Search Results - "genetic testing"

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  1. 741
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    Equity in blood transfusion precision services by Georgina Jacko, Rachel Thorpe, James Daly

    Published 2024
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  2. 742
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    Protein-losing enteropathy with congenital kidney stones in a 2-month-old boy: a rare case report and literature review by Jiahui Fang, Zhuoheng Li, Lin Zhang, Qiaojian Liu, Jie Mao, Jintao Duan

    Published 2024
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  3. 743
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    Stüve-Wiedemann syndrome (A very rare case in Qatar) by sabry nasr ahmed, hussain parappil

    Published 2022
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  4. 744
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    Epilepsy syndromes during the first year of life and the usefulness of an epilepsy gene panel by Eun Hye Lee

    Published 2018
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  5. 745
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    Good response with zinc acetate monotherapy in an adolescent affected by severe Wilson disease by M.G. Marazzi, S. Giardino, C. Dufour, M. Serafino, D. Sperlì, R. Giacchino

    Published 2012
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  6. 746
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    Genetic Factors Associated with Toe Walking in Children by David Pomarino, Anneke Thren, Stefaine Morigeau, Johanna R. Thren, Anna A. Emelina

    Published 2020
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  7. 747
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    Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria by Leen Jamel Doya, Lava Mohammad, Razan Omran, Alexander Ali Ibrahim, Nizar Yousef, Ali Ibrahim, Mohammad Adib Houreih

    Published 2021
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  8. 748
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    Understanding genetic epidemiology and population disparities of inherited blood cancer syndromes from integrative analysis of population genomics datasets by Aastha Vatsyayan, Vinod Scaria

    Published 2021
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  9. 749
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    Co-occurrence of Mayer-Rokitansky-Küster-Hauser syndrome and ovarian cancer: A case report and review of the literature by Roberta Villa, Jacopo Azzollini, Bernard Peissel, Siranoush Manoukian

    Published 2019
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  10. 750
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    Progressive familial intrahepatic cholestasis: A comprehensive review of a challenging liver disease by Kavita Gaur, Puja Sakhuja

    Published 2017
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  11. 751
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    Cystic fibrosis in disguise - the wolf in sheep's clothing, a case report by Friederike Wilbert, Sarah C. Grünert, Andrea Heinzmann, Sebastian F. N. Bode

    Published 2021
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  12. 752
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    Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review by Gloria Pelizzo, Mirella Collura, Aurora Puglisi, Maria Pia Pappalardo, Emanuele Agolini, Antonio Novelli, Maria Piccione, Caterina Cacace, Rossana Bussani, Giovanni Corsello, Valeria Calcaterra

    Published 2019
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  13. 753
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    Nephrotoxicity in a Patient With Inadequate Pain Control: Potential Role of Pharmacogenetic Testing for Cytochrome P450 2D6 and Apolipoprotein L1 by Emma M. Tillman, Todd C. Skaar, Michael T. Eadon

    Published 2020
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  14. 754
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    Severe congenital thrombocytopenia and platelet dysfunction due to novel WAS gene mutation: case report by Darjan Kardum, Borna Biljan, Marijana Arambašić

    Published 2022
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  15. 755
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    Germline Mutations Including the Rare Pathogenic Variant c.3206delC in the <i>ATM</i> Gene Cause Ataxia Teleangiectasia-Associated Primary Central Nervous System Lymphoma by Jan R. Dörr, Anne Thorwarth, Agnieszka Mizia-Malarz, Josefine Radke, Anna Tietze, Pablo Hernáiz-Driever, Denise Horn, Alexander Gratopp, Angelika Eggert, Hedwig E. Deubzer

    Published 2021
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  16. 756
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    Clitoral leiomyoma in a premenopausal woman: a case report by Gianmarco Taraschi, Diego Aguiar, Jean Christophe Tille, Patrick Petignat, Jasmine Abdulcadir

    Published 2020
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  17. 757
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    Muscle Ultrasonographic Elastography in Children: Review of the Current Knowledge and Application by Agnieszka Cebula, Maciej Cebula, Ilona Kopyta

    Published 2021
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  18. 758
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    Investigation of Biomedical Students' Attitudes toward Pharmacogenomics and Personalized Medicine: A Cross-Sectional Study by Josipa Bukic, Doris Rusic, Dario Leskur, Ana Seselja Perisin, Tin Cohadzic, Marko Kumric, Josko Bozic, Darko Modun

    Published 2022
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  19. 759
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    Consanguinity - Its Impact, Consequences and Management

    Published 2014
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  20. 760
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    A novel mutation of gene in a patient with diazoxide-unresponsive congenital hyperinsulinism by Ji Sook Park, Hong-Jun Lee, Chan-Hoo Park

    Published 2016
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