نتائج البحث - "Emily E. Dunn"

المؤلفون: Vanbelleghem E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Van Damme T; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Beyens A; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Symoens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Claes K; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., De Backer J; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Cardiology, Ghent University Hospital, Ghent, Belgium., Meerschaut I; Department of Pediatric Cardiology, University Hospital Brussels, Brussels, Belgium., Vanommeslaeghe F; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., Delanghe SE; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., van den Ende J; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Beyltjens T; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Scimone ER; Department of Pediatrics, Genetics Unit, MassGeneral for Children, Boston, MA, USA., Lindsay ME; Cardiovascular Genetics Program, Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Pediatric Cardiology Division, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA., Schimmenti LA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Hinze AM; Division of Rheumatology, Mayo Clinic, Rochester, MN, USA., Dunn E; Department of Pediatrics, Division of Medical Genetic, Stanford University, Stanford, CA, USA., Gomez-Ospina N; Department of Pediatrics, Division of Medical Genetic, Stanford University, Stanford, CA, USA., Vandernoot I; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Delguste T; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Coppens S; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Cormier-Daire V; Paris Cité University, Centre of Reference for Constitutional Bone Diseases (MOC), Department of Genetics, INSERM UMR 1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Shieh J; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Demir Ş; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey., Arslan Ateş E; Department of Medical Genetics, Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Rohanizadegan M; Department of Medicine, Division of Translational Medicine & Human Genetics, University of Pennsylvania, Philadelphia, PA, USA., Rivera-Cruz G; Division of Reproductive Endocrinology and Infertility, Stanford University School of Medicine, Stanford, CA, USA., Douzgou S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Lin AE; Department of Pediatrics, Genetics Unit, MassGeneral for Children, Boston, MA, USA., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. bert.callewaert@ugent.be.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium. bert.callewaert@ugent.be.

مؤلفون مشاركون: Myhre Syndrome Foundation

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep 10. Date of Electronic Publication: 2024 Sep 10.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

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9

دورية أكاديمية

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.

المؤلفون: Vanbelleghem E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Van Damme T; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Beyens A; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Symoens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Claes K; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., De Backer J; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Cardiology, Ghent University Hospital, Ghent, Belgium., Meerschaut I; Department of Pediatric Cardiology, University Hospital Brussels, Brussels, Belgium., Vanommeslaeghe F; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., Delanghe SE; Department of Nephrology, Ghent University Hospital, Ghent, Belgium., van den Ende J; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Beyltjens T; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium., Scimone ER; Department of Pediatrics, Genetics Unit, MassGeneral for Children, Boston, MA, USA., Lindsay ME; Cardiovascular Genetics Program, Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Pediatric Cardiology Division, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA., Schimmenti LA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Hinze AM; Division of Rheumatology, Mayo Clinic, Rochester, MN, USA., Dunn E; Department of Pediatrics, Division of Medical Genetic, Stanford University, Stanford, CA, USA., Gomez-Ospina N; Department of Pediatrics, Division of Medical Genetic, Stanford University, Stanford, CA, USA., Vandernoot I; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Delguste T; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Coppens S; ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Cormier-Daire V; Paris Cité University, Centre of Reference for Constitutional Bone Diseases (MOC), Department of Genetics, INSERM UMR 1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Shieh J; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Demir Ş; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey., Arslan Ateş E; Department of Medical Genetics, Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Rohanizadegan M; Department of Medicine, Division of Translational Medicine & Human Genetics, University of Pennsylvania, Philadelphia, PA, USA., Rivera-Cruz G; Division of Reproductive Endocrinology and Infertility, Stanford University School of Medicine, Stanford, CA, USA., Douzgou S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Lin AE; Department of Pediatrics, Genetics Unit, MassGeneral for Children, Boston, MA, USA., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. bert.callewaert@ugent.be.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium. bert.callewaert@ugent.be.

مؤلفون مشاركون: Myhre Syndrome Foundation

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep; Vol. 32 (9), pp. 1086-1094. Date of Electronic Publication: 2024 Jul 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype* , Smad4 Protein*/genetics , Intellectual Disability*/genetics , Intellectual Disability*/pathology , Intellectual Disability*/diagnosis, Humans ; Male ; Adult ; Female ; Cryptorchidism/genetics ; Cryptorchidism/pathology ; Adolescent ; Growth Disorders/genetics ; Growth Disorders/pathology ; Middle Aged ; Mutation, Missense ; Facies ; Genetic Association Studies ; Hand Deformities, Congenital

SCR Disease Name: Growth mental deficiency syndrome of Myhre

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10

دورية أكاديمية

Use of Minimal Important Difference for Patient-Reported Outcome Measures in Plastic Surgery: A Systematic Review.

المؤلفون: Zhou T; McMaster University, Department of Medicine, Hamilton, Ontario, Canada., Zeng A; McMaster University, Department of Medicine, Hamilton, Ontario, Canada., Levit T; McMaster University, Department of Medicine, Hamilton, Ontario, Canada., Gallo L; McMaster University, Department of Surgery, Division of Plastic Surgery, Hamilton, Ontario, Canada., Kim P; McMaster University, Department of Surgery, Division of Plastic Surgery, Hamilton, Ontario, Canada., Chen A; McMaster University, Department of Surgery, Division of Plastic Surgery, Hamilton, Ontario, Canada., Cohen D; McMaster University, Department of Medicine, Hamilton, Ontario, Canada., Dunn E; McMaster University, Department of Surgery, Division of Plastic Surgery, Hamilton, Ontario, Canada., Thoma A; McMaster University, Department of Surgery, Division of Plastic Surgery, Hamilton, Ontario, Canada.; McMaster University, Department of Health Research Methods, Evidence and Impact (HEI), Hamilton, Ontario, Canada.

المصدر: Plastic and reconstructive surgery [Plast Reconstr Surg] 2024 Aug 02. Date of Electronic Publication: 2024 Aug 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 1306050 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-4242 (Electronic) Linking ISSN: 00321052 NLM ISO Abbreviation: Plast Reconstr Surg Subsets: MEDLINE

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