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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Nov 8, 2024. (Total: 233355Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Synostosis and SMAD6[original query]
SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis.
Genetics in medicine : official journal of the American College of Medical Genetics 2019 May .
Yang Yongjia, Zheng Yu, Li Wangming, Li Liping, Tu Ming, Zhao Liu, Mei Haibo, Zhu Guanghui, Zhu Yim
SMAD6 Genotype Predicts Neurodevelopment in Nonsyndromic Craniosynostosis.
Plastic and reconstructive surgery 2019 10 145 (1): 117e-125e.
Wu Robin T, Timberlake Andrew T, Abraham Paul F, Gabrick Kyle S, Lu Xiaona, Peck Connor J, Sawh-Martinez Rajendra F, Steinbacher Derek M, Alperovich Michael A, Persing John
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun .
Calpena Eduardo, Cuellar Araceli, Bala Krithi, Swagemakers Sigrid M A, Koelling Nils, McGowan Simon J, Phipps Julie M, Balasubramanian Meena, Cunningham Michael L, Douzgou Sofia, Lattanzi Wanda, Morton Jenny E V, Shears Deborah, Weber Astrid, Wilson Louise C, Lord Helen, Lester Tracy, Johnson David, Wall Steven A, Twigg Stephen R F, Mathijssen Irene M J, Boardman-Pretty Freya, , Boyadjiev Simeon A, Wilkie Andrew O
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