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3. Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait. Issue 2 (1st June 2020)

4. LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency. Issue 3 (25th January 2011)

9. Plasma cystatin C is a marker of renal glomerular injury in children treated with cisplatin or ifosfamide. Issue 1 (15th October 2020)