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  1. Walker, Charles Houlden [Author] ; Romilly, Samuel Sir [Other]; Protheroe, Edward [Other]; Davis, Richard Hart [Other]; Hunt, Henry [Other]

    An independent address to the electors of Bristol, upon the state of the representation of the people : with free remarks upon the present candidates, Sir Samuel Romilly, Edw. Protheroe, Esq., Richard Hart Davis, Esq., Henry Hunt, Esq

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    S.l.: s.n, [1812] ; Farmington Hills, Mich: Thomson Gale

  2. Efthymiou, Stephanie [Author]; Schmidts, Miriam [Author]; Edvardson, Simon [Author]; Nolano, Maria [Author]; Devaux, Jerome [Author]; Houlden, Henry [Author]

    Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

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    Oxford: Oxford University Press, 2019

    Published in: Brain ; 142, 10 (2019), 2948-2964

  3. Nagy, Sara [Author]; Lau, Tracy [Author]; Alavi, Shahryar [Author]; Karimiani, Ehsan Ghayoor [Author]; Vallian, Jalal [Author]; Ng, Bobby G. [Author]; Noroozi Asl, Samaneh [Author]; Akhondian, Javad [Author]; Bahreini, Amir [Author]; Yaghini, Omid [Author]; Uapinyoying, Prech [Author]; Boennemann, Carsten G. [Author]; Freeze, Hudson H. [Author]; Dissanayake, Vajira H. W. [Author]; Sirisena, Nirmala D. [Author]; Schmidts, Miriam [Author]; Houlden, Henry [Author]; Moreno‐De‐Luca, Andres [Author]; Maroofian, Reza [Author]

    A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

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    Oxford: Wiley, 2022

    Published in: Clinical genetics ; 102, 6 (2022), 530-536

  4. Saffari, Afshin [Author]; Kellner, Melanie [Author]; Jordan, Catherine [Author]; Rosengarten, Helena [Author]; Mo, Alisa [Author]; Zhang, Bo [Author]; Strelko, Oleksandr [Author]; Neuser, Sonja Anna [Author]; Davis, Marie Y [Author]; Yoshikura, Nobuaki [Author]; Futamura, Naonobu [Author]; Takeuchi, Tomoya [Author]; Nabatame, Shin [Author]; Ishiura, Hiroyuki [Author]; Tsuji, Shoji [Author]; Aldeen, Huda Shujaa [Author]; Cali, Elisa [Author]; Rocca, Clarissa [Author]; Houlden, Henry [Author]; Efthymiou, Stephanie [Author]; Assmann, Birgit [Author]; Yoon, Grace [Author]; Trombetta, Bianca A [Author]; Kivisäkk, Pia [Author]; [...]

    The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia : SPG15

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    May 2023

    Published in: Brain ; 146(2023), 5 vom: Mai, Seite 2003-2015

  5. Martin, Paige B. [Author]; Kigoshi-Tansho, Yu [Author]; Sher, Roger B. [Author]; Ravenscroft, Gianina [Author]; Stauffer, Jennifer E. [Author]; Kumar, Rajesh [Author]; Yonashiro, Ryo [Author]; Müller, Tina [Author]; Griffith, Christopher [Author]; Allen, William [Author]; Pehlivan, Davut [Author]; Haral, Tamar [Author]; Zenker, Martin [Author]; Howting, Denise [Author]; Schanze, Denny [Author]; Faqeih, Eissa A. [Author]; Almontashiri, Naif A. M. [Author]; Maroofian, Reza [Author]; Houlden, Henry [Author]; Mazaheri, Neda [Author]; Galehdari, Hamid [Author]; Douglas, Ganka [Author]; Posey, Jennifer E. [Author]; Ryan, Monique [Author]; [...]

    NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

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    15 September 2020

    Published in: Nature Communications ; 11(2020) Artikel-Nummer 4625, 12 Seiten

  6. Mingardo, Enrico [Author]; Beaman, Glenda [Author]; Grote, Philip [Author]; Nordenskjöld, Agneta [Author]; Newman, William [Author]; Woolf, Adrian S. [Author]; Eckstein, Markus [Author]; Hilger, Alina C. [Author]; Dworschak, Gabriel C. [Author]; Rösch, Wolfgang [Author]; Ebert, Anne-Karolin [Author]; Stein, Raimund [Author]; Brusco, Alfredo [Author]; Di Grazia, Massimo [Author]; Tamer, Ali [Author]; Torres, Federico M. [Author]; Hernandez, Jose L. [Author]; Erben, Philipp [Author]; Maj, Carlo [Author]; Olmos, Jose M. [Author]; Riancho, Jose A. [Author]; Valero, Carmen [Author]; Hostettler, Isabel C. [Author]; Houlden, Henry [Author]; [...]

    A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

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    09 November 2022

    Published in: Communications biology ; 5(2022) vom: Nov., Artikel-ID 1203, Seite 1-11