Search Results - "genetic testing"

Suggested Topics within your search.
Refine Results
  1. 1621
    Cover Image

    Atypical Late-Onset Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome with Intractable Diarrhea: A Case Report by Ting Ge, Yizhong Wang, Yanran Che, Yongmei Xiao, Ting Zhang

    Published 2017
    Connect to this object online.
    Book

    Save to List
    Saved in:
  2. 1622
    Cover Image

    Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report by Sarah Bocchini, Danilo Fintini, Graziano Grugni, Arianna Boiani, Alessio Convertino, Antonino Crinò

    Published 2017
    Connect to this object online.
    Book

    Save to List
    Saved in:
  3. 1623
    Cover Image

    NEWBORN SCREENING PROGRAM IN SLOVENIA by Jernej Kovač, Barbka Repič Lampret, Žiga Iztok Remec, Teja Sever Šraj, Urh Grošelj

    Published 2024
    Connect to this object online.
    Book

    Save to List
    Saved in:
  4. 1624
    Cover Image

    A Diagnostic Dilemma: Job Syndrome Mimics Abusive Trauma by Serbülent Kılıç, Arzu Oto, Orhan Görükmez, Ayşenur Metin

    Published 2024
    Connect to this object online.
    Book

    Save to List
    Saved in:
  5. 1625
    Cover Image

    Cooccurring Type 1 Diabetes Mellitus and Autoimmune Thyroiditis in a Girl with Craniofrontonasal Syndrome: Are <i>EFNB1</i> Variants Associated with Autoimmunity? by Sebla Güneş, Jiangping Wu, Berk Özyılmaz, Reyhan Deveci Sevim, Tolga Ünüvar, Ahmet Anık

    Published 2022
    Connect to this object online.
    Book

    Save to List
    Saved in:
  6. 1626
    Cover Image

    Goldenhar Syndrome by Claudia Florida Costea, Cristina Rusu, Camelia Geanina Ivanescu, Silvia Dumitras, Gabriela Dimitriu, Andrei Cucu, Mircea Albert, Dana Mihaela Turliuc, Ingrith Crenguta Miron

    Published 2015
    Connect to this object online.
    Book

    Save to List
    Saved in:
  7. 1627
    Cover Image

    Molecular Bases of Endometriosis The Integration Between Research and Clinical Practice

    Published 2019
    DOAB: download the publication
    DOAB: description of the publication
    Electronic Book Chapter

    Save to List
    Saved in:
  8. 1628
    Cover Image

    A RARE CASE OF INFERIOR VENA CAVA AGENESIS ASSOCIATED WITH DEEP VENOUS THROMBOSIS by Iulia Armean, Cristina Oana Marginean, Lorena Elena Melit, Carmen Duicu

    Published 2018
    Connect to this object online.
    Book

    Save to List
    Saved in:
  9. 1629
    Cover Image

    Genetics and"democracy" by Federico Marchetti, Giovanni Corsello

    Published 2022
    Connect to this object online.
    Book

    Save to List
    Saved in:
  10. 1630
    Cover Image

    One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia by Darija Šimić, Ana Šarić, Ana Škaričić, Ivan Lehman, Branka Bunoza, Ivana Rako, Ksenija Fumić

    Published 2024
    Connect to this object online.
    Book

    Save to List
    Saved in:
  11. 1631
    Cover Image

    Cherubism: Clinicoradiographic Features and Treatment by Luiz Antonio Guimarães Cabral, Janete Dias Almeida, Gabriela de Morais Gouvêa Lima

    Published 2010
    Connect to this object online.
    Book

    Save to List
    Saved in:
  12. 1632
    Cover Image

    Assessing the Content Quality of Online Parental Resources about Newborn Metabolic Disease Screening: A Content Analysis by Olivia M. Y. Ngan, Wing Ki Wong, Janice Ching Tam, Chi Kong Li

    Published 2022
    Connect to this object online.
    Book

    Save to List
    Saved in:
  13. 1633
    Cover Image

    Attention to renal involvement: report of 17 Joubert syndrome cases in children of a single center in China by Liang Ying, Wang Hui, FuQian, Zhou Nan, Jiang Yeping, Mi Lan

    Published 2022
    Connect to this object online.
    Book

    Save to List
    Saved in:
  14. 1634
    Cover Image

    Short-term Prophylaxis for Delivery in Pregnant Women with Hereditary Angioedema with Normal C1-Inhibitor by Caroline Guth de Freitas Batista de Moraes, Liya Regina Mikami, Lilian Pereira Ferrari, João Bosco Pesquero, Herberto José Chong-Neto, Nelson Augusto Rosario Filho

    Published 2021
    Connect to this object online.
    Book

    Save to List
    Saved in:
  15. 1635
    Cover Image

    New developments in the management of Wilson's disease in children by Tudor Lucian Pop, Alina Grama

    Published 2024
    Connect to this object online.
    Book

    Save to List
    Saved in:
  16. 1636
    Cover Image

    An unusual diagnosis for an usual test by Andrea Trombetta, Vanessa Migliarino, Flavio Faletra, Egidio Barbi, Gianluca Tornese

    Published 2020
    Connect to this object online.
    Book

    Save to List
    Saved in:
  17. 1637
    Cover Image

    A mosaic mutation in the CLCNKB gene causing Bartter syndrome: A case report by Lan Zhou, Lan Zhou, Xiaohui Chen, Xiaohui Chen, Jiaojiao Xiong, Jiaojiao Xiong, Ling Lei, Ling Lei

    Published 2023
    Connect to this object online.
    Book

    Save to List
    Saved in:
  18. 1638
    Cover Image

    Celiac disease and non-celiac gluten sensitivity - characteristics and differences by Kacper Kulik, Zuzanna Fryska, Adam Wołejko, Jakub Kuciński, Paweł Semeniuk, Krystian Matusz, Rafał Burczyk, Natalie Górna, Adam Łabuda

    Published 2023
    Connect to this object online.
    Book

    Save to List
    Saved in:
  19. 1639
    Cover Image

    The awareness of the citizens of Swietokrzyskie Voivodeship on the genetic predisposition on cancer by Izabela Kamila Wojarska

    Published 2017
    Connect to this object online.
    Book

    Save to List
    Saved in:
  20. 1640
    Cover Image

    Transdisciplinary Perspectives on Precision Medicine

    Published 2021
    Connect to this object online.
    Book

    Save to List
    Saved in:

Search Tools: