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Results: 3
Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta
Authors: Lapunzina, Pablo Aglan, Mona Temtamy, Samia Caparrós-Martín, José A. Ruiz-Perez, Victor L.
Citation: Lapunzina, Pablo et al., Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 110-114
Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome
Authors: Shaheen, Ranad Aglan, Mona Keppler-Noreuil, Kim
Citation: Shaheen, Ranad et al., Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome, American journal of human genetics (Online) AJHG , 92(4), 2013, pp. 598-604
Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling
Authors: Li, Yun Laue, Kathrin Temtamy, Samia Aglan, Mona Wollnik, Bernd
Citation: Li, Yun et al., Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling, American journal of human genetics (Online) AJHG , 87(6), 2010, pp. 757-767
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