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    Wyświetlanie 1-7 z 7
    Tytuł:
    PKD1L1 Is Involved in Congenital Chylothorax.
    Autorzy:
    Whitchurch JB; Mammalian Genetics Unit, MRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
    Schneider S; Department of Neonatology and Paediatric Intensive Care, University Hospital Bonn Center of Paediatrics, 53127 Bonn, Germany.; Institute of Human Genetics, University Hospital Bonn, 53127 Bonn, Germany.
    Hilger AC; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, 91054 Erlangen, Germany.
    Köllges R; Department of Neonatology and Paediatric Intensive Care, University Hospital Bonn Center of Paediatrics, 53127 Bonn, Germany.; Institute of Human Genetics, University Hospital Bonn, 53127 Bonn, Germany.
    Stegmann JD; Department of Neonatology and Paediatric Intensive Care, University Hospital Bonn Center of Paediatrics, 53127 Bonn, Germany.; Institute of Human Genetics, University Hospital Bonn, 53127 Bonn, Germany.
    Waffenschmidt L; Institute of Human Genetics, University Hospital Bonn, 53127 Bonn, Germany.; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, 91054 Erlangen, Germany.
    Dyer L; Mammalian Genetics Unit, MRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
    Thiele H; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
    Dhabhai B; Genome & Computational Biology Lab, Department of Biotechnology, Mohanlal Sukhadia University, Udaipur 313001, India.
    Dakal TC; Genome & Computational Biology Lab, Department of Biotechnology, Mohanlal Sukhadia University, Udaipur 313001, India.
    Müller A; Department of Neonatology and Paediatric Intensive Care, University Hospital Bonn Center of Paediatrics, 53127 Bonn, Germany.
    Norris DP; Mammalian Genetics Unit, MRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
    Reutter HM; Institute of Human Genetics, University Hospital Bonn, 53127 Bonn, Germany.; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, 91054 Erlangen, Germany.
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    Źródło:
    Cells [Cells] 2024 Jan 12; Vol. 13 (2). Date of Electronic Publication: 2024 Jan 12.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Chylothorax*/genetics
    Animals ; Female ; Humans ; Mice ; Pregnancy ; Fetus ; Genetic Diseases, X-Linked ; Hydrops Fetalis ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Mice, Knockout
    SCR Disease Name:
    Chylothorax, congenital
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.
    Autorzy:
    Dworschak GC; Institute of Human Genetics, Medical Faculty, University of Bonn, Venusberg-Campus 1, 53127, Bonn, Germany. .; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53115, Bonn, Germany. .; Department of Pediatrics, University Hospital Bonn, 53127, Bonn, Germany. .
    Reutter HM; Institute of Human Genetics, Medical Faculty, University of Bonn, Venusberg-Campus 1, 53127, Bonn, Germany.; Department of Neonatology and Pediatric Intensive Care, University Hospital Bonn, 53127, Bonn, Germany.
    Ludwig M; Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, 53127, Bonn, Germany.
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Apr 09; Vol. 16 (1), pp. 167. Date of Electronic Publication: 2021 Apr 09.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't; Review
    MeSH Terms:
    Digestive System Abnormalities*/genetics
    Syringomyelia*
    Anal Canal/abnormalities ; Female ; Homeodomain Proteins/genetics ; Humans ; Male ; Rectum/abnormalities ; Sacrum/abnormalities ; Transcription Factors/genetics
    SCR Disease Name:
    Currarino triad
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Lessons Learned from CNV Analysis of Major Birth Defects.
    Autorzy:
    Hilger AC; Department of Pediatrics, Children's Hospital Medical Center, University Hospital Bonn, 53127 Bonn, Germany.; Institute of Human Genetics, University Hospital Bonn, 53127 Bonn, Germany.; Institute for Anatomy and Cell Biology, University Hospital Bonn, University of Bonn, 53115 Bonn, Germany.
    Dworschak GC; Department of Pediatrics, Children's Hospital Medical Center, University Hospital Bonn, 53127 Bonn, Germany.; Institute of Human Genetics, University Hospital Bonn, 53127 Bonn, Germany.; Institute for Anatomy and Cell Biology, University Hospital Bonn, University of Bonn, 53115 Bonn, Germany.
    Reutter HM; Institute of Human Genetics, University Hospital Bonn, 53127 Bonn, Germany.; Department of Neonatology and Pediatric Intensive Care, Children's Hospital Medical Center, University Hospital Bonn, 53127 Bonn, Germany.
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    Źródło:
    International journal of molecular sciences [Int J Mol Sci] 2020 Nov 03; Vol. 21 (21). Date of Electronic Publication: 2020 Nov 03.
    Typ publikacji:
    Journal Article; Review
    MeSH Terms:
    DNA Copy Number Variations*/genetics
    DNA Mutational Analysis*/methods
    Congenital Abnormalities/*genetics
    Child ; Congenital Abnormalities/epidemiology ; Female ; Humans ; Infant, Newborn ; Intellectual Disability/epidemiology ; Intellectual Disability/genetics ; Karyotyping/methods ; Male ; Nervous System Malformations/epidemiology ; Nervous System Malformations/genetics ; Phenotype ; Polymorphism, Genetic/physiology ; Pregnancy
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    More than fetal urine: enteral uptake of amniotic fluid as a major predictor for fetal growth during late gestation.
