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Quality of Life and Its Determinants in a Multicenter Cohort of Children with Alagille Syndrome
Quality of Life and Its Determinants in a Multicenter Cohort of Children with Alagille Syndrome
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Quality of Life and Its Determinants in a Multicenter Cohort of Children with Alagille Syndrome

Kamath, 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., MD

The Journal of pediatrics, 2015-08, Vol.167 (2), p.390-396.e3 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Using Online Health Communication to Manage Chronic Sorrow: Mothers of Children with Rare Diseases Speak
Using Online Health Communication to Manage Chronic Sorrow: Mothers of Children with Rare Diseases Speak
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Using Online Health Communication to Manage Chronic Sorrow: Mothers of Children with Rare Diseases Speak

Glenn, Adriana D.

Journal of pediatric nursing, 2015-01, Vol.30 (1), p.17-24 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Health Status of Patients With Alagille Syndrome
Health Status of Patients With Alagille Syndrome
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Health Status of Patients With Alagille Syndrome

Elisofon, Scott A ; Emerick, Karan M ; Sinacore, James M ; Alonso, Estella M

Journal of pediatric gastroenterology and nutrition, 2010-12, Vol.51 (6), p.759-765 [Periódico revisado por pares]

Hagerstown, MD: Copyright by ESPGHAN and NASPGHAN

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4
Alagille syndrome: pathogenesis, diagnosis and management
Alagille syndrome: pathogenesis, diagnosis and management
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Alagille syndrome: pathogenesis, diagnosis and management

TURNPENNY, Peter D ; ELLARD, Sian

European journal of human genetics : EJHG, 2012-03, Vol.20 (3), p.251-257 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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5
Diagnosis of Alagille Syndrome—25 Years of Experience at King's College Hospital
Diagnosis of Alagille Syndrome—25 Years of Experience at King's College Hospital
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Diagnosis of Alagille Syndrome—25 Years of Experience at King's College Hospital

Subramaniam, P ; Knisely, A ; Portmann, B ; Qureshi, SA ; Aclimandos, WA ; Karani, JB ; Baker, AJ

Journal of pediatric gastroenterology and nutrition, 2011-01, Vol.52 (1), p.84-89 [Periódico revisado por pares]

Hagerstown, MD: Copyright by ESPGHAN and NASPGHAN

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6
NOTCH2 mutations in Alagille syndrome
NOTCH2 mutations in Alagille syndrome
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NOTCH2 mutations in Alagille syndrome

Kamath, 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 Bettina

Journal of medical genetics, 2012-02, Vol.49 (2), p.138-144 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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7
Medical Management of Alagille Syndrome
Medical Management of Alagille Syndrome
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Medical Management of Alagille Syndrome

Kamath, Binita M ; Loomes, Kathleen M ; Piccoli, David A

Journal of pediatric gastroenterology and nutrition, 2010-06, Vol.50 (6), p.580-586 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins, Inc

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8
Management of Cholestatic Pruritus in Paediatric Patients With Alagille Syndrome: The Kingʼs College Hospital Experience
Management of Cholestatic Pruritus in Paediatric Patients With Alagille Syndrome: The Kingʼs College Hospital Experience
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Management of Cholestatic Pruritus in Paediatric Patients With Alagille Syndrome: The Kingʼs College Hospital Experience

Kronsten, Victoria ; Fitzpatrick, Emer ; Baker, Alastair

Journal 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 Gastroenterology

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9
Comprehensive genotype–phenotype analysis in 230 patients with tetralogy of Fallot
Comprehensive genotype–phenotype analysis in 230 patients with tetralogy of Fallot
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Comprehensive genotype–phenotype analysis in 230 patients with tetralogy of Fallot

Rauch, Ralf ; Hofbeck, Michael ; Zweier, Christiane ; Koch, Andreas ; Zink, Stefan ; Trautmann, Udo ; Hoyer, Juliane ; Kaulitz, Renate ; Singer, Helmut ; Rauch, Anita

Journal of medical genetics, 2010-05, Vol.47 (5), p.321-331 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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10
JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome
JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome
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JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome

Guegan, K ; Stals, K ; Day, M ; Turnpenny, P ; Ellard, S

Clinical genetics, 2012-07, Vol.82 (1), p.33-40 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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