Search Results

[Developmental and epileptic encephalopathy 33 caused by EEF1A2 gene mutation: a case report].

• Authors : He HL; Department of Neurology, Children's Medical Center, Xiangya Hospital, Central South University, Changsha 410008, China.; Lin XQ

Subjects: Developmental Disabilities*/Developmental Disabilities*/Developmental Disabilities*/genetics ; Peptide Elongation Factor 1*/Peptide Elongation Factor 1*/Peptide Elongation Factor 1*/genetics; Humans

• Source: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2024 Aug 15; Vol. 26 (8), pp. 861-864.Publisher: Zhongguo dang dai er ke za zhi she Country of Publication: China NLM ID: 100909956 Publication Model: Print Cited Medium: Print ISSN:

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[Report of a child with Bainbridge-Ropers syndrome due to a novel variant of ASXL3 gene and a literature review].

• Authors : Jiang Y; Department of Children's Health, Nanjing Children's Hospital, Nanjing, Jiangsu 210008, China. .; Li R

Subjects: Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/genetics ; Developmental Disabilities*/Developmental Disabilities*/Developmental Disabilities*/genetics ; Neurodevelopmental Disorders*/Neurodevelopmental Disorders*/Neurodevelopmental Disorders*/genetics

• Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Aug Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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[Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy].

• Authors : Wang T; Neurological Department of Children's Medical Center, Peking University First Hospital, Beijing 100176, China.; Cheng MM

Subjects: WW Domain-Containing Oxidoreductase*/WW Domain-Containing Oxidoreductase*/WW Domain-Containing Oxidoreductase*/genetics ; Phenotype* ; Genotype*

• Source: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2024 Aug 02; Vol. 62 (8), pp. 752-757.Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium:

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[Clinical phenotype and genetic analysis of a child with Intellectual developmental disorder and epilepsy due to variant of CLTC gene].

• Authors : Xie Z; Children's Medical Center, the Affiliated Hospital of Guangdong Medical University, Zhanjiang, Guangdong 524000, China. .; Li C

Subjects: Epilepsy*/Epilepsy*/Epilepsy*/genetics ; Phenotype* ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics

• Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Jul Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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[Analysis of a child with developmental disorder and epilepsy due to a homozygous variant of SLC25A12 gene].

• Authors : Wei S; Department of Pediatric Neurology, Guangzhou Women and Children's Medical Center Liuzhou Hospital, Liuzhou, Guangxi 545616, China. .; Huang X

Subjects: Epilepsy*/Epilepsy*/Epilepsy*/genetics ; Homozygote* ; Developmental Disabilities*/Developmental Disabilities*/Developmental Disabilities*/genetics

• Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Jul Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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生命早期空气污染物暴露与儿童神经发育 障碍的研究进展.

• Authors : 姜妍妍; 童娟; 陶芳标

• Source: Journal of Environmental & Occupational Medicine; Jul2024, Vol. 41 Issue 7, p828-833, 6p

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Research progress of patient-reported outcome measurement tools in the assessment of health-related quality of life during early childhood.

• Authors : LI Danyu; WANG Hao; SHEN Biyu

• Source: Journal of Nurses Training; 6/22/2024, Vol. 39 Issue 12, p1252-1256, 5p

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[A case of a syndrome characterized by short stature, and developmental delay caused by heterozygous variation in the FOXP4 gene].

• Authors : Ding SY; Pediatric Hospital of the First Affiliated Hospital of Henan University of Chinese Medicine College of Pediatrics Henan University of Chinese Medicine, Zhengzhou 450000, China.; Zhang QW

Subjects: Developmental Disabilities*/Developmental Disabilities*/Developmental Disabilities*/genetics ; Forkhead Transcription Factors*/Forkhead Transcription Factors*/Forkhead Transcription Factors*/genetics ; Heterozygote*

• Source: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2024 Jun 02; Vol. 62 (6), pp. 571-573.Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium:

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家庭尊严干预对自闭症患儿主要照顾者 照顾能力的影响.

• Authors : 张 瑾

• Source: Chinese General Practice Nursing; Jun2024, Vol. 22 Issue 11, p2078-2081, 4p

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孤独症谱系障碍幼儿感觉反应与自发性共同注意 能力发展的关系.

• Authors : 王天泽; 黄慧诗; 刘霖如

Subjects: AUTISM spectrum disorders; STIMULUS & response (Psychology); INTERACTIVE videos

• Source: Journal of New Medicine; Jun2024, Vol. 55 Issue 6, p430-436, 7p

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