Martin Konrad

机构：University Hospital Münster · ORCID：0000-0002-6533-092X

发表论文 12 篇 · 总被引 581 次 · h-index 7

代表论文

• Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes [published erratum appears in Hum Mol Genet 1997 Apr;6(4):650] (1997 · Human Molecular Genetics · 被引 191)
• Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis (1996 · Human Molecular Genetics · 被引 142)
• Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene (2000 · European Journal of Human Genetics · 被引 97)
• Prenatal and Postnatal Management of Hyperprostaglandin E Syndrome After Genetic Diagnosis From Amniocytes (1999 · PEDIATRICS · 被引 57)
• Evaluation of long-term treatment with indomethacin in hereditary hypokalemic salt-losing tubulopathies (2001 · The Journal of Pediatrics · 被引 43)
• Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31 (2000 · Nephrology Dialysis Transplantation · 被引 26)