Concepedia

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

Elizabeth Pöhler, Ons Mamaï, Jennifer Hirst, M. Zamiri, H. M. Horn, Toshifumi Nomura, Alan D. Irvine, Benvon Moran, Neil Wilson, Frances J.D. Smith,

Nature Genetics · 2012 · 86 citations · 25 references

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25

Normal keratinization in a spontaneously immortalized aneuploid human keratinocyte cell line.

Petra Boukamp, R T Petrussevska, Dirk Breitkreutz et al. · The Journal of Cell Biology · 1988 · 4.2K citations · Full text

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Faster sequential genetic linkage computations.

Robert W. Cottingham, Ramana M. Idury, Alejandro A. Schäffer · PubMed · 1993 · 1.4K citations

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Autophosphorylation sites on the epidermal growth factor receptor

Julian Downward, Peter J. Parker, Michael D. Waterfield · Nature · 1984 · 722 citations

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Avoiding Recomputation in Linkage Analysis

Alejandro A. Sch auml ffer, Sandeep Gupta, Kartheek Medhavi Penagamuri Shriram et al. · Human Heredity · 1994 · 673 citations

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Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome

Paul Gissen, Colin A. Johnson, Neil V. Morgan et al. · Nature Genetics · 2004 · 339 citations

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