Found: 9

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  • Genetic Insights from Consanguineous Cardiomyopathy Families.

    Published in:
    Genes, 2023, v. 14, n. 1, p. 182, doi. 10.3390/genes14010182
    By:
    • Maurer, Constance;
    • Boleti, Olga;
    • Najarzadeh Torbati, Paria;
    • Norouzi, Farzaneh;
    • Fowler, Anna Nicole Rebekah;
    • Minaee, Shima;
    • Salih, Khalid Hama;
    • Taherpour, Mehdi;
    • Birjandi, Hassan;
    • Alizadeh, Behzad;
    • Salih, Aso Faeq;
    • Bijari, Moniba;
    • Houlden, Henry;
    • Pittman, Alan Michael;
    • Maroofian, Reza;
    • Almashham, Yahya H.;
    • Karimiani, Ehsan Ghayoor;
    • Kaski, Juan Pablo;
    • Faqeih, Eissa Ali;
    • Vakilian, Farveh
    Publication type:
    Article

  • The clinical utility of rapid exome sequencing in a consanguineous population.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01192-5
    By:
    • Monies, Dorota;
    • Goljan, Ewa;
    • Rapid Exome Consortium;
    • Binmanee, Abdulaziz Mohammed;
    • Alashwal, Abdullah Ali Zafir;
    • Alsonbul, Abdullah Mohammed;
    • Alhussaini, Abdulrahman A.;
    • Abdallah, Alahmari Ali;
    • Albenmousa, Ali Hussain;
    • Almehaidib, Ali Ibrahim;
    • Hassan, Ali Syed Akhtarul;
    • Alharbi, Amal Salman Alseraihy;
    • Alhabib, Amro;
    • Podda, Antonello;
    • Alsaleem, Badr;
    • Al Saud, Bandar Bin Khalid;
    • Bin Abbas, Bassam Saleh;
    • Faqeih, Eissa Ali;
    • Aljofan, Fahad Badei;
    • Alhazzani, Fahad Naser
    Publication type:
    Article

  • Kinesin family member 12‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 3, p. 224, doi. 10.1111/cge.14524
    By:
    • Vogel, Georg‐Friedrich;
    • Podpeskar, Alexandra;
    • Rieder, Dietmar;
    • Salzer, Helin;
    • Garczarczyk‐Asim, Dorota;
    • Wang, Li;
    • Abuduxikuer, Kuerbanjiang;
    • Wang, Jian‐She;
    • Scharrer, Anke;
    • Faqeih, Eissa Ali;
    • Aseeri, Ali T.;
    • Vodopiutz, Julia;
    • Heilos, Andreas;
    • Pichler, Judith;
    • Huber, Wolf‐Dietrich;
    • Müller, Thomas;
    • Knisely, A. S.;
    • Janecke, Andreas R.
    Publication type:
    Article

  • Streamlining and cycle time reduction of the startup phase of clinical trials.

    Published in:
    2020
    By:
    • Abu-Shaheen, Amani;
    • Al Badr, Ahmad;
    • Al Fayyad, Isamme;
    • Al Qutub, Adel;
    • Faqeih, Eissa Ali;
    • Al-Tannir, Mohamad
    Publication type:
    journal article

  • Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 987, doi. 10.1002/jimd.12367
    By:
    • Alsharhan, Hind;
    • Ng, Bobby G.;
    • Daniel, Earnest James Paul;
    • Friedman, Jennifer;
    • Pivnick, Eniko K.;
    • Al‐Hashem, Amal;
    • Faqeih, Eissa Ali;
    • Liu, Pengfei;
    • Engelhardt, Nicole M.;
    • Keller, Kierstin N.;
    • Chen, Jie;
    • Mazzeo, Pamela A.;
    • Rosenfeld, Jill A.;
    • Bamshad, Michael J.;
    • Nickerson, Deborah A.;
    • Raymond, Kimiyo M.;
    • Freeze, Hudson H.;
    • He, Miao;
    • Edmondson, Andrew C.;
    • Lam, Christina
    Publication type:
    Article

  • Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 309, doi. 10.1002/ajmg.a.34406
    By:
    • Tompson, Stuart W.;
    • Faqeih, Eissa Ali;
    • Ala-Kokko, Leena;
    • Hecht, Jacqueline T.;
    • Miki, Rika;
    • Funari, Tara;
    • Funari, Vincent A.;
    • Nevarez, Lisette;
    • Krakow, Deborah;
    • Cohn, Daniel H.
    Publication type:
    Article

  • Metabolic Acidosis and Hypoglycemia in a Child with Leigh-Like Phenotype.

    Published in:
    Clinical Chemistry, 2020, v. 66, n. 5, p. 739, doi. 10.1093/clinchem/hvaa079
    By:
    • Alayed, Alaa M.;
    • Faqeih, Eissa Ali;
    • Aldehaimi, Abdulwahed;
    • Peake, Roy W. A.;
    • Almontashiri, Naif A. M.
    Publication type:
    Article

  • A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.

    Published in:
    Human Mutation, 2021, v. 42, n. 10, p. 1221, doi. 10.1002/humu.24251
    By:
    • Olinger, Eric;
    • Alawi, Intisar Al;
    • Al Riyami, Mohammed S.;
    • Salmi, Isa Al;
    • Molinari, Elisa;
    • Faqeih, Eissa Ali;
    • Al‐Hamed, Mohamed H.;
    • Barroso‐Gil, Miguel;
    • Powell, Laura;
    • Al‐Hussaini, Abdulrahman A.;
    • Rahim, Khawla A.;
    • Almontashiri, Naif A. M.;
    • Miles, Colin;
    • Shril, Shirlee;
    • Hildebrandt, Friedhelm;
    • Consortium, Genomics England Research;
    • Wilson, Ian J.;
    • Sayer, John A.
    Publication type:
    Article

  • Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2244, doi. 10.1002/ajmg.a.36073
    By:
    • Sparrow, Duncan B.;
    • Faqeih, Eissa Ali;
    • Sallout, Bahauddin;
    • Alswaid, Abdulrahman;
    • Ababneh, Faroug;
    • Al ‐ Sayed, MoeENaldeEN;
    • Rukban, Hadeel;
    • Eyaid, Wafaa M.;
    • Kageyama, Ryoichiro;
    • Ellard, Sian;
    • TurnpENny, Peter D.;
    • Dunwoodie, Sally L.
    Publication type:
    Article