E Seemanová

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

Life Sciences, Genetics, Molecular Biology +10

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Eva Klopocki, Harald Schulze, Gabriele Strauß et al. · The American Journal of Human Genetics · 2007 · 369 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

A restricted spectrum of NRAS mutations causes Noonan syndrome

Ion Cristian Cirstea, Kerstin Kutsche, Radovan Dvorský et al. · Nature Genetics · 2009 · 317 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

Lionel Van Maldergem, J. Magre, T. E. Khallouf et al. · Journal of Medical Genetics · 2002 · 249 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

Kristiina Avela, Marita Lipsanen‐Nyman, Niina Idänheimo et al. · Nature Genetics · 2000 · 189 citations

Life Sciences, Genetics, Molecular Genetics +7