Pages that link to "Q34301097"

The following pages link to Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. (Q34301097):

Displaying 43 items.

• Evolutionary comparison provides evidence for pathogenicity of RMRP mutations (Q21145279) (← links)
• Shwachman-Diamond syndrome is associated with low-turnover osteoporosis (Q24296683) (← links)
• The Shwachman-Diamond SBDS protein localizes to the nucleolus (Q24300969) (← links)
• The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type (Q24648038) (← links)
• A pediatric genetic disorder diagnosed in adulthood (Q25255946) (← links)
• Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality (Q28590641) (← links)
• Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome (Q33400681) (← links)
• Inherited bone marrow failure syndromes in adolescents and young adults (Q33415672) (← links)
• Neonatal manifestations of inherited bone marrow failure syndromes (Q33428864) (← links)
• Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses (Q33482089) (← links)
• Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders (Q33609691) (← links)
• The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment. (Q33781943) (← links)
• SBDS protein expression patterns in the bone marrow. (Q34034874) (← links)
• Phylogeny, sequence conservation, and functional complementation of the SBDS protein family (Q34501225) (← links)
• Joint eQTL assessment of whole blood and dura mater tissue from individuals with Chiari type I malformation. (Q35127850) (← links)
• In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency (Q35658181) (← links)
• BLM helicase facilitates RNA polymerase I-mediated ribosomal RNA transcription (Q35750236) (← links)
• Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential (Q36007604) (← links)
• Shwachman-Diamond syndrome: UK perspective (Q36153055) (← links)
• Erythrocyte disorders in the perinatal period (Q36175308) (← links)
• 5. Mechanisms of disordered granulopoiesis in congenital neutropenia (Q36543836) (← links)
• Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment (Q37425409) (← links)
• Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome (Q37970727) (← links)
• Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update (Q38076884) (← links)
• Shwachman-Bodian-Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia (Q38270528) (← links)
• Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome (Q39097198) (← links)
• Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene. (Q39461796) (← links)
• Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome (Q39486271) (← links)
• Radiosensitivity in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients (Q41077677) (← links)
• Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome. (Q41596331) (← links)
• Short stature: an ordinary sign for an unordinary diagnosis (Q42339320) (← links)
• Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome (Q43644228) (← links)
• A zebrafish model for the Shwachman-Diamond syndrome (SDS). (Q45772334) (← links)
• Successful unrelated umbilical cord blood transplantation in children with Shwachman-Diamond syndrome (Q46661648) (← links)
• A clinical algorithm predicts hematological complications in Shwachman-Diamond syndrome? (Q51321750) (← links)
• Sixth International Congress on Shwachman-Diamond syndrome: from patients to genes and back. (Q53139289) (← links)
• Prevalence of oral diseases in Shwachman-Diamond syndrome (Q57986739) (← links)
• Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives (Q58567833) (← links)
• Peering through zebrafish to understand inherited bone marrow failure syndromes (Q60922696) (← links)
• Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0-8 years old (Q61813906) (← links)
• Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan (Q79987799) (← links)
• Shwachman-Diamond syndrome (Q83141456) (← links)
• Disruption in iron homeostasis and impaired activity of iron-sulfur cluster containing proteins in the yeast model of Shwachman-Diamond syndrome (Q99565707) (← links)