Search Results - "genetic testing"

Autosomal dominant chronic mucocutaneous candidiasis with STAT1 mutation can be associated with chronic active hepatitis: A case report by Lingling Liu, Yuan Huang, Yi Liao, Sainan Shu

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Hypoketotic hypoglycemia in citrin deficiency: a case report by Yoichi Wada, Natsuko Arai-Ichinoi, Atsuo Kikuchi, Osamu Sakamoto, Shigeo Kure

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Transient pseudohypoaldosteronism in infancy mainly manifested as poor appetite and vomiting: Two case reports and review of the literature by Yueerlanmu Tuoheti, Yueerlanmu Tuoheti, Yucan Zheng, Yan Lu, Mei Li, Yu Jin, Yu Jin

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Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families by Qiang Li, Yiting Wang, Yijun Pan, Jia Wang, Weishi Yu, Xiaodong Wang

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Pharmacogenetics: Knowledge assessment amongst Syrian pharmacists and physicians by Lina Albitar, Ghalia Abou Alchamat

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Thyroid Hormone Resistance in a Preterm Infant with a Novel THRB Mutation by Joon Yeol Bae, Dong Yeop Kim, Young Dai Kwon, Young Hwa Song, Han Hyuk Lim, Hyung-Doo Park, Jae Woo Lim

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Paediatric autoimmune diseases with ELANE mutations associated with neutropenia by Dan Zhang, Gaixiu Su, Sheng Hao, Jianming Lai, Shunqiao Feng

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Case Report: Good cardiac tolerance to Toripalimab in a CVD patient with oral melanoma by Wei Pan, Li Yin, Yadi Guo, Dachao Pan, Hui Huang

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The diagnostic difficulties of eosinophilia in clinical practice - case series by Agnieszka Szymczyk, Magdalena Szydełko, Joanna Szydełko, Jakub Jaworski, Yuliya Onyshchuk, Rafał Dziedzic, Marek Hus, Monika Podhorecka

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Evaluation of the Efficacy of Nusinersen Treatment in Patients with Late-onset SMA Using the Hammersmith Functional Motor Scale Expanded by Yiğithan Güzin, Ayşe Özbay Yıldız, Bakiye Tunçay, Pınar Gençpınar, Figen Baydan, Nihal Olgaç Dündar

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Next Generation Sequencing Claims in Precision Medicine: Questions a Formulary Committee Should Ask by Paul C Langley

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Pompe disease - What do we currently know about the disease? by Edyta Białowąs, Magdalena Mazurek, Artur Aghadi, Iwona Cuber, Ewelina Dybała, Karolina Szela

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Case Report: An early-onset inflammatory colitis due to a variant in TNFAIP3 causing A20 haploinsufficiency by Laura Zanatta, Francesca Biscaro, Silvia Bresolin, Maurizio Marzaro, Samantha Sarcognato, Ivana Cataldo, Antonio Marzollo, Stefano Martelossi

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The diagnostic difficulties of eosinophilia in clinical practice - case series by Agnieszka Szymczyk, Magdalena Szydełko, Joanna Szydełko, Jakub Jaworski, Yuliya Onyshchuk, Rafał Dziedzic, Marek Hus, Monika Podhorecka

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A long way to syndromic short stature by Federica Gaudioso, Camilla Meossi, Lidia Pezzani, Federico Grilli, Rosamaria Silipigni, Silvia Russo, Maura Masciadri, Alessandro Vimercati, Paola Giovanna Marchisio, Maria Francesca Bedeschi, Donatella Milani

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Live birth rate following endometrial preparation with daily versus depot GnRH agonist by Ulas Fidan, Mustafa Ozturk, Temel Ceyhan, Lala Kazımova, Emre Karasahin

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Obscure gastrointestinal bleeding caused by congenital enteropathy in a Chinese young child-a case report by Youhong Fang, Weizhong Gu, Youyou Luo, Jie Chen

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Characteristics and surgical outcomes of cleft palate in kabuki syndrome: a case series of 11 patients by Jong-Ho Kim, Jiwon Kang, Joon Seok Oh, Taeseon Ahn, Baek-kyu Kim, Rong-Min Baek

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Advances in Microfluidics Technology for Diagnostics and Detection

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Selected genetic factors increasing risk of neoplasia by Paweł Niewiadomski, Klaudia Mikołajczyk, Sebastian Rauhut, Krzysztof Stryjak, Maciej Lazarek, Bogusz Olszewski, Agata Sochań, Kornelia Kędziora-Kornatowska

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