Skip to contents

  1. Najafi Maryam Negari, Massoud [Author] ; Möller, Dietmar P. F. [Contributor]

    Micromagnetic Modeling by Computational Science Integrated Development Environments (CSIDE) ; Mikromagnetische Modellierung mithilfe von Integrierten Entwicklungsumgebungen für Rechnergestützte Naturwissenschaften

    Thesis
    View online
    Close

    Bookmarks

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

    Staats- und Universitätsbibliothek Hamburg Carl von Ossietzky, 2011-01-01

  2. Tavan, Ehsan [Author]; Najafi, Maryam [Author]; Moradi, Reza [Author]

    Identifying Ironic Content Spreaders on Twitter using Psychometrics, Contextual and Ironic Features with Gradient Boosting Classifier

    Articles
    View online
    Close

    Bookmarks

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

    2022

    Published in: CLEF (13. : 2022 : Bologna): CLEF 2022: CLEF 2022 working notes ; (2022), Seite 2687-2697

  3. Baranzehi, Tayebeh [Author]; Kordi-Tamandani, Dor Mohammad [Author]; Najafi, Maryam [Author]; Khajeh, Ali [Author]; Schmidts, Miriam [Author]

    Identification of a TPP1 Q278X mutation in an iranian patient with neuronal ceroid lipofuscinosis 2: literature review and mutations update

    Books
    View online
    Close

    Bookmarks

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

    Basel: MDPI, 2022

    Published in: Journal of Clinical Medicine ; 11, 21 (2022), 6415

  4. Sanderson, Leslie E. [Author]; Lanko, Kristina [Author]; Alsagob, Maysoon [Author]; Almass, Rawan [Author]; Al-Ahmadi, Nada [Author]; Najafi, Maryam [Author]; Antony, Dinu [Author]; Schmidts, Miriam [Author]; Barakat, Tahsin Stefan [Author]; Ham, Tjakko J. van [Author]; Kaya, Namik [Author]

    Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

    Books
    View online
    Close

    Bookmarks

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

    Oxford: Oxford Univ. Press, 2021

    Published in: Brain ; 144, 3 (2021), 769–780

  5. Najafi, Maryam [Author]; Kordi-Tamandani, Dor Mohammad [Author]; Azarfar, Anoush [Author]; Bakey, Zeineb [Author]; Behjati, Farkhondeh [Author]; Antony, Dinu [Author]; Schüle, Isabel [Author]; Sadeghi-Bojd, Simin [Author]; Karimiani, Ehsan Ghayoor [Author]; Schmidts, Miriam [Author]

    A 57 kB genomic deletion causing CTNS loss of function contributes to the CTNS mutational spectrum in the Middle East

    Books
    View online
    Close

    Bookmarks

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

    Lausanne: Frontiers Media, 2019

    Published in: Frontiers in pediatrics ; 7 (2019), 89

  6. Najafi, Maryam [Author]; Kordi-Tamandani, Dor Mohammad [Author]; Behjati, Farkhondeh [Author]; Sadeghi-Bojd, Simin [Author]; Bakey, Zeineb [Author]; Karimiani, Ehsan Ghayoor [Author]; Schüle, Isabel [Author]; Azarfar, Anoush [Author]; Schmidts, Miriam [Author]

    Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

    Books
    View online
    Close

    Bookmarks

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

    London: BioMed Central, 2019

    Published in: Orphanet journal of rare dise ; 14, 1 (2019), 41$z1750-1172

  7. Rad, Abolfazl [Author]; Altunoglu, Umut [Author]; Miller, Rebecca [Author]; Maroofian, Reza [Author]; James, Kiely N. [Author]; Çağlayan, Ahmet Okay [Author]; Najafi, Maryam [Author]; Stanley, Valentina [Author]; Boustany, Rose-Mary [Author]; Yeşil, Gözde [Author]; Sahebzamani, Afsaneh [Author]; Ercan-Sencicek, Gülhan [Author]; Saeidi, Kolsoum [Author]; Wu, Kaman [Author]; Bauer, Peter [Author]; Bakey, Zeineb [Author]; Gleeson, Joseph G. [Author]; Hauser, Natalie [Author]; Gunel, Murat [Author]; Kayserili, Hulya [Author]; Schmidts, Miriam [Author]

    MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

    Books
    View online
    Close

    Bookmarks

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

    London: BMJ, 2019

    Published in: Journal of medical genetics ; 56, 5 (2019), 332-39

  8. Vona, Barbara [Author]; Maroofian, Reza [Author]; Bellacchio, Emanuele [Author]; Najafi, Maryam [Author]; Thompson, Kyle [Author]; Alahmad, Ahmad [Author]; He, Langping [Author]; Ahangari, Najmeh [Author]; Rad, Abolfazl [Author]; Shahrokhzadeh, Sima [Author]; Bahena, Paulina [Author]; Mittag, Falk [Author]; Traub, Frank [Author]; Movaffagh, Jebrail [Author]; Amiri, Nafise [Author]; Doosti, Mohammad [Author]; Boostani, Reza [Author]; Shirzadeh, Ebrahim [Author]; Haaf, Thomas [Author]; Diodato, Daria [Author]; Schmidts, Miriam [Author]; Taylor, Robert W. [Author]; Karimiani, Ehsan Ghayoor [Author]

    Expanding the clinical phenotype of IARS2-related mitochondrial disease

    Books
    View online
    Close

    Bookmarks

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

    London: Springer Nature America, Inc, 2018

    Published in: BMC medical genetics ; 19, 1 (2018), 196

  9. Rehman, Atteeq U. [Author]; Najafi, Maryam [Author]; Kambouris, Marios [Author]; Al-Gazali, Lihadh [Author]; Makrythanasis, Periklis [Author]; Rad, Abolfazl [Author]; Maroofian, Reza [Author]; Rajab, Anna [Author]; Stark, Zornitza [Author]; Hunter, Jill V. [Author]; Bakey, Zeineb [Author]; Tokita, Mari J. [Author]; He, Weimin [Author]; Vetrini, Francesco [Author]; Petersen, Andrea [Author]; Santoni, Federico A. [Author]; Hamamy, Hanan [Author]; Wu, Kaman [Author]; Jasmi, Fatma Al [Author]; Helmstädter, Martin [Author]; Arnold, Sebastian Johannes [Author]; Xia, Fan [Author]; Richmond, Christopher [Author]; Liu, Pengfei [Author]; [...]

    Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

    Books
    View online
    Close

    Bookmarks

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

    New York, NY [u.a.]: Wiley, 2019

    Published in: Human mutation ; 40, 3 (2019), 267-280