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Academic Journal

[DNM1L gene variant caused encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1: three cases report and literature review].

  • Authors : Pan Z; Department of Pediatrics, Hunan Intellectual and Developmental Disabilities Research Center, Xiangya Hospital of Central South University, Changsha 410008, China.; Wu TH

Subjects: Brain Diseases*/Brain Diseases*/Brain Diseases*/genetics ; Mitochondrial Dynamics*; Child

  • Source: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2021 May 02; Vol. 59 (5), pp. 400-406.Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium:

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Academic Journal

[Novel DYRK1A mutations in 2 individuals with autosomal dominant mental retardation-7].

  • Authors : Zou XM; Department of Pediatrics, Xiangya Hospital of Central South University, Hunan Intellectual and Developmental Disabilities Research Center, Changsha 410008, China.; Xiao H

Subjects: Intellectual Disability/Intellectual Disability/Intellectual Disability/*genetics ; Protein Serine-Threonine Kinases/Protein Serine-Threonine Kinases/Protein Serine-Threonine Kinases/*genetics ; Protein-Tyrosine Kinases/Protein-Tyrosine Kinases/Protein-Tyrosine Kinases/*genetics

  • Source: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2019 Oct 02; Vol. 57 (10), pp. 804-806.Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium:

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Academic Journal

[A case of Okur-Chung syndrome caused by CSNK2A1 gene variation and review of literature].

  • Authors : Duan HL; Department of Pediatrics, Xiangya Hospital of Central South University/Hunan Intellectual and Developmental Disabilities Research Center, Changsha 410008, China.; Peng J

Subjects: Intellectual Disability* ; Muscle Hypotonia*; Mutation/Mutation/Mutation/*genetics

  • Source: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2019 May 02; Vol. 57 (5), pp. 368-372.Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium:

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Academic Journal

[Clinical analysis of 71 cases of anti-N-methyl-D-aspartate receptor encephalitis in children].

  • Authors : Wang GL; Department of Pediatrics, Xiangya Hospital of Central South University, Hunan Intellectual and Developmental Disabilities Research Center, Changsha 410008, China.; Yin F

Subjects: Anti-N-Methyl-D-Aspartate Receptor Encephalitis*; Adolescent ; Brain

  • Source: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2019 Feb 02; Vol. 57 (2), pp. 125-130.Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium:

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Academic Journal

[ORAI1 variation induced combined immunodeficiency: a case report and literature review].

  • Authors : Yang HY; Department of Pediatrics, Xiangya Hospital of Central South University; Hunan Intellectual and Developmental Disabilities Research Center, Changsha 410008, China.

Subjects: Immunologic Deficiency Syndromes*/Immunologic Deficiency Syndromes*/Immunologic Deficiency Syndromes*/genetics; ORAI1 Protein/ORAI1 Protein/ORAI1 Protein/*genetics; China

  • Source: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2019 Feb 02; Vol. 57 (2), pp. 142-145.Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium:

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Academic Journal

[A childhood-onset rapid-onset dystonia parkinsonism family with ATP1A3 gene mutation and literatures review].

  • Authors : Zhang CL; Department of Pediatrics, Xiangya Hospital of Central South University/Hunan Intellectual and Developmental Disabilities Research Center, Changsha 410008, China.; Yin F

Subjects: Dystonic Disorders/Dystonic Disorders/Dystonic Disorders/*genetics ; Sodium-Potassium-Exchanging ATPase/Sodium-Potassium-Exchanging ATPase/Sodium-Potassium-Exchanging ATPase/*genetics; Child, Preschool Dystonia 12

  • Source: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2017 Apr 02; Vol. 55 (4), pp. 288-293.Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium:

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Academic Journal

[A novel mutation in KCNB1 gene in a child with neuropsychiatric comorbidities with both intellectual disability and epilepsy and review of literature].

  • Authors : Miao P; Department of Pediatrics, Xiangya Hospital of Central South University/Hunan Intellectual and Developmental Disabilities Research Center, Changsha 410008, China.; Peng J

Subjects: Mutation*; Epilepsy/Epilepsy/Epilepsy/*genetics ; Intellectual Disability/Intellectual Disability/Intellectual Disability/*complications

  • Source: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2017 Feb 02; Vol. 55 (2), pp. 115-119.Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium:

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Academic Journal

[Dynamin-1-related infantile spasms: a case report and review of literature].

  • Authors : Deng XL; Department of Pediatrics, Xiangya Hospital of Central South University, Hunan Intellectual and Developmental Disabilities Research Center, Changsha 410008, China.; Yin F

Subjects: Dynamin I/Dynamin I/Dynamin I/*genetics ; Spasms, Infantile/Spasms, Infantile/Spasms, Infantile/*genetics; Child

  • Source: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2016 Nov 02; Vol. 54 (11), pp. 856-859.Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium:

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Academic Journal

[Clinical features and genome-wide copy number variation analysis in 60 children with early-onset epileptic encephalopathies of unknown cause].

  • Authors : Ma YP; Department of Pediatrics, Xiangya Hospital of Central South University/Hunan Intellectual and Developmental Disabilities Research Center, Changsha 410008, China. .; Peng J

Subjects: DNA Copy Number Variations*; Spasms, Infantile/Spasms, Infantile/Spasms, Infantile/*genetics; Child

  • Source: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2014 Nov; Vol. 16 (11), pp. 1100-4.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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  • 1-9 of  9 results for ""DEVELOPMENTAL disabilities""