Search Results - "Mendelian inheritance"

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  1. 21
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    Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report by Xiaojing Li, Bingwei Peng, Chi Hou, Jinliang Li, Yiru Zeng, Wenxiao Wu, Yinting Liao, Yang Tian, Wen-Xiong Chen

    Published 2020
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  2. 22
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    Tooth agenesis review by L. Gábrlíková

    Published 2012
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  3. 23
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    Hypertrichosis associated with genetic conditions with head and neck alterations by Mirelle Estéfane de Oliveira Caixeta, Caroline Rodrigues Dias, Rafael Martins Afonso Pereira, Thiago de Amorim Carvalho, Ivania Aparecida Pimenta Santos Silva, Rodrigo Soares de Andrade

    Published 2022
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  4. 24
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    Deciphering the mystery of CHNG3 by Satoshi Narumi

    Published 2024
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  5. 25
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    Sanjad Sakati Syndrome: Case reports from Egypt by Mona Hafez, Ghada M. Anwar, Amany Ibrahim, Noha Musa

    Published 2017
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  6. 26
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    A false-positive result at non-invasive prenatal testing due to maternal 17p12 microduplication by Chih-Ping Chen, Shin-Wen Chen, Peih-Shan Wu, Fang-Tzu Wu, Wayseen Wang

    Published 2022
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  7. 27
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    A Case-Based Active Learning Session for Medical Genetics Resources by Hana Anderson, Amy C. Studer, Katharine N. Holm, Ayaka Suzuki

    Published 2021
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  8. 28
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    Prenatal diagnosis of an 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction on fetal ultrasound by Chih-Ping Chen, Tung-Yao Chang, Fang-Yu Hung, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chen-Chi Lee, Wayseen Wang

    Published 2017
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  9. 29
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    Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria by Lu Cao, Ruixue Zhang, Liang Yong, Shirui Chen, Hui Zhang, Weiwei Chen, Qiongqiong Xu, Huiyao Ge, Yiwen Mao, Qi Zhen, Yafen Yu, Xia Hu, Liangdan Sun

    Published 2021
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  10. 30
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    Peroxisomal proliferator activated receptor-γ deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3) by Cao Henian, Wang Jian, Casey Robin, Li Gang, Francis Gordon A, Leff Todd, Hegele Robert A

    Published 2006
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  11. 31
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    Molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect by Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chen-Chi Lee, Chien-Wen Yang, Wayseen Wang

    Published 2017
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  12. 32
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    Genetic classification and confirmation of inherited platelet disorders: current status in Korea by Ye Jee Shim

    Published 2020
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  13. 33
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    Exploring the pharmacological action mechanism of Ligusticum Chuanxiong-Piper Longum couplet medicines on the treatment of migraine based on network pharmacology by Ti Li, Shupeng Guo, Meixi Lu, Fang Lu, Tianjiao Lu, Chunze Zheng

    Published 2022
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  14. 34
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    Case Report: BCG-Triggered Hemophagocytic Lymphohistiocytosis in an Infant With X-Linked Recessive Mendelian Susceptibility to Mycobacterial Disease Due to a Variant of Chronic Gra... by Suleiman Al-Hammadi, Suleiman Al-Hammadi, Amal M. Yahya, Abdulla Al-Amri, Amar Shibli, Ghazala B. Balhaj, Mohamed I. Tawil, Ranjit Vijayan, Abdul-Kader Souid

    Published 2021
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  15. 35
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    Naoluo Xintong Decoction in the Treatment of Ischemic Stroke: A Network Analysis of the Mechanism of Action by Ni Wang, Furui Chu, Changyi Fei, Lingyu Pan, Yongzhong Wang, Weidong Chen, Daiyin Peng, Xianchun Duan, Ling He

    Published 2022
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  16. 36
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    Genetics and Epigenetics in Complex Diseases

    Published 2023
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  17. 37
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    Prenatal diagnosis of familial 2p15 microduplication associated with pulmonary artery stenosis, single umbilical artery and left foot postaxial polydactyly on fetal ultrasound by Chih-Ping Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Wayseen Wang

    Published 2021
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  18. 38
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    Genome-Wide Association Study-Guided Exome Rare Variant Burden Analysis Identifies IL1R1 and CD3E as Potential Autoimmunity Risk Genes for Celiac Disease by Haifa Mansour, Haifa Mansour, Babajan Banaganapalli, Babajan Banaganapalli, Khalidah Khalid Nasser, Khalidah Khalid Nasser, Khalidah Khalid Nasser, Jumana Yousuf Al-Aama, Jumana Yousuf Al-Aama, Noor Ahmad Shaik, Noor Ahmad Shaik, Omar Ibrahim Saadah, Omar Ibrahim Saadah, Ramu Elango, Ramu Elango

    Published 2022
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  19. 39
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    Genotypes and Phenotypes of MEF2C Haploinsufficiency Syndrome: New Cases and Novel Point Mutations by Lin Wan, Lin Wan, Xinting Liu, Xinting Liu, Linyan Hu, Huimin Chen, Yulin Sun, Yulin Sun, Zhichao Li, Zhichao Li, Zhenfang Wang, Zhi Lin, Liping Zou, Liping Zou, Liping Zou, Guang Yang, Guang Yang, Guang Yang

    Published 2021
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  20. 40
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    Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disability by Chih-Ping Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Wen-Lin Chen, Chien-Wen Yang, Wayseen Wang

    Published 2018
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