Concepedia

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

Zafar Iqbal, Lucia Püttmann, Luciana Musante, Attia Razzaq, Muhammad Yasir Zahoor, Hao Hu, Thomas F. Wienker, Masoud Garshasbi, Zohreh Fattahi, Christian Gilissen,

European Journal of Human Genetics · 2015 · 24 citations · 23 references

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Primer3 on the WWW for General Users and for Biologist Programmers

Steve Rozen, Helen Skaletsky · Humana Press eBooks · 2003 · 15.1K citations

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Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

Hanka Venselaar, Tim AH te Beek, Remko Kuipers et al. · BMC Bioinformatics · 2010 · 1.2K citations · Full text

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Comprehensive Human Genetic Maps: Individual and Sex-Specific Variation in Recombination

Karl W. Broman, Jeffrey C. Murray, Val C. Sheffield et al. · The American Journal of Human Genetics · 1998 · 1.1K citations · Full text

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Hossein Najmabadi, Hao Hu, Masoud Garshasbi et al. · Nature · 2011 · 987 citations

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A de novo paradigm for mental retardation

Lisenka E.L.M. Vissers, Joep de Ligt, Christian Gilissen et al. · Nature Genetics · 2010 · 854 citations

, , +12