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Tytuł:
Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis.
Autorzy:
Goodwin, AF
Oberoi, S
Landan, M
Charles, C
Groth, J
Martinez, A
Fairley, C
Weiss, LA
Tidyman, WE
Klein, OD
Rauen, KA
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Temat:
DENTITION
HOMEOSTASIS
PROTEIN-tyrosine kinases
MALOCCLUSION
MITOGEN-activated protein kinase phosphatases
Źródło:
Clinical Genetics; Jun2013, Vol. 83 Issue 6, p539-544, 6p, 2 Black and White Photographs, 2 Charts
Czasopismo naukowe
Szczegóły
Tytuł:
Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development.
Autorzy:
Shankar SP; Department of Pediatrics, University of California Davis, Sacramento, California, USA.; Department of Ophthalmology, University of California Davis, Sacramento, California, USA.
Fallurin R; Department of Internal Medicine, The Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA.
Watson T; The School of Optometry and Vision Science, University of California Berkeley, Berkeley, California, USA.
Shankar PR; Department of Public Health, University of California Davis, Sacramento, California, USA.
Young TL; Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin, USA.
Orel-Bixler D; The School of Optometry and Vision Science, University of California Berkeley, Berkeley, California, USA.
Rauen KA; Department of Pediatrics, University of California Davis, Sacramento, California, USA.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2022 Feb; Vol. 43 (1), pp. 48-57. Date of Electronic Publication: 2021 Oct 06.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Costello Syndrome*/diagnosis
Costello Syndrome*/genetics
Optic Nerve Hypoplasia*
Refractive Errors*
Strabismus*
Cross-Sectional Studies ; Female ; Humans ; Male ; Pallor ; Quality of Life ; Retrospective Studies
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders.
Autorzy:
Mitra I; Department of Psychiatry, University of California San Francisco, San Francisco, California, United States of America.; Institute for Human Genetics, University of California San Francisco, San Francisco, California, United States of America.
Lavillaureix A; Department of Psychiatry, University of California San Francisco, San Francisco, California, United States of America.; Institute for Human Genetics, University of California San Francisco, San Francisco, California, United States of America.; Université Paris Descartes, Sorbonne Paris Cité, Faculty of Medicine, Paris, France.
Yeh E; Department of Psychiatry, University of California San Francisco, San Francisco, California, United States of America.; Institute for Human Genetics, University of California San Francisco, San Francisco, California, United States of America.
Traglia M; Department of Psychiatry, University of California San Francisco, San Francisco, California, United States of America.; Institute for Human Genetics, University of California San Francisco, San Francisco, California, United States of America.
Tsang K; Department of Psychiatry, University of California San Francisco, San Francisco, California, United States of America.; Institute for Human Genetics, University of California San Francisco, San Francisco, California, United States of America.
Bearden CE; Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, California, United States of America.; Department of Psychology, University of California Los Angeles, Los Angeles, California, United States of America.
Rauen KA; Institute for Human Genetics, University of California San Francisco, San Francisco, California, United States of America.; Department of Pediatrics, School of Medicine, University of California San Francisco, San Francisco, California, United States of America.
Weiss LA; Department of Psychiatry, University of California San Francisco, San Francisco, California, United States of America.; Institute for Human Genetics, University of California San Francisco, San Francisco, California, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2017 Jan 11; Vol. 13 (1), pp. e1006516. Date of Electronic Publication: 2017 Jan 11 (Print Publication: 2017).
Typ publikacji:
Journal Article
MeSH Terms:
Epistasis, Genetic*
Autism Spectrum Disorder/*genetics
MAP Kinase Signaling System/*genetics
ras Proteins/*genetics
Cell Line ; Female ; Genes, Modifier ; Genome-Wide Association Study ; Humans ; Male ; Neural Stem Cells/metabolism ; Polymorphism, Single Nucleotide ; Receptors, G-Protein-Coupled/genetics ; Receptors, G-Protein-Coupled/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
Autorzy:
Piotrowski A; 1] Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA. [2] Faculty of Pharmacy, Medical University of Gdansk, Gdansk, Poland. [3].
Xie J; 1] Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA. [2].
Liu YF; Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Poplawski AB; Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Gomes AR; Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Madanecki P; Faculty of Pharmacy, Medical University of Gdansk, Gdansk, Poland.
Fu C; Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Crowley MR; Heflin Center for Genomic Sciences, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Crossman DK; Heflin Center for Genomic Sciences, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Armstrong L; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Babovic-Vuksanovic D; Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
Bergner A; Johns Hopkins Comprehensive Neurofibromatosis Center, Baltimore, Maryland, USA.
Blakeley JO; Johns Hopkins Comprehensive Neurofibromatosis Center, Baltimore, Maryland, USA.
Blumenthal AL; Lakeridge Health Corporation, Oshawa, Ontario, Canada.
Daniels MS; Clinical Cancer Genetics Program, MD Anderson Cancer Center, University of Texas, Houston, Texas, USA.
Feit H; Department of Neurology, Henry Ford Hospital, Detroit, Michigan, USA.
Gardner K; Department of Neurology, Veterans Administration Hospital of Pittsburgh and University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Hurst S; Lakeridge Health Corporation, Oshawa, Ontario, Canada.
Kobelka C; Kaiser Permanente Genetics Northern California, San Francisco, California, USA.
Lee C; Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, San Francisco, California, USA.
Nagy R; Department of Internal Medicine, Division of Human Genetics, Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Rauen KA; Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, San Francisco, California, USA.
Slopis JM; Department of Neuro-Oncology, MD Anderson Cancer Center, University of Texas, Houston, Texas, USA.
Suwannarat P; Kaiser Permanente Genetics Northern California, San Francisco, California, USA.
Westman JA; Department of Internal Medicine, Division of Human Genetics, Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Zanko A; Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, San Francisco, California, USA.
Korf BR; 1] Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA. [2] Heflin Center for Genomic Sciences, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Messiaen LM; Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
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Źródło:
Nature genetics [Nat Genet] 2014 Feb; Vol. 46 (2), pp. 182-7. Date of Electronic Publication: 2013 Dec 22.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Models, Molecular*
Protein Conformation*
Chromosomes, Human, Pair 22/*genetics
Genetic Predisposition to Disease/*genetics
Germ-Line Mutation/*genetics
Neurilemmoma/*genetics
Transcription Factors/*genetics
Base Sequence ; Chromosomal Proteins, Non-Histone/genetics ; DNA, Complementary/genetics ; DNA-Binding Proteins/genetics ; Gene Components ; Genes, Dominant/genetics ; Humans ; Loss of Heterozygosity ; Microsatellite Repeats/genetics ; Molecular Sequence Data ; Neurofibromatosis 2/genetics ; Pedigree ; SMARCB1 Protein ; Sequence Analysis, DNA ; Transcription Factors/chemistry
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 35

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