Concepedia

Mutations in LRPAP1 Are Associated with Severe Myopia in Humans

Mohammed A. Aldahmesh, Arif O. Khan, Hisham Alkuraya, Nouran Adly, Shamsa Anazi, Ahmed A. Al-Saleh, Jawahir Y. Mohamed, Hadia Hijazi, Sarita Prabakaran, Marlene Tacke,

The American Journal of Human Genetics · 2013 · 128 citations · 38 references

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38

The revised Ghent nosology for the Marfan syndrome: Table 1

Bart Loeys, Harry C. Dietz, Alan C. Braverman et al. · Journal of Medical Genetics · 2010 · 2.2K citations · Full text

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MEROPS: the peptidase database

Neil D. Rawlings, A. John Barrett, Alex Bateman · Nucleic Acids Research · 2009 · 987 citations · Full text

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Common Genetic Variation and Human Traits

David B. Goldstein · New England Journal of Medicine · 2009 · 931 citations

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Angiotensin II Blockade and Aortic-Root Dilation in Marfan's Syndrome

Benjamin S. Brooke, Jennifer Habashi, Daniel P. Judge et al. · New England Journal of Medicine · 2008 · 841 citations · Full text

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Heterozygous TGFBR2 mutations in Marfan syndrome

Takeshi Mizuguchi, Gwenaëlle Collod‐Béroud, Takushi Akiyama et al. · Nature Genetics · 2004 · 616 citations · Full text

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