Identification and molecular characterisation of Lausanne Institutional Biobank participants with familial hypercholesterolaemia - a proof-of-concept study von Maurer, Fabienne, Pradervand, Sylvain, Guilleret, Isabelle, Nanchen, David, Maghraoui, Ali, Chapatte, Laurence, Bojkowska, Karolina, Bhuiyan, Zahurul Alam, Jacquemont, Nathalie, Harshman, Keith, Mooser, Vincent

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A novel homozygous ALMS1 protein truncation mutation (c.2938dupA) revealed variable clinical expression among Saudi Alström syndrome patients von Bdier, Amnah Yousuf, Al-Qahtani, Faten Abdullah, Kumar Verma, Prashant, Alshoaibi, Naeem Abdulmoneem, Mohammed Alrayes, Nuha, Shaik, Noor Ahmad, Foo, Roger Sik Yin, Bhuiyan, Zahurul Alam, Al-Aama, Jumana Y.

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An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants von Fellmann, Florence, Saunders, Carol, O'Donohue, Marie-Françoise, Reid, David W, McFadden, Kelsey A, Montel-Lehry, Nathalie, Yu, Cong, Fang, Mingyan, Zhang, Jianguo, Royer-Bertrand, Beryl, Farinelli, Pietro, Karboul, Narjesse, Willer, Jason R, Fievet, Lorraine, Bhuiyan, Zahurul Alam, Kleinhenz, Alissa Lw, Jadeau, Julie, Fulbright, Joy, Rivolta, Carlo, Renella, Raffaele, Katsanis, Nicholas, Beckmann, Jacques S, Nicchitta, Christopher V, Da Costa, Lydie, Davis, Erica E, Gleizes, Pierre-Emmanuel

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Genetic analysis of cardiac SCN5A Gene in Iranian patients with hereditary cardiac arrhythmias von Asadi, Marzi, Foo, Roger, Bhuiyan, Zahurul Alam, Samienasab, Mohammad Reza, Salehi, Ahmad Reza, Shahrzad, Shahab, Salehi, Rasoul

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Dysfonction sinusale, syndrome de Brugada et syndrome du QT long chez un même patient - Quand la génétique y perd son latin von Porretta, Alessandra Pia, Davoine, Emeline, Superti-Furga, Andrea, Bhuiyan, Zahurul Alam, Domenichini, Giulia, Herrera Siklody, Claudia, Pascale, Patrizio, Haddad, Christelle, Schläpfer, Jürg, Pruvot, Etienne

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Sinus node dysfunction, Brugada syndrome and long QT syndrome affecting the same patient : when genetics can't make head or tail of it von Porretta, Alessandra Pia, Davoine, Emeline, Superti-Furga, Andrea, Bhuiyan, Zahurul Alam, Domenichini, Giulia, Herrera Siklody, Claudia, Pascale, Patrizio, Haddad, Christelle, Schläpfer, Jürg, Pruvot, Étienne

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Overproduction of the bleomycin-binding proteins from bleomycin-producing Streptomyces verticillus and a methicillin-resistant Staphylococcus aureus in Escherichia coli and their i... von Sugiyama, Masanori, Kumagai, Takanori, Matsuo, Hiroaki, Alam Bhuiyan, Zahurul, Ueda, Kazuhiro, Mochizuki, Hiroshi, Nakamura, Norio, Davies, Julian E

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