Shwachman-Diamond syndrome: report from an international conference.
about
The Shwachman-Diamond SBDS protein localizes to the nucleolusA pediatric genetic disorder diagnosed in adulthood.Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis.Current diagnosis of inherited bone marrow failure syndromes.Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-beta.Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data.Shwachman-Diamond syndrome: diarrhea, no longer required?The role of telomere biology in bone marrow failure and other disordersErythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.Molecular diagnosis of shwachman-diamond syndrome presenting with pancytopenia at an early age: the first report from TurkeyTERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.Pathophysiology and management of inherited bone marrow failure syndromes.Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.Successful unrelated umbilical cord blood transplantation in children with Shwachman-Diamond syndrome.Prevalence of oral diseases in Shwachman-Diamond syndrome
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P2860
Shwachman-Diamond syndrome: report from an international conference.
description
2002 nî lūn-bûn
@nan
2002 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Shwachman-Diamond syndrome: report from an international conference.
@ast
Shwachman-Diamond syndrome: report from an international conference.
@en
Shwachman-Diamond syndrome: report from an international conference.
@nl
type
label
Shwachman-Diamond syndrome: report from an international conference.
@ast
Shwachman-Diamond syndrome: report from an international conference.
@en
Shwachman-Diamond syndrome: report from an international conference.
@nl
prefLabel
Shwachman-Diamond syndrome: report from an international conference.
@ast
Shwachman-Diamond syndrome: report from an international conference.
@en
Shwachman-Diamond syndrome: report from an international conference.
@nl
P2093
P356
P1476
Shwachman-Diamond syndrome: report from an international conference.
@en
P2093
Adrianna Vlachos
Blanche P Alter
Jean Perrault
Johanna Rommens
M Tarek Elghetany
Marco Cipolli
Peter Durie
Richard Grand
Robert Rothbaum
Susan Burroughs
P304
P356
10.1067/MPD.2002.125850
P407
P577
2002-08-01T00:00:00Z