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  1. Lenz, Dominic [Author]; Pahl, Jens [Author]; Hauck, Fabian [Author]; Alameer, Seham [Author]; Balasubramanian, Meena [Author]; Baric, Ivo [Author]; Boy, Nikolas [Author]; Church, Joseph A. [Author]; Crushell, Ellen [Author]; Dick, Anke [Author]; Distelmaier, Felix [Author]; Gujar, Jidnyasa [Author]; Indolfi, Giuseppe [Author]; Lurz, Eberhard [Author]; Peters, Bianca Isabelle [Author]; Schwerd, Tobias [Author]; Serranti, Daniele [Author]; Kölker, Stefan [Author]; Klein, Christoph [Author]; Hoffmann, Georg F. [Author]; Prokisch, Holger [Author]; Greil, Johann [Author]; Cerwenka, Adelheid [Author]; Giese, Thomas [Author];

    NBAS variants are associated with quantitative and ualitative NK and B Cell deficiency

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    13 August 2021

    Published in: Journal of clinical immunology ; 41(2021), 8, Seite 1781-1793

  7. Lenz, Dominic; Pahl, Jens; Hauck, Fabian; Alameer, Seham; Balasubramanian, Meena; Baric, Ivo; Boy, Nikolas; Church, Joseph A.; Crushell, Ellen; Dick, Anke; Distelmaier, Felix; Gujar, Jidnyasa; Indolfi, Giuseppe; Lurz, Eberhard; Peters, Bianca; Schwerd, Tobias; Serranti, Daniele; Kölker, Stefan; Klein, Christoph; Hoffmann, Georg F.; Prokisch, Holger; Greil, Johann; Cerwenka, Adelheid; Giese, Thomas;

    NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency

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    Springer Science and Business Media LLC, 2021

    Published in: Journal of Clinical Immunology

  8. Alahmad, Ahmad; Nasca, Alessia; Heidler, Juliana; Thompson, Kyle; Oláhová, Monika; Legati, Andrea; Lamantea, Eleonora; Meisterknecht, Jana; Spagnolo, Manuela; He, Langping; Alameer, Seham; Hakami, Fahad; Almehdar, Abeer; Ardissone, Anna; Alston, Charlotte L; McFarland, Robert; Wittig, Ilka; Ghezzi, Daniele; Taylor, Robert W

    Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

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    Springer Science and Business Media LLC, 2020

    Published in: EMBO Molecular Medicine

  9. Alharby, Essa; Faqeih, Eissa A.; Saleh, Mohammed; Alameer, Seham; Almuntashri, Makki; Pastore, Annalisa; Samman, Manar A.; Alnawfal, Abdullah M.; Hashem, Mais; Zaytuni, Dimah; Alharbi, Ghadeer; Almannai, Mohammed; Alasmari, Ali; Mahmoud, Adel A.; Alwadei, Ali H.; Jad, Lamya; AlOtaibi, Ali; Al-Hakami, Fahad; Eyaid, Wafaa; Alkuraya, Fowzan S.; Alfadhel, Majid; Peake, Roy W.A.; Almontashiri, Naif A.M.

    Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort

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    Elsevier BV, 2020

    Published in: Genetics in Medicine

  10. Bertoli-Avella, Aida M.; Garcia-Aznar, Jose M.; Brandau, Oliver; Al-Hakami, Fahad; Yüksel, Zafer; Marais, Anett; Grüning, Nana-Maria; Abbasi Moheb, Lia; Paknia, Omid; Alshaikh, Nahla; Alameer, Seham; Marafi, Makia J.; Al-Mulla, Fahd; Al-Sannaa, Nouriya; Rolfs, Arndt; Bauer, Peter

    Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability

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    Springer Science and Business Media LLC, 2018

    Published in: European Journal of Human Genetics

  11. Diaz, Jorge; Gérard, Xavier; Emerit, Michel-Boris; Areias, Julie; Geny, David; Dégardin, Julie; Simonutti, Manuel; Guerquin, Marie-Justine; Collin, Thibault; Viollet, Cécile; Billard, Jean-Marie; Métin, Christine; Hubert, Laurence; Larti, Farzaneh; Kahrizi, Kimia; Jobling, Rebekah; Agolini, Emanuele; Shaheen, Ranad; Zigler, Alban; Rouiller-Fabre, Virginie; Rozet, Jean-Michel; Picaud, Serge; Novelli, Antonio; Alameer, Seham; [...]

    YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations

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    Oxford University Press (OUP), 2020

    Published in: Brain

  12. Staufner, Christian; Peters, Bianca; Wagner, Matias; Alameer, Seham; Barić, Ivo; Broué, Pierre; Bulut, Derya; Church, Joseph A.; Crushell, Ellen; Dalgıç, Buket; Das, Anibh M.; Dick, Anke; Dikow, Nicola; Dionisi-Vici, Carlo; Distelmaier, Felix; Bozbulut, Neslihan Ekşi; Feillet, François; Gonzales, Emmanuel; Hadzic, Nedim; Hauck, Fabian; Hegarty, Robert; Hempel, Maja; Herget, Theresia; Klein, Christoph; [...]

    Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

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    Elsevier BV, 2020

    Published in: Genetics in Medicine

  13. Maddirevula, Sateesh; Alzahrani, Fatema; Al-Owain, Mohammed; Al Muhaizea, Mohammad A.; Kayyali, Husam R.; AlHashem, Amal; Rahbeeni, Zuhair; Al-Otaibi, Maha; Alzaidan, Hamad I.; Balobaid, Ameera; El Khashab, Heba Y.; Bubshait, Dalal K.; Faden, Maha; Yamani, Suad Al; Dabbagh, Omar; Al-Mureikhi, Mariam; Jasser, Abdulla Al; Alsaif, Hessa S.; Alluhaydan, Iram; Seidahmed, Mohammed Zain; Alabbasi, Bashair Hamza; Almogarri, Ibrahim; Kurdi, Wesam; Akleh, Hana; [...]

    Autozygome and high throughput confirmation of disease genes candidacy

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    Elsevier BV, 2019

    Published in: Genetics in Medicine