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  5. Müller-Röber, Bernd [Author]; Hucho, Ferdinand [Author]; Budisa, Nediljko [Author]; Fehse, Boris [Author]; Hampel, Jürgen [Author]; Köchy, Kristian [Author]; Reich, Jens [Author]; Rheinberger, Hans-Jörg [Author]; Ropers, Hans-Hilger [Author]; Taupitz, Jochen [Author]; Walter, Jörn [Author]

    1. Kernaussagen und Handlungsempfehlungen

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    Berlin-Brandenburgischen Akademie der Wissenschaften (BBAW): Publications, 2013-03-11

  8. Kahrizi, Kimia; Najmabadi, Hossein; Kariminejad, Roxana; Jamali, Payman; Malekpour, Mahdi; Garshasbi, Masoud; Ropers, Hans Hilger; Kuss, Andreas Walter; Tzschach, Andreas

    An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4

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    Springer Science and Business Media LLC, 2009

    Published in: European Journal of Human Genetics

  10. Garshasbi, Masoud; Kahrizi, Kimia; Hosseini, Masoumeh; Nouri Vahid, Leila; Falah, Masoumeh; Hemmati, Sahel; Hu, Hao; Tzschach, Andreas; Ropers, Hans Hilger; Najmabadi, Hossein; Kuss, Andreas Walter

    A novel nonsense mutation in TUSC3 is responsible for non‐syndromic autosomal recessive mental retardation in a consanguineous Iranian family

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    Wiley, 2011

    Published in: American Journal of Medical Genetics Part A

  12. Moheb, Lia Abbasi; Tzschach, Andreas; Garshasbi, Masoud; Kahrizi, Kimia; Darvish, Hossein; Heshmati, Yaser; Kordi, Alireza; Najmabadi, Hossein; Ropers, Hans Hilger; Kuss, Andreas Walter

    Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome

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    Springer Science and Business Media LLC, 2008

    Published in: European Journal of Human Genetics

  13. Schweiger, Susann; Foerster, John; Lehmann, Tanja; Suckow, Vanessa; Muller, Yves A.; Walter, Gerald; Davies, Theresa; Porter, Helen; van Bokhoven, Hans; Lunt, Peter W.; Traub, Peter; Ropers, Hans-Hilger

    The Opitz syndrome gene product, MID1, associates with microtubules

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    Proceedings of the National Academy of Sciences, 1999

    Published in: Proceedings of the National Academy of Sciences

  14. Schweiger, Susann; Foerster, John; Lehmann, Tanja; Suckow, Vanessa; Muller, Yves A.; Walter, Gerald; Davies, Theresa; Porter, Helen; van Bokhoven, Hans; Lunt, Peter W.; Traub, Peter; Ropers, Hans-Hilger

    The Opitz Syndrome Gene Product, MID1, Associates with Microtubules

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    National Academy of Sciences of the United States of America, 1999

    Published in: Proceedings of the National Academy of Sciences of the United States of America

  15. Motazacker, Mohammad Mahdi; Rost, Benjamin Rainer; Hucho, Tim; Garshasbi, Masoud; Kahrizi, Kimia; Ullmann, Reinhard; Abedini, Seyedeh Sedigheh; Nieh, Sahar Esmaeeli; Amini, Saeid Hosseini; Goswami, Chandan; Tzschach, Andreas; Jensen, Lars Riff; Schmitz, Dietmar; Ropers, Hans Hilger; Najmabadi, Hossein; Kuss, Andreas Walter

    A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation

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    Elsevier BV, 2007

    Published in: The American Journal of Human Genetics

  16. Jensen, Lars Riff; Lenzner, Steffen; Moser, Bettina; Freude, Kristine; Tzschach, Andreas; Wei, Chen; Fryns, Jean-Pierre; Chelly, Jamel; Turner, Gillian; Moraine, Claude; Hamel, Ben; Ropers, Hans-Hilger; Kuss, Andreas Walter

    X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11

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    Springer Science and Business Media LLC, 2007

    Published in: European Journal of Human Genetics

  17. Nair, Divya; Li, Dong; Erdogan, Hannah; Yoon, Andrew; Harr, Margaret H.; Bergant, Gaber; Peterlin, Borut; Pušenjak, Maruša Škrjanec; Jayakar, Parul; Pfundt, Rolph; Jansen, Sandra; McWalter, Kirsty; Sidhu, Alpa; Saliganan, Sheila; Agolini, Emanuele; Jacob, Arthur; Pasquier, Jennifer; Arash, Rafii; Kahrizi, Kimia; Najmabadi, Hossein; Ropers, Hans-Hilger; Bhoj, Elizabeth J.

    Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

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    Elsevier BV, 2022

    Published in: Human Genetics and Genomics Advances

  18. Nair, Divya; Li, Dong; Erdogan, Hannah; Yoon, Andrew; Harr, Margaret H.; Bergant, Gaber; Peterlin, Borut; Škrjanec Pušenjak, Maruša; Jayakar, Parul; Pfundt, Rolph; Jansen, Sandra; McWalter, Kirsty; Sidhu, Alpa; Saliganan, Sheila; Agolini, Emanuele; Jacob, Arthur; Pasquier, Jennifer; Arash, Rafii; Kahrizi, Kimia; Najmabadi, Hossein; Ropers, Hans-Hilger; Bhoj, Elizabeth J.

    Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

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    Elsevier BV, 2021

    Published in: Human Genetics and Genomics Advances

  19. Frints, Suzanna Gerarda Maria; Lenzner, Steffen; Bauters, Mareike; Jensen, Lars Riff; Van Esch, Hilde; des Portes, Vincent; Moog, Ute; Macville, Merryn Victor Erik; van Roozendaal, Kees; Schrander-Stumpel, Constance Theresia Rimbertha Maria; Tzschach, Andreas; Marynen, Peter; Fryns, Jean-Pierre; Hamel, Ben; van Bokhoven, Hans; Chelly, Jamel; Beldjord, Chérif; Turner, Gillian; Gecz, Jozef; Moraine, Claude; Raynaud, Martine; Ropers, Hans Hilger; Froyen, Guy; Kuss, Andreas Walter

    MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

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    Springer Science and Business Media LLC, 2008

    Published in: European Journal of Human Genetics

  20. Kuss, Andreas Walter; Garshasbi, Masoud; Kahrizi, Kimia; Tzschach, Andreas; Behjati, Farkhondeh; Darvish, Hossein; Abbasi-Moheb, Lia; Puettmann, Lucia; Zecha, Agnes; Weißmann, Robert; Hu, Hao; Mohseni, Marzieh; Abedini, Seyedeh Sedigheh; Rajab, Anna; Hertzberg, Christoph; Wieczorek, Dagmar; Ullmann, Reinhard; Ghasemi-Firouzabadi, Saghar; Banihashemi, Susan; Arzhangi, Sanaz; Hadavi, Valeh; Bahrami-Monajemi, Gholamreza; Kasiri, Mahboubeh; Falah, Masoumeh; [...]

    Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots

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    Springer Science and Business Media LLC, 2011

    Published in: Human Genetics