Found: 23
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Treatment of transfusion‐dependent congenital dyserythropoietic anemia Type I patients with pegylated interferon alpha‐2a.
- Published in:
- European Journal of Haematology, 2020, v. 105, n. 2, p. 216, doi. 10.1111/ejh.13428
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- Publication type:
- Article
A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I.
- Published in:
- Annals of Human Genetics, 2019, v. 83, n. 5, p. 361, doi. 10.1111/ahg.12317
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- Publication type:
- Article
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 1, p. 133, doi. 10.1093/hmg/ddy334
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- Publication type:
- Article
Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis.
- Published in:
- European Journal of Haematology, 2017, v. 99, n. 4, p. 366, doi. 10.1111/ejh.12931
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- Publication type:
- Article
SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I.
- Published in:
- European Journal of Haematology, 2017, v. 98, n. 1, p. 13, doi. 10.1111/ejh.12778
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- Publication type:
- Article
A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia.
- Published in:
- European Journal of Haematology, 2013, v. 90, n. 2, p. 127, doi. 10.1111/ejh.12047
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- Publication type:
- Article
High levels of soluble serum hemojuvelin in patients with congenital dyserythropoietic anemia type I.
- Published in:
- European Journal of Haematology, 2013, v. 90, n. 1, p. 31, doi. 10.1111/ejh.12027
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- Publication type:
- Article
Urine metabolomics reveals novel physiologic functions of human aldehyde oxidase and provides biomarkers for typing xanthinuria.
- Published in:
- Metabolomics, 2012, v. 8, n. 5, p. 951, doi. 10.1007/s11306-011-0391-3
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- Publication type:
- Article
Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.
- Published in:
- Nephrology Dialysis Transplantation, 2012, v. 27, n. 3, p. 1035, doi. 10.1093/ndt/gfr419
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- Publication type:
- Article
Inherited renal tubular dysgenesis may not be universally fatal.
- Published in:
- 2010
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- Publication type:
- Case Study
Pregnancy outcome in congenital dyserythropoietic anemia type I.
- Published in:
- European Journal of Haematology, 2008, v. 81, n. 4, p. 317, doi. 10.1111/j.1600-0609.2008.01109.x
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- Publication type:
- Article
Familial steroid-sensitive nephrotic syndrome in Southern Israel: clinical and genetic observations.
- Published in:
- Pediatric Nephrology, 2007, v. 22, n. 5, p. 661, doi. 10.1007/s00467-006-0409-7
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- Publication type:
- Article
Familial steroid-sensitive nephrotic syndrome in Southern Israel: clinical and genetic observations.
- Published in:
- 2007
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- Publication type:
- Correction notice
Transient severe metastatic calcification in acute renal failure.
- Published in:
- 2007
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- Publication type:
- Report
Hypocholesterolemia in chronic anemias with increased erythropoietic activity.
- Published in:
- American Journal of Hematology, 2007, v. 82, n. 3, p. 199, doi. 10.1002/ajh.20804
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- Publication type:
- Article
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
- Published in:
- Annals of Neurology, 2006, v. 60, n. 2, p. 214
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- Publication type:
- Article
Genetic kidney diseases in the pediatric population of southern Israel.
- Published in:
- Pediatric Nephrology, 2006, v. 21, n. 7, p. 910, doi. 10.1007/s00467-006-0142-2
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- Publication type:
- Article
Bladder function impairment in aquaporin-2 defective nephrogenic diabetes insipidus.
- Published in:
- Nephrology Dialysis Transplantation, 2004, v. 19, n. 3, p. 608, doi. 10.1093/ndt/gfg574
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- Publication type:
- Article
CATSPER2, a human autosomal nonsyndromic male infertility gene.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 7, p. 497, doi. 10.1038/sj.ejhg.5200991
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- Publication type:
- Article
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia.
- Published in:
- Nature Genetics, 2002, v. 31, n. 2, p. 171, doi. 10.1038/ng901
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- Publication type:
- Article
Prenatal diagnosis of malignant osteopetrosis in Bedouin families by linkage analysis.
- Published in:
- Prenatal Diagnosis, 2001, v. 21, n. 3, p. 183, doi. 10.1002/1097-0223(200103)21:3<183::AID-PD28>3.0.CO;2-M
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- Publication type:
- Article
Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H.
- Published in:
- Pediatric Nephrology, 1998, v. 12, n. 8, p. 619, doi. 10.1007/s004670050515
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- Publication type:
- Article