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Chinese Journal of Pediatrics

Issue 6, 2020

Items 1-5 of 17

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Recent advances in LMNA gene related muscular dystrophy

Chinese Journal of Pediatrics, Volume 58, Issue 6,2020, Pages 512-515, doi:10.3760/cma.j.cn112140-20200313-00228

Clinical and genetic characteristics of children with STXBP1 encephalopathy

Chinese Journal of Pediatrics, Volume 58, Issue 6,2020, Pages 493-498, doi:10.3760/cma.j.cn112140-20191028-00683

Infantile onset inflammatory bowel disease in a child caused by heterozygous mutation of TNFAIP3

Chinese Journal of Pediatrics, Volume 58, Issue 6,2020, Pages 506-508, doi:10.3760/cma.j.cn112140-20191031-00690

Challenges and opportunities for genetic diagnosis of children with short stature

Chinese Journal of Pediatrics, Volume 58, Issue 6,2020, Pages 443-446, doi:10.3760/cma.j.cn112140-20200421-00415

Treatment of deficiency of adenosine deaminase 2 caused by CECR1 mutation with myeloablative hematopoietic stem cell transplantation

Chinese Journal of Pediatrics, Volume 58, Issue 6,2020, Pages 509-511, doi:10.3760/cma.j.cn112140-20191021-00659

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