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Academic Journal

[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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Academic Journal

[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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Academic Journal

[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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Academic Journal

[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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Academic Journal

[Analysis of ADAR gene variants in a Chinese pedigree affected with Dyschromatosis symmetrica hereditaria in conjunct with developmental delay].

  • Authors : Zhang Y; Henan Provincial Key Laboratory for Pediatric Epilepsy and Immunomedicine, Henan Provincial Clinical Diagnosis and Treatment Center for Children's Neurological Diseases, Children's Hospital of the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. .; Chen Z

Subjects: Adenosine Deaminase*/Adenosine Deaminase*/Adenosine Deaminase*/genetics ; Developmental Disabilities*/Developmental Disabilities*/Developmental Disabilities*/genetics ; Pedigree* Dyschromatosis symmetrica hereditaria 1

  • 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 May Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

[Analysis of genetic etiology in a patient with 1p36 deletion syndrome in conjunct with Snijders Blok-Campeau syndrome].

  • Authors : Chen H; School of Public Health, Gansu University of Traditional Chinese Medicine, Lanzhou, Gansu 730030, China. .; Zhang C

Subjects: Chromosome Disorders* ; Hypertelorism* ; Intellectual Disability* Chromosome 1p36 Deletion Syndrome; Snijders Blok-Campeau syndrome

  • 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 Mar Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

[A case of immunoskeletal dysplasia with neurodevelopmental abnormalities].

  • Authors : Lin QQ; Department of Neonatology, Xiamen Hospital (Xiamen Children's Hospital), Children's Hospital of Fudan University, Xiamen 361000, China.; Wu XY

Subjects: Developmental Disabilities* ; Bronchopulmonary Dysplasia*; Humans

  • Source: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2024 Jan 02; Vol. 62 (1), pp. 76-77.Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium:

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Academic Journal

[Genetic analysis of a child with developmental disorder and epilepsy due to a homozygous variant of PIGW gene].

  • Authors : Zeng J; Operation Room, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong 510623, China. .; Tian Y

Subjects: Developmental Disabilities* ; Epilepsy*/Epilepsy*/Epilepsy*/genetics; Child, Preschool

  • 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] 2023 Oct Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

[Identification of a NONO gene variant in a child with congenital heart disease and global developmental delay].

  • Authors : Lei Y; Fujian Maternity and Child Health Care Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian 350005, China. .; Peng X

Subjects: Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/genetics ; Developmental Disabilities*/Developmental Disabilities*/Developmental Disabilities*/genetics; Humans

  • 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] 2023 Jun Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Bainbridge-Ropers syndrome].

  • Authors : Li J; Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. .; Xu J

Subjects: Developmental Disabilities*/Developmental Disabilities*/Developmental Disabilities*/diagnosis ; Developmental Disabilities*/Developmental Disabilities*/Developmental Disabilities*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/diagnosis

  • 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] 2022 Nov Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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  • 1-10 of  266 results for ""DEVELOPMENTAL disabilities""