Genetics and congenital disorders

ISSN: 1471-2431 (Online)

In this topical collection (237 articles)

Page of 12

  1. Research article

    Lacrimal sac bacteriology and susceptibility pattern in infants with congenital nasolacrimal duct obstruction in the 1st year of life: a cross-sectional study

    Xiao-Yu Zheng, Bonnie Nga Kwan Choy, Ming-Ming Zhou, Cai-Ping Shi… Article:465
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  2. Case report

    Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report

    Shihong Zhan, Fangfang Cheng, Hailong He, Shaoyan Hu, Xing Feng Article:460
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  3. Research article

    Antenatal and postnatal diagnoses of visible congenital malformations in a sub-Saharan African setting: a prospective multicenter cohort study

    Igor Kamla, Nelly Kamgaing, Serge Billong, Joel Noutakdie Tochie… Article:457
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  4. Case report

    Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review

    Xiaojian Mao, Sichi Liu, Yunting Lin, Zhen Chen, Yongxian Shao, Qiaoli Yu… Article:456
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  5. Case report

    Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria

    Leen Jamel Doya, Lava Mohammad, Razan Omran, Alexander Ali Ibrahim… Article:449
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  6. Case report

    Unilateral pulmonary vein atresia presenting with recurrent haemoptysis in a child: a case report

    Martin Ngie Liong Wong, Ing Ping Tang, Yek Kee Chor, Kiew Siong Lau… Article:448
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  7. Study protocol

    Study protocol: childhood outcomes of fetal genomic variants: the PrenatAL Microarray (PALM) cohort study

    Lisa Hui, Cecilia Pynaker, Joanne Kennedy, Sharon Lewis, David J. Amor… Article:447
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  8. Case report

    Hypoketotic hypoglycemia in citrin deficiency: a case report

    Yoichi Wada, Natsuko Arai-Ichinoi, Atsuo Kikuchi, Osamu Sakamoto… Article:444
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  9. Case report

    Obscure gastrointestinal bleeding caused by congenital enteropathy in a Chinese young child-a case report

    Youhong Fang, Weizhong Gu, Youyou Luo, Jie Chen Article:438
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  10. Research article

    Do children with left ventricular noncompaction and a noncompaction-to-compaction ratio < 2 have a better prognosis?

    Yi Gan, Li Luo, Jie Tian, Lingjuan Liu, Tiewei Lu Article:430
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  11. Case report

    Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report

    Ting Zeng, Linyan Liao, Yi Guo, Xuxu Liu, Xiaobo Xiong, Yu Zhang, Shi Cen… Article:420
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  12. Research article

    Primary immunodeficiency disease: a retrospective study of 112 Chinese children in a single tertiary care center

    Jinhong Wu, Wenwei Zhong, Yong Yin, Hao Zhang Article:410
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  13. Case report

    A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report

    Kao-Min Lin, Geng Su, Fengpeng Wang, Xiaobin Zhang, Yuanqing Wang… Article:400
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  14. Research article

    Cholinergic innervation and ganglion cell distribution in Hirschsprung’s disease

    Anne K. Braczynski, Stefan Gfroerer, Rudi Beschorner, Patrick N. Harter… Article:399
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  15. Research article

    Neutrophil-to-lymphocyte ratio and scoring system for predicting coronary artery lesions of Kawasaki disease

    Ling-Sai Chang, Yi-Ju Lin, Jia-Huei Yan, Mindy Ming-Huey Guo, Mao-Hung Lo… Article:398
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  16. Research article

    High mortality due to congenital malformations in children aged < 1 year in French Guiana

    Mathieu Nacher, Véronique Lambert, Anne Favre, Gabriel Carles… Article:393
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  17. Case report

    A family of Melnick-Needles syndrome: a case report

    Chi Hoon Oh, Chang Ho Lee, So Young Kim, So-Young Lee, Hak Hoon Jun… Article:391
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  18. Case report

    Periosteal new bone formation in Klippel-Trénaunay syndrome: a case report

    Xiang Fang, Wenli Zhang, Zeping Yu, Fuguo Kuang, Bin Huang, Hong Duan Article:388
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  19. Case report

    Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report

    Xin Xu, Fen Lu, Li Zhang, Hongying Li, Senjie Du, Jian Tang Article:384
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  20. Case report

    Successful treatment in a child with enthesitis-related arthritis involving the sternoclavicular joint: a case report

    Po-Yu Huang, Ling-Sai Chang, Mindy Ming-Huey Guo, Ho-Chang Kuo Article:373
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