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Material Type: Artigo
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Quality of Life and Its Determinants in a Multicenter Cohort of Children with Alagille SyndromeKamath, Binita M., MBBChir ; Chen, Zhen, MS ; Romero, Rene, MD ; Fredericks, Emily M., PhD ; Alonso, Estella M., MD ; Arnon, Ronen, MD ; Heubi, James, MD ; Hertel, Paula M., MD ; Karpen, Saul J., MD, PhD ; Loomes, Kathleen M., MD ; Murray, Karen F., MD ; Rosenthal, Philip, MD ; Schwarz, Kathleen B., MD ; Subbarao, Girish, MD ; Teckman, Jeffrey H., MD ; Turmelle, Yumirle P., MD ; Wang, Kasper S., MD ; Sherker, Averell H., MD ; Sokol, Ronald J., MD ; Magee, John C., MDThe Journal of pediatrics, 2015-08, Vol.167 (2), p.390-396.e3 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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2 |
Material Type: Artigo
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Using Online Health Communication to Manage Chronic Sorrow: Mothers of Children with Rare Diseases SpeakGlenn, Adriana D.Journal of pediatric nursing, 2015-01, Vol.30 (1), p.17-24 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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3 |
Material Type: Artigo
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Health Status of Patients With Alagille SyndromeElisofon, Scott A ; Emerick, Karan M ; Sinacore, James M ; Alonso, Estella MJournal of pediatric gastroenterology and nutrition, 2010-12, Vol.51 (6), p.759-765 [Periódico revisado por pares]Hagerstown, MD: Copyright by ESPGHAN and NASPGHANTexto completo disponível |
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4 |
Material Type: Artigo
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Alagille syndrome: pathogenesis, diagnosis and managementTURNPENNY, Peter D ; ELLARD, SianEuropean journal of human genetics : EJHG, 2012-03, Vol.20 (3), p.251-257 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |
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5 |
Material Type: Artigo
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Diagnosis of Alagille Syndrome—25 Years of Experience at King's College HospitalSubramaniam, P ; Knisely, A ; Portmann, B ; Qureshi, SA ; Aclimandos, WA ; Karani, JB ; Baker, AJJournal of pediatric gastroenterology and nutrition, 2011-01, Vol.52 (1), p.84-89 [Periódico revisado por pares]Hagerstown, MD: Copyright by ESPGHAN and NASPGHANTexto completo disponível |
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Material Type: Artigo
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NOTCH2 mutations in Alagille syndromeKamath, Binita Maya ; Bauer, Robert C ; Loomes, Kathleen M ; Chao, Grace ; Gerfen, Jennifer ; Hutchinson, Anne ; Hardikar, Winita ; Hirschfield, Gideon ; Jara, Paloma ; Krantz, Ian D ; Lapunzina, Pablo ; Leonard, Laura ; Ling, Simon ; Ng, Vicky Lee ; Hoang, Phuc Le ; Piccoli, David A ; Spinner, Nancy BettinaJournal of medical genetics, 2012-02, Vol.49 (2), p.138-144 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Medical Management of Alagille SyndromeKamath, Binita M ; Loomes, Kathleen M ; Piccoli, David AJournal of pediatric gastroenterology and nutrition, 2010-06, Vol.50 (6), p.580-586 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & Wilkins, IncTexto completo disponível |
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8 |
Material Type: Artigo
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Management of Cholestatic Pruritus in Paediatric Patients With Alagille Syndrome: The Kingʼs College Hospital ExperienceKronsten, Victoria ; Fitzpatrick, Emer ; Baker, AlastairJournal of pediatric gastroenterology and nutrition, 2013-08, Vol.57 (2), p.149-154 [Periódico revisado por pares]Hagerstown, MD: by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric GastroenterologyTexto completo disponível |
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9 |
Material Type: Artigo
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Comprehensive genotype–phenotype analysis in 230 patients with tetralogy of FallotRauch, Ralf ; Hofbeck, Michael ; Zweier, Christiane ; Koch, Andreas ; Zink, Stefan ; Trautmann, Udo ; Hoyer, Juliane ; Kaulitz, Renate ; Singer, Helmut ; Rauch, AnitaJournal of medical genetics, 2010-05, Vol.47 (5), p.321-331 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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10 |
Material Type: Artigo
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JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndromeGuegan, K ; Stals, K ; Day, M ; Turnpenny, P ; Ellard, SClinical genetics, 2012-07, Vol.82 (1), p.33-40 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |