Skip to contents

  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

    Articles
    View online
    Schließen
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    13 August 2021

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

  4. Maddirevula, Sateesh; Alameer, Seham; Ewida, Nour; de Sousa, Mirta Mittelstedt Leal; Bjørås, Magnar; Vågbø, Cathrine Broberg; Alkuraya, Fowzan S

    Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2022

    Published in: Human Genetics, 141 (2022) 2, Seite 209-215

  6. Ben‐Omran, Tawfeg; Ali, Rehab; Almureikhi, Mariam; Alameer, Seham; Al‐Saffar, Muna; Walsh, Christopher A.; Felie, Jillian M.; Teebi, Ahmad

    Phenotypic heterogeneity in Woodhouse–Sakati syndrome: Two new families with a mutation in the C2orf37 gene

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Wiley, 2011

    Published in: American Journal of Medical Genetics Part A, 155 (2011) 11, Seite 2647-2653

  7. Alowaysi, Maryam; Baadhaim, Moayad; Al-Shehri, Mohammad; Alzahrani, Hajar; Badkok, Amani; Attas, Hanouf; Zakri, Samer; Alameer, Seham; Malibari, Dalal; Hosawi, Manal; Daghestani, Mustafa; Al-Ghamdi, Khalid; muharraq, Mohammed; Zia, Asima; Tegne, Jesper; Alfadhel, Majid; Aboalola, Doaa; Alsayegh, Khaled

    Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-responsive Basal Ganglia Disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2024

    Published in: Human Cell (2024)

  8. 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

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2021

    Published in: Journal of Clinical Immunology, 41 (2021) 8, Seite 1781-1793

  9. 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

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2020

    Published in: EMBO Molecular Medicine, 12 (2020) 11

  10. 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

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Elsevier BV, 2020

    Published in: Genetics in Medicine, 22 (2020) 12, Seite 2071-2080

  11. 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

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2018

    Published in: European Journal of Human Genetics, 26 (2018) 4, Seite 592-598

  12. 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

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Oxford University Press (OUP), 2020

    Published in: Brain, 143 (2020) 10, Seite 2911-2928

  13. 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

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Elsevier BV, 2020

    Published in: Genetics in Medicine, 22 (2020) 3, Seite 610-621

  14. 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

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Elsevier BV, 2019

    Published in: Genetics in Medicine, 21 (2019) 3, Seite 736-742