    Autorzy:
    Bagci S; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Adenauerallee 119, 53113, Bonn, Germany. .
    Brosens E; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
    Tibboel D; Department of Pediatric Surgery and Intensive Care, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, The Netherlands.
    De Klein A; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
    Ijsselstijn H; Department of Pediatric Surgery and Intensive Care, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, The Netherlands.
    Wijers CH; Department for Health Evidence, Radboud Institute for Health Sciences, Radboudumc, Nijmegen, The Netherlands.
    Roeleveld N; Department for Health Evidence, Radboud Institute for Health Sciences, Radboudumc, Nijmegen, The Netherlands.
    de Blaauw I; Department of Surgery-Pediatric Surgery, Radboudumc Amalia Children's Hospital, Nijmegen, The Netherlands.
    Broens PM; Department of Surgery, Anorectal Physiology Laboratory, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Department of Surgery, Division of Pediatric Surgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
    van Rooij IA; Department for Health Evidence, Radboud Institute for Health Sciences, Radboudumc, Nijmegen, The Netherlands.
    Hölscher A; Department of Pediatric Surgery and Urology, University Hospital Cologne, Cologne, Germany.
    Boemers TM; Department of Pediatric Surgery and Urology, University Hospital Cologne, Cologne, Germany.
    Pauly M; Department of Pediatric Surgery, Asklepios Children's Hospital St. Augustin, St. Augustin, Germany.
    Münsterer OJ; Department of Pediatric Surgery, University Medicine of Mainz, Mainz, Germany.
    Schmiedeke E; Department of Pediatric Surgery and Urology, Center for Child and Youth Health, Klinikum Bremen-Mitte, Bremen, Germany.
    Schäfer M; Department of Pediatric Surgery and Urology, Cnopf'sche Kinderklinik, Nürnberg, Germany.
    Ure BE; Center of Pediatric Surgery Hannover, Hannover Medical School and Bult Children's Hospital, Hannover, Germany.
    Lacher M; Center of Pediatric Surgery Hannover, Hannover Medical School and Bult Children's Hospital, Hannover, Germany.
    Choinitzki V; Institute of Human Genetics, University of Bonn, Bonn, Germany.
    Schumacher J; Institute of Human Genetics, University of Bonn, Bonn, Germany.
    Zwink N; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany.
    Jenetzky E; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany.; Department of Child and Adolescent Psychiatry and Psychotherapy, Johannes-Gutenberg University, Mainz, Germany.
    Katzer D; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Adenauerallee 119, 53113, Bonn, Germany.
    Arand J; Department of Neonatology, University Children's Hospital of Tübingen, University of Tübingen, Tübingen, Germany.
    Bartmann P; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Adenauerallee 119, 53113, Bonn, Germany.
    Reutter HM; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Adenauerallee 119, 53113, Bonn, Germany.; Institute of Human Genetics, University of Bonn, Bonn, Germany.
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    Źródło:
    European journal of pediatrics [Eur J Pediatr] 2016 Jun; Vol. 175 (6), pp. 825-31. Date of Electronic Publication: 2016 Mar 16.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Fetal Development*
    Amniotic Fluid/*physiology
    Birth Weight/*physiology
    Colon/*abnormalities
    Esophageal Atresia/*physiopathology
    Infant, Small for Gestational Age/*physiology
    Intestinal Atresia/*physiopathology
    Anorectal Malformations/physiopathology ; Case-Control Studies ; Female ; Gestational Age ; Humans ; Infant, Newborn ; Male ; Pregnancy ; Retrospective Studies ; Sex Distribution ; Statistics, Nonparametric
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    A classic twin study of isolated gastroschisis.
    Autorzy:
    Schulz AC; University of Bonn, Neonatology, Bonn, Germany.
    Stressig R
    Ritgen J
    Bagci S
    Müller A
    Gembruch U
    Geipel A
    Berg C
    Bartmann P
    Reutter HM
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    Źródło:
    Fetal and pediatric pathology [Fetal Pediatr Pathol] 2012 Oct; Vol. 31 (5), pp. 324-30. Date of Electronic Publication: 2012 Mar 20.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't; Review; Twin Study
    MeSH Terms:
    Pregnancy, Twin*
    Diseases in Twins/*genetics
    Gastroschisis/*genetics
    Adult ; Diseases in Twins/epidemiology ; Female ; Gastroschisis/epidemiology ; Genetic Predisposition to Disease ; Germany/epidemiology ; Gestational Age ; Humans ; Male ; Pregnancy ; Pregnancy Outcome ; Registries ; Twins, Dizygotic/genetics ; Twins, Monozygotic/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Gender-associated differences in the psychosocial and developmental outcome in patients affected with the bladder exstrophy-epispadias complex.
    Autorzy:
    Lee C; Zentrum für Kinderheilkunde, Universitätsklinikim Bonn, Bonn, Germany.
    Reutter HM
    Grässer MF
    Fisch M
    Noeker M
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    Źródło:
    BJU international [BJU Int] 2006 Feb; Vol. 97 (2), pp. 349-53.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Bladder Exstrophy/*psychology
    Epispadias/*psychology
    Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Interpersonal Relations ; Male ; Personal Satisfaction ; Psychosexual Development ; Quality of Life ; Sex Characteristics ; Surveys and Questionnaires
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-7 z 7

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