Found: 31
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Fanconi–Bickel syndrome – A congenital defect of the liver-type facilitative glucose transporter.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 191, doi. 10.1023/A:1005379013406
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- Publication type:
- Article
Genetic homogeneity of krill ( Euphausia superba Dana) in the Southern Ocean.
- Published in:
- Polar Biology, 1989, v. 9, n. 8, p. 533, doi. 10.1007/BF00261038
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- Publication type:
- Article
Morphological and electrophoretic studies of the genus Themisto (Amphipoda: Hyperiidea) from the South and North Atlantic.
- Published in:
- Polar Biology, 1986, v. 6, n. 4, p. 215, doi. 10.1007/BF00443398
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- Publication type:
- Article
Electrophoretic investigation of genetic variation in two krill species Euphausia superba and E. crystallorophias (Euphausiidae).
- Published in:
- Polar Biology, 1986, v. 6, n. 1, p. 17, doi. 10.1007/BF00446236
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- Publication type:
- Article
Variability in brain ganglioside composition: A further molecular mechanism beside serum antifreeze-glykoproteins for adaptation to cold in Antarctic and Arctic-boreal fishes.
- Published in:
- Polar Biology, 1984, v. 3, n. 2, p. 119, doi. 10.1007/BF00258155
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- Publication type:
- Article
Genetic variation and population structure of krill ( Euphausia superba) in the Atlantic sector of Antarctic waters and off the Antarctic peninsula.
- Published in:
- Polar Biology, 1984, v. 3, n. 1, p. 19, doi. 10.1007/BF00265563
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- Publication type:
- Article
Freezing-point depressing peptides and glycoproteins from Arctic-boreal and Antarctic fish.
- Published in:
- Polar Biology, 1982, v. 1, n. 2, p. 115, doi. 10.1007/BF00263808
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- Publication type:
- Article
A 2-year-old boy with recurrent severe bleeding: von Willebrand type 2B and ITP - or von Willebrand type 2B alone?
- Published in:
- European Journal of Pediatrics, 1999, v. 158, n. 15, p. S171, doi. 10.1007/PL00014348
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- Publication type:
- Article
A 2-year-old boy with recurrent severe bleeding: von Willebrand type 2B and ITP--or von Willebrand type 2B alone?
- Published in:
- 1999
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- Publication type:
- journal article
Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature.
- Published in:
- 1998
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- Publication type:
- journal article
Arginine[sup 506] to glutamin mutation in the factor V gene in infancy and childhood: evidence of fibrinolytic impairment.
- Published in:
- European Journal of Pediatrics, 1997, v. 156, n. 3, p. 195, doi. 10.1007/s004310050581
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- Publication type:
- Article
Von Willebrand factor cleaving protease and thrombotic microangiopathy.
- Published in:
- 2004
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- Publication type:
- Journal Article
The common deletion 657del5 in the Nibrin gene is not a major risk factor for B or T cell non-Hodgkin lymphoma in a pediatric population.
- Published in:
- 2000
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- Publication type:
- Letter
Glial papillary tumour of the spinal cord with SMARCB1/INI1‐loss and favourable long‐term outcome.
- Published in:
- Neuropathology & Applied Neurobiology, 2018, v. 44, n. 2, p. 229, doi. 10.1111/nan.12395
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- Publication type:
- Article
High-dose chemotherapy (HDCT) with auto-SCT in children with atypical teratoid/rhabdoid tumors (AT/RT): a report from the European Rhabdoid Registry (EU-RHAB).
- Published in:
- Bone Marrow Transplantation, 2014, v. 49, n. 3, p. 370, doi. 10.1038/bmt.2013.208
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- Publication type:
- Article
Successful donor-lymphocyte infusion for extreme immune-hemolysis following unrelated BMT in a patient with X-linked chronic granulomatous disease and McLeod phenotype.
- Published in:
- 2008
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- Publication type:
- Letter
Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 945, doi. 10.1007/s10545-005-0184-9
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- Publication type:
- Article
Laboratory signs of activated coagulation are common in Henoch-Schönlein purpura.
- Published in:
- Pediatric Nephrology, 2001, v. 16, n. 12, p. 1084, doi. 10.1007/s004670100033
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- Publication type:
- Article
Identification of novel NOTCH1 mutations: Increasing our knowledge of the NOTCH signaling pathway.
- Published in:
- Pediatric Blood & Cancer, 2014, v. 61, n. 5, p. 788, doi. 10.1002/pbc.24852
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- Publication type:
- Article
Gene conversions are a common cause of von Willebrand disease.
- Published in:
- British Journal of Haematology, 2005, v. 130, n. 5, p. 752, doi. 10.1111/j.1365-2141.2005.05660.x
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- Publication type:
- Article
HOMOZYGOUS FACTOR V LEIDEN MUTATION IN SICKLE CELL ANAEMIA.
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- British Journal of Haematology, 2002, v. 116, n. 1, p. 236, doi. 10.1046/j.1365-2141.2002.3242_1.x
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- Publication type:
- Article
Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease.
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- Haemophilia, 2014, v. 20, n. 4, p. e311, doi. 10.1111/hae.12441
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- Publication type:
- Article
Phenotypic and genotypic characterization of 10 Finnish patients with von Willebrand disease type 3: discovery of two main mutations.
- Published in:
- Haemophilia, 2013, v. 19, n. 6, p. e344, doi. 10.1111/hae.12225
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- Publication type:
- Article
Identification of a homozygous Cys410Ser mutation in the von Willebrand factor D2 domain causing type 2A( IIC) von Willebrand disease phenotype in an Iranian patient.
- Published in:
- Haemophilia, 2013, v. 19, n. 4, p. e261, doi. 10.1111/hae.12161
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- Publication type:
- Article
A comparison between two semi-quantitative bleeding scales for the diagnosis and assessment of bleeding severity in type 1 von Willebrand disease.
- Published in:
- Haemophilia, 2011, v. 17, n. 1, p. 165, doi. 10.1111/j.1365-2516.2010.02381.x
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- Publication type:
- Article
Severe bleeding diathesis associated with moderate thrombocytopenia - diagnostic workup of seven family members with type 2B von Willebrand's disease LETTER TO THE EDITOR.
- Published in:
- Haemophilia, 2010, v. 16, n. 6, p. 958, doi. 10.1111/j.1365-2516.2010.02279.x
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- Publication type:
- Article
Pancytopenia in a 4-year-old boy. 22q11.2 microdeletion syndrome.
- Published in:
- 2009
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- Publication type:
- Journal Article
Remission of thrombotic thrombocytopenic purpura in a patient with compound heterozygous deficiency of von Willebrand factor-cleaving protease by infusion of solvent/detergent plasma.
- Published in:
- 2002
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- Publication type:
- journal article
Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
- Published in:
- Human Mutation, 2000, v. 16, n. 2, p. 177, doi. 10.1002/1098-1004(200008)16:2<177::AID-HUMU13>3.0.CO;2-8
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- Publication type:
- Article
Von-Willebrand- und Upshaw-Schulman-Syndrom.
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- Medizinische Genetik, 2008, v. 20, n. 2, p. 197, doi. 10.1007/s11825-008-0106-y
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- Publication type:
- Article
Resistance to activated protein C (APCR) in children with venous or arterial thromboembolism.
- Published in:
- British Journal of Haematology, 1996, v. 92, n. 4, p. 992, doi. 10.1046/j.1365-2141.1996.424957.x
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- Publication type:
- Article