Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.
about
Exploring the metabolic syndrome: Nonalcoholic fatty pancreas diseaseInherited bone marrow failure syndromes in adolescents and young adults.Genetic predisposition syndromes: when should they be considered in the work-up of MDS?Neonatal manifestations of inherited bone marrow failure syndromes.Marrow failure: a window into ribosome biologyGenomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexityTelomere length in inherited bone marrow failure syndromesDeficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes.The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data.Current insights into the diagnosis and treatment of inherited bone marrow failure syndromes in China.Current insights into inherited bone marrow failure syndromesGenetic predisposition to hematologic malignancies: management and surveillance.Aplastic anemia and clonal evolution: germ line and somatic genetics.How I manage children with neutropenia.Pancreatic Disorders.Severe congenital neutropenias.Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins.Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation.Short stature: an ordinary sign for an unordinary diagnosis.Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient.Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.Introduction and practical approach to exocrine pancreatic insufficiency for the practicing clinician.Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.Inherited bone marrow failure syndromes: considerations pre- and posttransplant.The Clinical Implications of Fatty Pancreas: A Concise Review.Further evidence for the involvement of in a Shwachman-Diamond-like syndrome and expansion of the phenotypic featuresFanconi anemia in 55-year-old identical twins first presenting as fatal post-chemotherapy pancytopenia
P2860
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P2860
Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.
description
2013 nî lūn-bûn
@nan
2013 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Variable clinical presentation ...... man-Diamond Syndrome Registry.
@ast
Variable clinical presentation ...... man-Diamond Syndrome Registry.
@en
type
label
Variable clinical presentation ...... man-Diamond Syndrome Registry.
@ast
Variable clinical presentation ...... man-Diamond Syndrome Registry.
@en
prefLabel
Variable clinical presentation ...... man-Diamond Syndrome Registry.
@ast
Variable clinical presentation ...... man-Diamond Syndrome Registry.
@en
P2093
P2860
P1476
Variable clinical presentation ...... man-Diamond Syndrome Registry.
@en
P2093
Akiko Shimamura
Amanda T Jones
Audrey Anna Bolyard
Barbara Otto
David C Dale
Kasiani C Myers
Richard E Harris
Stella M Davies
Trisha E Wong
P2860
P304
P356
10.1016/J.JPEDS.2013.11.039
P407
P577
2013-12-31T00:00:00Z