Concepedia

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

Zafar Iqbal, Mohsin Shahzad, Lisenka E.L.M. Vissers, Monique van Scherpenzeel, Christian Gilissen, Attia Razzaq, Muhammad Yasir Zahoor, Shaheen N. Khan, Tjitske Kleefstra, Joris A. Veltman,

European Journal of Human Genetics · 2012 · 30 citations · 22 references

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22

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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SIFT: predicting amino acid changes that affect protein function

P.C. Ng · Nucleic Acids Research · 2003 · 6.9K citations · Full text

, , +17

Functional annotations improve the predictive score of human disease-related mutations in proteins

Remo Calabrese, Emidio Capriotti, Piero Fariselli et al. · Human Mutation · 2009 · 716 citations · Full text

, , +17

A Robust Algorithm for Copy Number Detection Using High-Density Oligonucleotide Single Nucleotide Polymorphism Genotyping Arrays

Yasuhito Nannya, Masashi Sanada, Kumi Nakazaki et al. · Cancer Research · 2005 · 642 citations · Full text

, , +17

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

Jacob I. Grimberg, S. Nawoschik, Leonardo Belluscio et al. · Nucleic Acids Research · 1989 · 518 citations · Full text

, , +15