Results 141 to 150 of about 2,538 (190)

Comparative pathogenicity of goose parvovirus across different epidemic lineages in ducklings and goslings. [PDF]

Virulence
Lu X, Xu Q, Cai M, Li M, Wang X, Wang Y, Yang W, Liu K, Gao R, Chen Y, Hu J, Gu M, Hu S, Liu X, Liu X.   +14 more
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Integrated proteogenomic analysis for inherited bone marrow failure syndrome. [PDF]

Leukemia
Wakamatsu M, Muramatsu H, Sato H, Ishikawa M, Konno R, Nakajima D, Hamada M, Okuno Y, Kawashima Y, Hama A, Ito M, Iwafuchi H, Takahashi Y, Ohara O.   +13 more
europepmc   +1 more source

From Challenge to Opportunity: How Shwachman-Diamond Syndrome Became a Promising Target for Therapy Development. [PDF]

Clin Pharmacol Ther
Hars ES, McReynolds LJ.
europepmc   +1 more source

A SBD e a perspectiva futura de progresso científico SBD and the future perspective for scientific progress

Anais Brasileiros de Dermatologia, 2002
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Ataluren Treatment Improves Hematopoietic and Pancreatic Disorders in Patients with Shwachman-Diamond Syndrome

Cipolli M, Bezzerri V, Pegoraro A, Hristodor A, Crane G, Meneghelli I, Brignole C, Boni C, Baldisseri E, Vella A, Menichetti G, Valli R, Porta G, D'Amico G, Tecchio C, Parisi A, Lippi G, Cesaro S, Corey S.   +18 more
europepmc   +1 more source

Findings from evaluating Secured by Design (SBD) [PDF]

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Mutations in SBDS are associated with Shwachman–Diamond syndrome

Nature Genetics, 2002
Shwachman-Diamond syndrome (SDS; OMIM 260400) is an autosomal recessive disorder with clinical features that include pancreatic exocrine insufficiency, hematological dysfunction and skeletal abnormalities. Here, we report identification of disease-associated mutations in an uncharacterized gene, SBDS, in the interval of 1.9 cM at 7q11 previously shown ...
Johanna M Rommens
exaly   +3 more sources