Works by Bastaki, Laila

Results: 16
    1

    Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait †.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 19, doi. 10.3390/ijns11010019
    By:
    • Alsharhan, Hind;
    • Ahmed, Amir A.;
    • Abdullah, Marwa;
    • Almaie, Moudhi;
    • Marafie, Makia J.;
    • Sulaiman, Ibrahim;
    • Elshafie, Reem M.;
    • Alahmad, Ahmad;
    • Alshammari, Asma;
    • Cyril, Parakkal Xavier;
    • Elkazzaz, Usama M.;
    • Ibrahim, Samia M.;
    • Elghitany, Mohamed;
    • Salloum, Ayman M.;
    • Yassen, Fahmy;
    • Alsafi, Rasha;
    • Bastaki, Laila;
    • Albash, Buthaina
    Publication type:
    Article
    2

    Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02888-y
    By:
    • Aburezq, Maryam;
    • Alahmad, Ahmad;
    • Alsafi, Rasha;
    • Al-Tawari, Asma;
    • Ramadan, Dina;
    • Shafik, Magdy;
    • Abdelaty, Omar;
    • Makhseed, Nawal;
    • Elshafie, Reem;
    • Ayed, Mariam;
    • Hayat, Abrar;
    • Dashti, Fatima;
    • Marafi, Dana;
    • Albash, Buthaina;
    • Bastaki, Laila;
    • Alsharhan, Hind
    Publication type:
    Article
    3
    4

    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

    Published in:
    Nature Genetics, 2015, v. 47, n. 5, p. 528, doi. 10.1038/ng.3256
    By:
    • Akizu, Naiara;
    • Ozgul, R Koksal;
    • Sagıroglu, Mahmut Samil;
    • Azam, Matloob;
    • Selim, Laila;
    • Mahmoud, Iman G;
    • Abdel-Hadi, Sawsan;
    • Badawy, Amera El;
    • Sadek, Abdelrahim A;
    • Mojahedi, Faezeh;
    • Kayserili, Hulya;
    • Masri, Amira;
    • Bastaki, Laila;
    • Müller, Ulrich;
    • Cantagrel, Vincent;
    • Desguerre, Isabelle;
    • Casanova, Jean-Laurent;
    • Dursun, Ali;
    • Gunel, Murat;
    • Gabriel, Stacey B
    Publication type:
    Article
    5
    6
    7

    Novel STAMBP mutation and additional findings in an Arabic family.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 805, doi. 10.1002/ajmg.a.36782
    By:
    • Faqeih, Eissa A.;
    • Bastaki, Laila;
    • Rosti, Rasim Ozgur;
    • Spencer, Emily G.;
    • Zada, AbdulAli P.;
    • Saleh, Mohammad A. M.;
    • Um, Kyongmi;
    • Gleeson, Joseph G.
    Publication type:
    Article
    8
    9

    SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3528, doi. 10.1093/brain/awad033
    By:
    • Smits, Daphne J;
    • Schot, Rachel;
    • Krusy, Nathalie;
    • Wiegmann, Katja;
    • Utermöhlen, Olaf;
    • Mulder, Monique T;
    • Hoedt, Sandra den;
    • Yoon, Grace;
    • Deshwar, Ashish R;
    • Kresge, Christina;
    • Pletcher, Beth;
    • Mook, Maura van;
    • Ferreira, Marta Serio;
    • Poot, Raymond A;
    • Slotman, Johan A;
    • Kremers, Gert-Jan;
    • Ahmad, Abeer;
    • Albash, Buthaina;
    • Bastaki, Laila;
    • Marafi, Dana
    Publication type:
    Article
    10

    Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

    Published in:
    2013
    By:
    • Harlalka, Gaurav V;
    • Lehman, Anna;
    • Chioza, Barry;
    • Baple, Emma L;
    • Maroofian, Reza;
    • Cross, Harold;
    • Sreekantan-Nair, Ajith;
    • Priestman, David A;
    • Al-Turki, Saeed;
    • McEntagart, Meriel E;
    • Proukakis, Christos;
    • Royle, Louise;
    • Kozak, Radoslaw P;
    • Bastaki, Laila;
    • Patton, Michael;
    • Wagner, Karin;
    • Coblentz, Roselyn;
    • Price, Joy;
    • Mezei, Michelle;
    • Schlade-Bartusiak, Kamilla
    Publication type:
    journal article
    11
    12
    13

    Woodhouse-Sakati syndrome in six Kuwaiti families.

    Published in:
    Middle East Journal of Medical Genetics, 2013, v. 2, n. 2, p. 39, doi. 10.1097/01.MXE.0000430774.84009.80
    By:
    • Bastaki, Laila;
    • Al-Wadaani, Amal;
    • Gouda, Sayed;
    • Al-Aboud, Hayat;
    • Elshafey, Alaa
    Publication type:
    Article
    14
    15
    16

    Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.

    Published in:
    Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2256
    By:
    • Alabdulrazzaq, Fatima;
    • Alanzi, Talal;
    • Al‐Balool, Haya H.;
    • Gardham, Alice;
    • Wakeling, Emma;
    • Leitch, Harry G.;
    • AlSayed, Moeenaldeen;
    • Abdulrahim, Maha;
    • Aladwani, Abdulaziz;
    • Romito, Antonio;
    • Kampe, Kapil;
    • Ferdinandusse, Sacha;
    • Aboelanine, Ashraf H.;
    • Abdullah, Amira;
    • Alwadani, Amal;
    • Bastaki, Laila;
    • Vaz, Frédéric M.;
    • Bertoli‐Avella, Aida M.;
    • Marafi, Dana
    Publication type:
    Article