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1دورية أكاديمية
المؤلفون: Steenhof, Maria, Stenager, Egon, Nielsen, Nete Munk, Kyvik, Kirsten, Möller, Sören, Hertz, Jens Michael
المصدر: In Multiple Sclerosis and Related Disorders July 2019 32:97-102
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2دورية أكاديمية
المؤلفون: Steenhof, MariaAff1, Aff2, Kibæk, Maria, Larsen, Martin J.Aff1, Aff2, Christensen, Mette, Lund, Allan Meldgaard, Brusgaard, KlausAff1, Aff2, Hertz, Jens MichaelAff1, Aff2
المصدر: neurogenetics. 19(3):145-149
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3دورية أكاديمية
المؤلفون: Sobering, Andrew K., Bryant, Laura M., Li, Dong, McGaughran, Julie, Maystadt, Isabelle, Moortgat, Stephanie, Graham, John M., Jr., van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Vogt, Julie, Morton, Jenny, Brasch-Andersen, Charlotte, Steenhof, Maria, Hansen, Lars Kjærsgaard, Adler, Élodie, Lyonnet, Stanislas, Pingault, Veronique, Sandrine, Marlin, Ziegler, Alban, Donald, Tyhiesia, Nelson, Beverly, Holt, Brandon, Petryna, Oleksandra, Firth, Helen, McWalter, Kirsty, Zyskind, Jacob, Telegrafi, Aida, Juusola, Jane, Person, Richard, Bamshad, Michael J., Earl, Dawn, Chun-Hui Tsai, Anne, Yearwood, Katherine R., Marco, Elysa, Nowak, Catherine, Douglas, Jessica, Hakonarson, Hakon, Bhoj, Elizabeth J.
المصدر: In Human Genetics and Genomics Advances 12 January 2023 4(1)
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4دورية أكاديمية
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5دورية أكاديمية
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6دورية أكاديمية
المؤلفون: Brieghel, Christian, Birgens, Henrik, Frederiksen, Henrik, Hertz, Jens M., Steenhof, Maria, Petersen, Jesper
المصدر: Hemoglobin; Oct2015, Vol. 39 Issue 5, p346-349, 4p
مصطلحات موضوعية: ALPHA-Thalassemia, THALASSEMIA, DELETION mutation, GLOBIN, HETEROZYGOSITY, HEMOGLOBINOPATHY, GENE amplification
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7دورية أكاديمية
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8
المؤلفون: Sobering AK, Bryant LM, Li D, McGaughran J, Maystadt I, Moortgat S, Graham JM Jr, van Haeringen A, Ruivenkamp C, Cuperus R, Vogt J, Morton J, Brasch-Andersen C, Steenhof M, Hansen LK, Adler É, Lyonnet S, Pingault V, Sandrine M, Ziegler A, Donald T, Nelson B, Holt B, Petryna O, Firth H, McWalter K, Zyskind J, Telegrafi A, Juusola J, Person R, Bamshad MJ, Earl D, Chun-Hui Tsai A, Yearwood KR, Marco E, Nowak C, Douglas J, Hakonarson H, Bhoj EJ
مؤلفون مشاركون: University of Washington Center for Mendelian Genomics
المصدر: HGG advances [HGG Adv] 2022 Dec 20; Vol. 4 (1), pp. 100168. Date of Electronic Publication: 2022 Dec 20 (Print Publication: 2023).
نوع المنشور: Published Erratum
بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: PubMed not MEDLINE
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9دورية أكاديميةVariants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
المؤلفون: Sobering AK; AU/UGA Medical Partnership, Department of Basic Sciences, University of Georgia Health Sciences Campus, Athens, GA 30602, USA.; St. George's University, Department of Biochemistry, St. George's, Grenada, West Indies.; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada, West Indies., Bryant LM; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., McGaughran J; Genetic Health Queensland, RBWH, Brisbane and The University of Queensland School of Medicine, Brisbane, QLD 4029, Australia., Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, 6041 Gosselies, Belgium., Moortgat S; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, 6041 Gosselies, Belgium., Graham JM Jr; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048, USA., van Haeringen A; Leiden University Medical Center, 9600, 2300 RC Leiden, the Netherlands., Ruivenkamp C; Leiden University Medical Center, 9600, 2300 RC Leiden, the Netherlands., Cuperus R; Juliana Children's Hospital, HAGA Medical Center, The Hague, the Netherlands., Vogt J; Birmingham Women's and Children's NHS Foundation Trust, Birmingham Women's Hospital, Birmingham B15 2TG, UK., Morton J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK., Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense 5000, Denmark.; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense 5000, Denmark., Steenhof M; Department of Clinical Genetics, Odense University Hospital, Odense 5000, Denmark., Hansen LK; Department of Paediatrics, Odense University Hospital, Odense 5000, Denmark., Adler É; Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France., Lyonnet S; Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France., Pingault V; Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France., Sandrine M; Reference Center for Genetic Deafness, Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France., Ziegler A; Reference Center for Genetic Deafness, Fédération de Médecine Génomique and Imagine Institute, Université de Paris, Hôpital Necker-Enfants Malades, APHP, 75015 Paris, France., Donald T; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada, West Indies., Nelson B; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada, West Indies., Holt B; Department of Anatomical Sciences, St. George's University, Grenada, West Indies., Petryna O; Hackensack University Ocean Medical Center, Department of Psychiatry, Hackensack, NJ 08724, USA., Firth H; Department of Clinical Genetics, Cambridge University Hospitals, Box 134, Cambridge CB2 0QQ, UK., McWalter K; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA., Zyskind J; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA., Telegrafi A; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA., Juusola J; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA., Person R; Clinical Genomics, GeneDx, Gaithersburg, MD 20877, USA., Bamshad MJ; Seattle Children's Hospital, Seattle, WA 98105, USA.; Departments of Pediatrics and Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Brotman-Baty Institute, Seattle, WA 98195, USA., Earl D; Seattle Children's Hospital, Seattle, WA 98105, USA., Tsai AC; University of Oklahoma, Section of Genetics, 800 Stanton L Young Boulevard, Oklahoma City, OK 73117, USA., Yearwood KR; University Health Services, St. George's University, Grenada, West Indies., Marco E; Cortica Healthcare, Marin Center, 4000 Civic Center Dr, Ste 100, San Rafael, CA 94903, USA., Nowak C; Boston Children's Hospital, Division of Genetics and Genomics, 60 Temple Place, 2nd Floor, Boston, MA 02111, USA., Douglas J; Boston Children's Hospital, Division of Genetics and Genomics, 60 Temple Place, 2nd Floor, Boston, MA 02111, USA., Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Bhoj EJ; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
مؤلفون مشاركون: University of Washington Center for Mendelian Genomics
المصدر: HGG advances [HGG Adv] 2022 Mar 26; Vol. 3 (3), pp. 100102. Date of Electronic Publication: 2022 Mar 26 (Print Publication: 2022).
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: PubMed not MEDLINE