Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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Life Sciences, Genetics, Molecular Genetics +16

Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia

Stefan Mundlos, F Otto, C Mundlos et al. · Cell · 1997 · 1.5K citations · Full text

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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

Erich Roessler, Elena Belloni, Karin Gaudenz et al. · Nature Genetics · 1996 · 1.2K citations

Life Sciences, Genetics, Molecular Genetics +6

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

Bernard Brais, Jean‐Pierre Bouchard, Ya‐Gang Xie et al. · Nature Genetics · 1998 · 798 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Disruption of the Hoxd-13 gene induces localized heterochrony leading to mice with neotenic limbs

Pascal Dollé, Andrée Dierich, Marianne LeMeur et al. · Cell · 1993 · 455 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11