✦ LIBER ✦

Hyperphenylalaninemia in the Czech Republic: Genotype–phenotype correlations and in silico analysis of novel missense mutations

✍ Scribed by Réblová, Kamila; Hrubá, Zuzana; Procházková, Dagmar; Pazdírková, Renata; Pouchlá, Slávka; Fajkusová, Lenka

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Corrigendum to “Hyperphenylalaninemia in

✍ Réblová, Kamila; Hrubá, Zuzana; Procházková, Dagmar; Pazdírková, Renata; Pouchlá 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 163 KB

Genotype-Phenotype Correlations Emerging

✍ Bornholdt, Dorothea; Atkinson, T. Prescott; Bouadjar, Bakar; Catteau, Benoit; Co 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 446 KB

The molecular basis of familial hypercho

✍ Lukáš Tichý; Tomáš Freiberger; Petra Zapletalová; Vladimír Soška; Barbora Ravčuk 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 172 KB

Functional analysis of RUNX2 mutations i

✍ Taketoshi Yoshida; Hirokazu Kanegane; Motomi Osato; Masatoshi Yanagida; Toshio M 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 377 KB

Genotype–phenotype correlations analysis

✍ Dani Bercovich; Arava Elimelech; Joel Zlotogora; Sigal Korem; Tal Yardeni; Nurit 📂 Article 📅 2008 🏛 Nature Publishing Group 🌐 English ⚖ 236 KB

EXOSC3mutations in pontocerebellar hypop

✍ Eggens, Veerle RC; Barth, Peter G; Niermeijer, Jikke-Mien F; Berg, Jonathan N; D 📂 Article 📅 2014 🏛 BioMed Central 🌐 English ⚖ 373 KB