louisiana State University Health Sciences Center, New Orleans, LA, United States of America.; Department of Genetics, Children's Hospital, New Orleans, LA, United States of America.
Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America.
Barsh GS; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America.
Sedlacek Z; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2018 Nov 30; Vol. 14 (11), pp. e1007671. Date of Electronic Publication: 2018 Nov 30 (Print Publication: 2018).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Developmental Disabilities/*genetics
Intellectual Disability/*genetics
Mitochondrial Proteins/*genetics
Protein Interaction Domains and Motifs/*genetics
ral GTP-Binding Proteins/*genetics
ras Proteins/*genetics
Facies ; Genotype ; Guanosine Diphosphate/metabolism ; Guanosine Triphosphate/metabolism ; Humans ; Mitochondrial Proteins/chemistry ; Models, Molecular ; Mutation, Missense ; Phenotype ; Protein Conformation ; ral GTP-Binding Proteins/chemistry ; ras Proteins/chemistry
Czasopismo naukowe
Tytuł:
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Autorzy:
Küry, Sébastien (AUTHOR)
Ebstein, Frédéric (AUTHOR)
Mollé, Alice (AUTHOR)
Besnard, Thomas (AUTHOR)
Lee, Ming-Kang (AUTHOR)
Vignard, Virginie (AUTHOR)
Hery, Tiphaine (AUTHOR)
Nizon, Mathilde (AUTHOR)
Mancini, Grazia M.S. (AUTHOR)
Giltay, Jacques C. (AUTHOR)
Cogné, Benjamin (AUTHOR)
McWalter, Kirsty (AUTHOR)
Deb, Wallid (AUTHOR)
Mor-Shaked, Hagar (AUTHOR)
Li, Hong (AUTHOR)
Schnur, Rhonda E. (AUTHOR)
Wentzensen, Ingrid M. (AUTHOR)
Denommé-Pichon, Anne-Sophie (AUTHOR)
Fourgeux, Cynthia (AUTHOR)
Verheijen, Frans W. (AUTHOR)
Pokaż więcej
Temat:
GENETIC variation
HISTONES
MONONUCLEAR leukocytes
CHROMATIN
GERM cells
NEURAL development
MISSENSE mutation
Źródło:
American Journal of Human Genetics. Feb2022, Vol. 109 Issue 2, p361-372. 12p.
Czasopismo naukowe
Tytuł:
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Autorzy:
Balak, Chris (AUTHOR)
Benard, Marianne (AUTHOR)
Schaefer, Elise (AUTHOR)
Iqbal, Sumaiya (AUTHOR)
Ramsey, Keri (AUTHOR)
Ernoult-Lange, Michèle (AUTHOR)
Mattioli, Francesca (AUTHOR)
Llaci, Lorida (AUTHOR)
Geoffroy, Véronique (AUTHOR)
Courel, Maité (AUTHOR)
Naymik, Marcus (AUTHOR)
Bachman, Kristine K. (AUTHOR)
Pfundt, Rolph (AUTHOR)
Rump, Patrick (AUTHOR)
ter Beest, Johanna (AUTHOR)
Wentzensen, Ingrid M. (AUTHOR)
Monaghan, Kristin G. (AUTHOR)
McWalter, Kirsty (AUTHOR)
Richholt, Ryan (AUTHOR)
Le Béchec, Antony (AUTHOR)
Pokaż więcej
Temat:
RNA helicase
INTELLECTUAL disabilities
RNA
PROTEIN binding
HELICASES
Źródło:
American Journal of Human Genetics. Sep2019, Vol. 105 Issue 3, p509-525. 17p.
Czasopismo naukowe
Tytuł:
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
Autorzy:
Hiatt, Susan M. (AUTHOR)
Thompson, Michelle L. (AUTHOR)
Prokop, Jeremy W. (AUTHOR)
Lawlor, James M.J. (AUTHOR)
Gray, David E. (AUTHOR)
Bebin, E. Martina (AUTHOR)
Rinne, Tuula (AUTHOR)
Kempers, Marlies (AUTHOR)
Pfundt, Rolph (AUTHOR)
van Bon, Bregje W. (AUTHOR)
Mignot, Cyril (AUTHOR)
Nava, Caroline (AUTHOR)
Depienne, Christel (AUTHOR)
Kalsner, Louisa (AUTHOR)
Rauch, Anita (AUTHOR)
Joset, Pascal (AUTHOR)
Bachmann-Gagescu, Ruxandra (AUTHOR)
Wentzensen, Ingrid M. (AUTHOR)
McWalter, Kirsty (AUTHOR)
Cooper, Gregory M. (AUTHOR)
Pokaż więcej
Temat:
SERINE/THREONINE kinases
DEVELOPMENTAL delay
INTELLECTUAL disabilities
NUCLEOTIDE sequencing
DISEASES
COST functions
Źródło:
American Journal of Human Genetics. Apr2019, Vol. 104 Issue 4, p701-708. 8p.
Czasopismo naukowe
    Wyświetlanie 1-12 z 12

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