Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

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Gonçalo R. Abecasis, Stacey S. Cherny, William Cookson et al. · Nature Genetics · 2001 · 3.4K citations

Life Sciences, Bioinformatics, Genetics +15

Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome

Raymonda Varon, Christine Vissinga, Matthias Platzer et al. · Cell · 1998 · 1.1K citations · Full text

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Immunochemistry on ultrathin frozen sections

K. T. Tokuyasu · The Histochemical Journal · 1980 · 754 citations

Medicine, Immunology, Pathology +7

Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement

Martin Konrad, André Schaller, Dominik Seelow et al. · The American Journal of Human Genetics · 2006 · 522 citations · Full text

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Disruption of a long-range cis-acting regulator for <i>Shh</i> causes preaxial polydactyly

Laura A. Lettice, Simon J. H. Heaney, Marijke J. van Baren et al. · Proceedings of the National Academy of Sciences · 2002 · 457 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10