Search Results - "genetic testing"

Suggested Topics within your search.
Refine Results
  1. 1561
    Cover Image

    Perinatal-lethal Gaucher disease can be the underlying cause of congenital ichthyosis by Kubra Baskin, Eser Aynaci, Ozge Onay Surmeli, M. Munevver Bas

    Published 2019
    Connect to this object online.
    Book

    Save to List
    Saved in:
  2. 1562
    Cover Image

    The spider web sign in the COVID lung by Rudrajit Paul, Kunal Som

    Published 2021
    Connect to this object online.
    Book

    Save to List
    Saved in:
  3. 1563
    Cover Image

    Identification of Two de novo Variants of CACNA1A in Pediatric Chinese Patients With Paroxysmal Tonic Upgaze by Li-Ping Zhang, Yu Jia, Yu-Ping Wang, Yu-Ping Wang

    Published 2021
    Connect to this object online.
    Book

    Save to List
    Saved in:
  4. 1564
    Cover Image

    Red cell membranopathies: Case series and review of literature by Ratna Sharma, Amit Jain

    Published 2024
    Connect to this object online.
    Book

    Save to List
    Saved in:
  5. 1565
    Cover Image

    A 3-year-old girl with old face appearance: Case report by Hamad A Alfahaad

    Published 2022
    Connect to this object online.
    Book

    Save to List
    Saved in:
  6. 1566
    Cover Image

    Role of Clinical Laboratory in Diagnosis and Management of Di-abe¬tes Mellitus- Review Article by Farideh RAZI, Ensieh NASLI ESFAHANI, Bagher LARIJANI, Parvin PASALAR

    Published 2015
    Connect to this object online.
    Book

    Save to List
    Saved in:
  7. 1567
    Cover Image

    Gorlin Goltz Syndrome- A Rare Disease Reported In Bangladesh by Nafisa Afroze, ASM Ariful Islam, Md Shofiqul Islam, Jeyasmin Akter Lipi

    Published 2022
    Connect to this object online.
    Book

    Save to List
    Saved in:
  8. 1568
    Cover Image

    Recurrent pacemaker lead thrombosis in a patient with gene polymorphism: a rare case treated with thrombolytic therapy by S. Selim Ayhan, Serkan Öztürk, Mehmet Fatih Özlü, Selma Düzenli

    Published 2013
    Connect to this object online.
    Book

    Save to List
    Saved in:
  9. 1569
    Cover Image

    Genetic Discrimination in Health Insurance: Current Legal Protections and Industry Practices by Karen Pollitz, Beth N. Peshkin, Eliza Bangit, Kevin Lucia

    Published 2007
    Connect to this object online.
    Book

    Save to List
    Saved in:
  10. 1570
    Cover Image

    Mutation analysis of the KRT9 gene in a family with epidermolytic palmoplantar keratoderma by Yongfeng YAO, Zhijie LUO, Zeqiao ZHANG, Fang YANG

    Published 2023
    Connect to this object online.
    Book

    Save to List
    Saved in:
  11. 1571
    Cover Image

    Epilepsia por dependência de piridoxina: um relato de caso by Larissa Magalhães de Paiva, Luigi Neves Reis, Rinara Grossi de Andrade, Shaira Salvadora Brito, Giulia Antunes Chieppe, Isabela Bernardino Freire

    Published 2023
    Connect to this object online.
    Book

    Save to List
    Saved in:
  12. 1572
    Cover Image

    A rare but treatable inborn error of metabolism: Arginine:glycine amidinotransferase (AGAT) deficiency by Sebastian Romeo Pintilie, Adriana Fodor, Marius Bembea, Codruta Diana Petchesi, Simona Grad, Laura Damian, Romana Vulturar

    Published 2022
    Connect to this object online.
    Book

    Save to List
    Saved in:
  13. 1573
    Cover Image

    Pompe disease, a late-onset - misleading form of diagnosis in a patient with persistent hepatic cytolysis syndrome by Smaranda Diaconescu, Cristina Rusu, Laura Bozomitu, Alina Costina Luca, Ecaterina Vlad, Oana-Larisa C, Ramona Babici, Silvia Strat, Lorenza Donea

    Published 2020
    Connect to this object online.
    Book

    Save to List
    Saved in:
  14. 1574
    Cover Image

    A Case of Epidermolysis Bullosa Simplex (Dowling-Meara 1 Type) in Newborn by Gahyun Hong, Minsun Choi

    Published 2022
    Connect to this object online.
    Book

    Save to List
    Saved in:
  15. 1575
    Cover Image

    Case Report: Dramatic Cholestasis Responsive to Steroids in a Newborn Homozygous for H63D HFE Variant by Luca Filippi, Luca Filippi, Sara Tamagnini, Francesca Lorenzoni, Anna Caciotti, Amelia Morrone, Amelia Morrone, Rosa Scaramuzzo

    Published 2022
    Connect to this object online.
    Book

    Save to List
    Saved in:
  16. 1576
    Cover Image

    Improving Risk Assessment in Family Medicine Through the Family History by Matthew E. Bernard MD, FAAFP, Carrie A. Zabel MS, CGC, James E. Rohrer PhD

    Published 2010
    Connect to this object online.
    Book

    Save to List
    Saved in:
  17. 1577
    Cover Image

    Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease by Allison M. Jay, Premchand Anne, David Stockton

    Published 2019
    Connect to this object online.
    Book

    Save to List
    Saved in:
  18. 1578
    Cover Image

    HOW TO CREATE A LABORATORY EXAMINATION PROGRAM FOR A PATIENT WITH BLOOD-CLOTTING DISORDERS by T. V. VAVILOVA

    Published 2017
    Connect to this object online.
    Book

    Save to List
    Saved in:
  19. 1579
    Cover Image

    Genetic features of sensitivity to vitamin D and prevalence of vitamin D deficiency among outpatients by A.Yu. Poluektova, E.Yu. Martynova, I.R. Fatkhutdinov, T.Yu. Demidova, Yu.E. Poteshkin

    Published 2018
    Connect to this object online.
    Book

    Save to List
    Saved in:
  20. 1580
    Cover Image

    ADVANTAGES AND DISADVANTAGES OF SOCIOSCIENTIFIC ISSUE-BASED INSTRUCTION IN SCIENCE CLASSROOMS by Ayşegül Evren Yapıcıoğlu

    Published 2018
    Connect to this object online.
    Book

    Save to List
    Saved in:

Search Tools: