Informacja

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

English (EN)·Polski (PL)·Ukraiński (UK)
Przejdź do strony domowej biblioteki Uniwersytet Ekonomiczny we Wrocławiu Link otwiera się w nowym oknie Logo biblioteki Prolib Integro - strona głównaUniwersytet Ekonomiczny we Wrocławiu

Wyszukujesz frazę ""Towne MC"" wg kryterium: Autor

  Lista filtrów
Wyrównaj
    Wyświetlanie 1-3 z 3
    Tytuł:
    Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
    Autorzy:
    Yabumoto M; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
    Kianmahd J; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
    Singh M; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
    Palafox MF; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
    Wei A; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
    Elliott K; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
    Goodloe DH; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
    Dean SJ; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
    Gooch C; Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, Missouri, USA.
    Murray BK; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
    Swartz E; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
    Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
    Towne MC; Ambry Genetics Corp, Aliso Viejo, California, USA.
    Nugent K; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
    Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
    Kresge C; Department of Pediatrics, Division of Clinical Genetics, Rutgers New Jersey Medical School, Newark, New Jersey, USA.
    Pletcher BA; Department of Pediatrics, Division of Clinical Genetics, Rutgers New Jersey Medical School, Newark, New Jersey, USA.
    Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.
    Graham JM Jr; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.
    Gates R; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California, USA.
    Gomez-Ospina N; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California, USA.
    Ramanathan S; Department of Pediatrics, Division of Medical Genetics, Loma Linda University Children's Hospital, Loma Linda, California, USA.
    Clark RD; Department of Pediatrics, Division of Medical Genetics, Loma Linda University Children's Hospital, Loma Linda, California, USA.
    Glaser K; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.
    Benke PJ; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.
    Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
    Fatemi A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
    Mu W; Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
    Baranano KW; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
    Madden JA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
    Gubbels CS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
    Yu TW; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
    Agrawal PB; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
    Chambers MK; Division of Human Genetics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, Rhode Island, USA.
    Phornphutkul C; Division of Human Genetics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, Rhode Island, USA.
    Pugh JA; Division of Child Neurology, Department of Neurology, Albany Medical Center, Albany, New York, USA.
    Tauber KA; Division of Neonatology, Department of Pediatrics, Albany Medical Center, Bernard and Millie Duker Children's Hospital, Albany, New York, USA.
    Azova S; Division of Endocrinology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
    Smith JR; Division of Endocrinology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
    O'Donnell-Luria A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
    Medsker H; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
    Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
    Krakow D; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Department of Obstetrics and Gynecology, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
    Schweitzer DN; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
    Arboleda VA; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
    Pokaż więcej
    Źródło:
    Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Oct; Vol. 9 (10), pp. e1809. Date of Electronic Publication: 2021 Sep 14.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural
    MeSH Terms:
    Genetic Association Studies*
    Genetic Predisposition to Disease*
    Mutation*
    Phenotype*
    Histone Acetyltransferases/*genetics
    Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Alleles ; Blepharophimosis/diagnosis ; Blepharophimosis/genetics ; Cohort Studies ; Congenital Hypothyroidism/diagnosis ; Congenital Hypothyroidism/genetics ; Craniofacial Abnormalities/diagnosis ; Craniofacial Abnormalities/genetics ; Facies ; Genetic Counseling ; Genetic Loci ; Genotype ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/genetics ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Joint Instability/diagnosis ; Joint Instability/genetics ; Kidney/abnormalities ; Male ; Patella/abnormalities ; Psychomotor Disorders/diagnosis ; Psychomotor Disorders/genetics ; Scrotum/abnormalities ; Urogenital Abnormalities/diagnosis ; Urogenital Abnormalities/genetics
    SCR Disease Name:
    Genitopatellar Syndrome; Young Simpson syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study.
    Autorzy:
    Cacioppo CN; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.
    Chandler AE; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.
    Towne MC; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.
    Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.
    Holm IA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.
    Pokaż więcej
    Źródło:
    PloS one [PLoS One] 2016 Apr 15; Vol. 11 (4), pp. e0153597. Date of Electronic Publication: 2016 Apr 15 (Print Publication: 2016).
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural
    MeSH Terms:
    Genetic Counseling/*methods
    Rare Diseases/*genetics
    Rare Diseases/*psychology
    Access to Information ; Adolescent ; Adult ; Anticipation, Psychological ; Boston ; Child ; Child, Preschool ; Emotions ; Female ; Genetic Research ; Hospitals, Pediatric ; Humans ; Male ; Middle Aged ; Parents ; Pediatrics ; Qualitative Research ; Translational Research, Biomedical ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.
    Autorzy:
    Joshi M; 1] Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA [2] The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Eagan J; 1] Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA [2] Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA [3] The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Desai NK; Division of Gastroenterology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Newton SA; 1] Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA [2] The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Towne MC; 1] Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA [2] The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Marinakis NS; 1] Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA [2] The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Esteves KM; 1] Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA [2] Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA [3] The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    De Ferranti S; Department of Cardiology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Bennett MJ; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
    McIntyre A; Department of Medicine, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada.
    Beggs AH; 1] Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA [2] The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Berry GT; 1] Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA [2] The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Agrawal PB; 1] Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA [2] Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA [3] The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
    Pokaż więcej
    Źródło:
    European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Oct; Vol. 22 (10), pp. 1229-32. Date of Electronic Publication: 2014 Feb 19.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, N.I.H., Extramural
    MeSH Terms:
    Fatty Liver/*genetics
    Glycerol-3-Phosphate Dehydrogenase (NAD+)/*genetics
    Hepatomegaly/*genetics
    Hypertriglyceridemia/*genetics
    Carnitine O-Palmitoyltransferase/genetics ; Carnitine O-Palmitoyltransferase/metabolism ; Child ; DNA Copy Number Variations ; Fatty Liver/diagnosis ; Female ; Gene Deletion ; Genome-Wide Association Study ; Glycerol-3-Phosphate Dehydrogenase (NAD+)/metabolism ; Hepatomegaly/diagnosis ; Heterozygote ; Humans ; Hypertriglyceridemia/diagnosis ; Infant ; Mutation ; Sequence Analysis, DNA
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-3 z 3

      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