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zadetkov: 118
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  • The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations
    Janecke, Andreas R; Li, Ben; Boehm, Manfred ... American journal of medical genetics. Part A, January 2016, Letnik: 170A, Številka: 1
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    The musculocontractural type of Ehlers-Danlos syndrome (MC-EDS) has been recently recognized as a clinical entity. MC-EDS represents a differential diagnosis within the congenital neuromuscular and ...
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  • Reduced sodium/proton excha... Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea
    Janecke, Andreas R; Heinz-Erian, Peter; Yin, Jianyi ... Human molecular genetics, 12/2015, Letnik: 24, Številka: 23
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    Congenital sodium diarrhea (CSD) refers to an intractable diarrhea of intrauterine onset with high fecal sodium loss. CSD is clinically and genetically heterogeneous. Syndromic CSD is caused by ...
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  • Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C
    Müller, Thomas; Rasool, Insha; Heinz-Erian, Peter ... Gut, 08/2016, Letnik: 65, Številka: 8
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    Congenital sodium diarrhoea (CSD) refers to a form of secretory diarrhoea with intrauterine onset and high faecal losses of sodium without congenital malformations. The molecular basis for CSD ...
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  • Early Clinical Diagnosis of PC1/3 Deficiency in a Patient With a Novel Homozygous PCSK1 Splice-Site Mutation
    Härter, Bettina; Fuchs, Irene; Müller, Thomas ... Journal of pediatric gastroenterology and nutrition, 2016-April, Letnik: 62, Številka: 4
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    Autosomal recessive proprotein convertase 1/3 (PC1/3) deficiency, caused by mutations in the PCSK1 gene, is characterized by severe congenital malabsorptive diarrhea, early-onset obesity, and certain ...
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  • Strategies for high retenti... Strategies for high retention rates of low-income families in FAST (Families and Schools Together): An evidence-based parenting programme in the USA, UK, Holland and Germany
    McDonald, Lynn; FitzRoy, Sarah; Fuchs, Irene ... European journal of developmental psychology, 20/1/1/, Letnik: 9, Številka: 1
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    This article describes strategies of an evidence-based parenting programme, Families and Schools Together (FAST), which has a track record for retaining low-income families. FAST multi-family groups ...
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  • Flagellin induces myeloid-derived suppressor cells: implications for Pseudomonas aeruginosa infection in cystic fibrosis lung disease
    Rieber, Nikolaus; Brand, Alina; Hector, Andreas ... The Journal of immunology (1950), 2013-Feb-01, Letnik: 190, Številka: 3
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    Pseudomonas aeruginosa persists in patients with cystic fibrosis (CF) and drives CF lung disease progression. P. aeruginosa potently activates the innate immune system, mainly mediated through ...
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zadetkov: 118

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