Search Results - "genetic testing"

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  1. 881
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    Case Report: A new case of YARS1-associated autosomal recessive disorder with compound heterozygous and concurrent 47, XXY by Janene Kuan, Janene Kuan, Ashleigh Hansen, Ashleigh Hansen, Hua Wang

    Published 2023
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  2. 882
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    Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review by Xueting Yang, Mengmeng Li, Qingwei Qi, Xiya Zhou, Na Hao, Yan Lü, Yulin Jiang

    Published 2024
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  3. 883
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    Do not ignore multiple capillary malformations in a child by Joana Calvão, Pedro Maia-Almeida, Leonor Ramos

    Published 2022
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  4. 884
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    Congenital Long QT Syndrome Type 8 Characterized by Fetal Onset of Bradycardia and 2:1 Atrioventricular Block by Donghoon Joo, Hyoung Doo Lee, Taehong Kim, Hoon Ko, Joung-Hee Byun

    Published 2021
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  5. 885
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    Morquio B disease: a case report by Tara Gholamian, Harpreet Chhina, Sylvia Stockler, Sylvia Stockler, Anthony Cooper, Anthony Cooper

    Published 2024
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  6. 886
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    Case Report: Transient antenatal bartter syndrome in an extremely preterm infant with a novel MAGED2 variant by Hongyuan Yang, Zhiyong Liu, Yaying Wu, Jinglin Xu, Ying He, Ruiquan Wang, Weifeng Zhang, Dongmei Chen

    Published 2023
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  7. 887
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    Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency by Kena Wang, Biao Zou, Fan Chen, Jianling Zhang, Zhihua Huang, Sainan Shu

    Published 2023
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  8. 888
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    Case report: Clinical and genetic analysis of a family with nonsyndromic auditory neuropathy by Lan Jiang, Hongen Xu, Danhua Liu, Sen Zhang, Ying Xu

    Published 2022
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  9. 889
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    Pre-implantation Genetic Diagnosis of Thalassemias by Wirawit Piyamongkol

    Published 2018
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  10. 890
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    Wilson's disease - clinical picture, factors influencing disease progression, treatment methods by Monika Korga, Paweł Pawlik, Przemysław Zaroda, Jakub Wawrzkowicz, Patrycja Niewinna, Paweł Dąda, Dominika Mańdziuk, Michał Żuchowski, Klaudia Kołodziej, Wojciech Kołodziej

    Published 2024
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  11. 891
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    GM2-gangliosidosis, type I (Tay - Sachs disease) in the pediatrician practice by Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Sukhanova, Olga B. Gordeeva, Natalia S. Sergienko, Ekaterina Yu. Zaharova

    Published 2021
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  12. 892
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    INTERVERTEBRAL DISC DEGENERATION LINKED TO STRUCTURAL GENE VARIATIONS by Shahzad Shoukat Nayani, Saeeda Baig

    Published 2024
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  13. 893
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    The international approach of pediatric thyroid nodules and thyroid differentiated carcinoma. The starting point for the Romanian pediatric guideline by Andreea-Ioana Stefan, Cristina Blag, Gheorghe Popa, Monica Dragomir, Rodica Cosnarovici, Doina Piciu

    Published 2021
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  14. 894
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    CONSANGUINITY AND LACK OF AWARENESS; STILL A WORRISOME DILEMMA AMID THALASSEMIC FAMILIES, A CROSS-SECTIONAL STUDY by Farhat Ijaz

    Published 2024
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  15. 895
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    Molecular Neuropathology in Practice: Clinical Profiling and Integrative Analysis of Molecular Alterations in Glioblastoma by MacLean P. Nasrallah MD, PhD, Zev A. Binder MD, PhD, Derek A. Oldridge MD, PhD, Jianhua Zhao PhD, FACMG, David B. Lieberman MS, CGC, Jacquelyn J. Roth PhD, Christopher D. Watt MD, PhD, Shrey Sukhadia MS, Eva Klinman PhD, Robert D. Daber PhD, Arati Desai MD, Steven Brem MD, Donald M. O'Rourke MD, Jennifer J. D. Morrissette PhD

    Published 2019
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  16. 896
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    Frequent torsades de pointes in a child with novel AKAP9 mutation: A case report and literature review by Yefeng Wang, Chao Zuo, Xiang Wang, Yunbin Xiao, Qiming Liu, Zhi Chen

    Published 2023
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  17. 897
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    Classic ketogenic diet-induced ketoacidosis in the treatment of pyruvate dehydrogenase deficiency: a case report and literature review by Rongrong Li, Mingsheng Ma, Wei Chen, Zhengqing Qiu

    Published 2024
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  18. 898
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    Recurrent Encephalopathy During Febrile Illnesses in a 6-Year-Old Boy by Eliza Szuch MD, Jeanna Auriemma MD

    Published 2018
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  19. 899
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    A multiplex method for detection of SARS-CoV-2 variants based on MALDI-TOF mass spectrometry by Ziyuan Zhao, Liying Sun, Liqin Wang, Xiaodong Li, Junping Peng

    Published 2023
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  20. 900
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    Case Report: Two Distinct Focal Congenital Hyperinsulinism Lesions Resulting From Separate Genetic Events by Elizabeth Rosenfeld, Elizabeth Rosenfeld, Lauren Mitteer, Lauren Mitteer, Kara Boodhansingh, Kara Boodhansingh, Susan A. Becker, Susan A. Becker, Heather McKnight, Heather McKnight, Linda Boyajian, Linda Boyajian, Amanda M. Ackermann, Amanda M. Ackermann, Amanda M. Ackermann, Jennifer M. Kalish, Jennifer M. Kalish, Jennifer M. Kalish, Tricia R. Bhatti, Tricia R. Bhatti, Lisa J. States, Lisa J. States, N. Scott Adzick, N. Scott Adzick, Katherine Lord, Katherine Lord, Katherine Lord, Diva D. De León, Diva D. De León, Diva D. De León

    Published 2021
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