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  1. Baňka, Pavel [Other]

    Pavel Baňka - reflection

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    Amsterdam: Schilt Publ., 2016

  2. Baňka, Pavel [Other]; Koleček, Michal [Other]

    Začarovaný kruh = Magic circle - [Vyd. 1]

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    V Ústí nad Labem: Fakulta umění a designu Univerzity Jana Evangelisty Purkyně, 2011

    Published in: Projekty

  3. de Boer, Elke; Ockeloen, Charlotte W.; Matalonga, Leslie; Horvath, Rita; Cohen, Enzo; Cuesta, Isabel; Danis, Daniel; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Gilissen, Christian; Johari, Mridul; Laurie, Steven; Li, Shuang; Matalonga, Leslie; Nelson, Isabelle; Peters, Sophia; Paramonov, Ida; Prasanth, Sivakumar; Robinson, Peter; Sablauskas, Karolis; Savarese, Marco; Steyaert, Wouter; Töpf, Ana; van der Velde, Joeri K.; [...]

    A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

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    Springer Science and Business Media LLC, 2021

    Published in: European Journal of Human Genetics

  4. Matalonga, Leslie; Hernández-Ferrer, Carles; Piscia, Davide; Cohen, Enzo; Cuesta, Isabel; Danis, Daniel; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Gilissen, Christian; Johari, Mridul; Laurie, Steven; Li, Shuang; Matalonga, Leslie; Nelson, Isabelle; Peters, Sophia; Paramonov, Ida; Prasanth, Sivakumar; Robinson, Peter; Sablauskas, Karolis; Savarese, Marco; Steyaert, Wouter; van der Velde, Joeri K.; Vitobello, Antonio; Schüle, Rebecca; [...]

    Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

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    Springer Science and Business Media LLC, 2021

    Published in: European Journal of Human Genetics

  5. Matalonga, Leslie; Hernández-Ferrer, Carles; Piscia, Davide; Cohen, Enzo; Cuesta, Isabel; Danis, Daniel; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Gilissen, Christian; Johari, Mridul; Laurie, Steven; Li, Shuang; Matalonga, Leslie; Nelson, Isabelle; Peters, Sophia; Paramonov, Ida; Prasanth, Sivakumar; Robinson, Peter; Sablauskas, Karolis; Savarese, Marco; Steyaert, Wouter; van der Velde, Joeri K.; Vitobello, Antonio; Schüle, Rebecca; [...]

    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

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    Springer Science and Business Media LLC, 2021

    Published in: European Journal of Human Genetics

  6. Gorman, Kathleen M.; Meyer, Esther; Grozeva, Detelina; Spinelli, Egidio; McTague, Amy; Sanchis-Juan, Alba; Carss, Keren J.; Bryant, Emily; Reich, Adi; Schneider, Amy L.; Pressler, Ronit M.; Simpson, Michael A.; Debelle, Geoff D.; Wassmer, Evangeline; Morton, Jenny; Sieciechowicz, Diana; Jan-Kamsteeg, Eric; Paciorkowski, Alex R.; King, Mary D.; Cross, J. Helen; Poduri, Annapurna; Mefford, Heather C.; Scheffer, Ingrid E.; Haack, Tobias B.; [...]

    Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

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    Elsevier BV, 2019

    Published in: The American Journal of Human Genetics