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Format : Academic Journals Format : Academic Journals Format : Primary Source Documents Subject : autism Subject : brain diseases Subject : fcmri Filter by : Subject
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Academic Journal

A case of treatable encephalopathy, developmental regression, and proximal tremor.

  • Authors : Hull M; Pediatric Movement Disorders Clinic, Blue Bird Circle Clinic for Pediatric Neurology, Section of Pediatric Neurology and Developmental Neuroscience, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA. Electronic address: .; Emrick L

Subjects: Brain Diseases/Brain Diseases/Brain Diseases/*drug therapy ; Developmental Disabilities/Developmental Disabilities/Developmental Disabilities/*drug therapy ; Dystonic Disorders/Dystonic Disorders/Dystonic Disorders/*congenital Segawa syndrome, autosomal recessive

  • Source: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2021 Dec; Vol. 93, pp. 111-113. Date of Electronic Publication: 2021 Dec 14.Publisher: Elsevier Science Country of Publication: England NLM ID: 9513583 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy.

  • Authors : Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.; Zwoliński P

Subjects: Brain Diseases/Brain Diseases/Brain Diseases/*genetics ; Developmental Disabilities/Developmental Disabilities/Developmental Disabilities/*genetics ; Intellectual Disability/Intellectual Disability/Intellectual Disability/*genetics

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Nov; Vol. 185 (11), pp. 3384-3389. Date of Electronic Publication: 2021 Aug 27.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

POTENTIAL RISK OF BRAIN DAMAGE AND POOR DEVELOPMENTAL OUTCOMES IN CHILDREN PRENATALLY EXPOSED TO SARS-COV-2: A SYSTEMATIC REVIEW.

Subjects: SARS-CoV-2*; Brain Diseases/Brain Diseases/Brain Diseases/*etiology ; Developmental Disabilities/Developmental Disabilities/Developmental Disabilities/*etiology

  • Source: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo [Rev Paul Pediatr] 2021 May 26; Vol. 40, pp. e2020415. Date of Electronic Publication: 2021 MayPublisher: Sociedade De Pediatria De Sao Paulo Country of Publication: Brazil NLM ID: 9109353 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Rates of rare copy number variants in different circumstances among patients with genetic developmental and epileptic encephalopathy.

  • Authors : Lee S; Department of Pediatrics, Chonnam National University Children's Hospital, Gwangju, Republic of Korea.; Kim BR

Subjects: Brain Diseases*/Brain Diseases*/Brain Diseases*/complications ; Brain Diseases*/Brain Diseases*/Brain Diseases*/genetics ; DNA Copy Number Variations*

  • Source: Science progress [Sci Prog] 2022 Oct-Dec; Vol. 105 (4), pp. 368504221131233.Publisher: SAGE Publications Country of Publication: England NLM ID: 0411361 Publication Model: Print Cited Medium: Internet ISSN: 2047-7163

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Academic Journal

Developmental and epileptic encephalopathies: what we do and do not know.

  • Authors : Specchio N; Department of Neuroscience, Bambino Gesu Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies EpiCARE, Piazza S, 00165 Rome, Italy.; Curatolo P

Subjects: Brain Diseases/Brain Diseases/Brain Diseases/*genetics ; Developmental Disabilities/Developmental Disabilities/Developmental Disabilities/*genetics ; Epilepsy/Epilepsy/Epilepsy/*genetics

  • Source: Brain : a journal of neurology [Brain] 2021 Feb 12; Vol. 144 (1), pp. 32-43.Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

A Middle-aged Woman With Severe Scoliosis and Encephalopathy.

  • Authors : Mohan G; Human Molecular Cytogenetics and Stem Cell Laboratory, Department of Human Genetics and Molecular Biology, Bharathiar University, Coimbatore, Tamil Nadu, India.; Bharathi G

Subjects: Brain Diseases/Brain Diseases/Brain Diseases/*diagnostic imaging ; Developmental Disabilities/Developmental Disabilities/Developmental Disabilities/*diagnostic imaging ; Rett Syndrome/Rett Syndrome/Rett Syndrome/*diagnostic imaging

  • Source: JAMA neurology [JAMA Neurol] 2021 Feb 01; Vol. 78 (2), pp. 251-252.Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.

  • Authors : Coolen M; Université Paris Cité, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris 75015, France. Electronic address: .; Altin N

Subjects: Brain Diseases*/Brain Diseases*/Brain Diseases*/pathology ; Zebrafish*/Zebrafish*/Zebrafish*/metabolism; Animals Cerebellar Hypoplasia

  • Source: American journal of human genetics [Am J Hum Genet] 2022 May 05; Vol. 109 (5), pp. 909-927. Date of Electronic Publication: 2022 Apr 06.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.

  • Authors : Matricardi S; Department of Child Neuropsychiatry, Children's Hospital, Ancona, Italy.; De Liso P

Subjects: Brain Diseases/Brain Diseases/Brain Diseases/*genetics ; Developmental Disabilities/Developmental Disabilities/Developmental Disabilities/*genetics ; Epilepsy/Epilepsy/Epilepsy/*genetics

  • Source: Epilepsia [Epilepsia] 2020 Nov; Vol. 61 (11), pp. 2474-2485. Date of Electronic Publication: 2020 Oct 16.Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Distinct genetic patterns of shared and unique genes across four neurodevelopmental disorders.

  • Authors : Zhang Y; Reproductive Center, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.; Wang R

Subjects: Autism Spectrum Disorder/Autism Spectrum Disorder/Autism Spectrum Disorder/*genetics ; Brain Diseases/Brain Diseases/Brain Diseases/*genetics ; Developmental Disabilities/Developmental Disabilities/Developmental Disabilities/*genetics

  • Source: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235742 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Clinical phenotype associated with TANGO2 gene mutation.

  • Authors : Hoebeke C; Inborn Error of Metabolism Reference Centre, La Timone Teaching Hospital, 264, rue Saint-Pierre, 13385 Marseille, France. Electronic address: .; Cano A

Subjects: Arrhythmias, Cardiac/Arrhythmias, Cardiac/Arrhythmias, Cardiac/*diagnosis ; Aryl Hydrocarbon Receptor Nuclear Translocator/Aryl Hydrocarbon Receptor Nuclear Translocator/Aryl Hydrocarbon Receptor Nuclear Translocator/*genetics ; Brain Diseases/Brain Diseases/Brain Diseases/*diagnosis

  • Source: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie [Arch Pediatr] 2021 Jan; Vol. 28 (1), pp. 80-86. Date of Electronic Publication: 2020 Dec 17.Publisher: Elsevier Country of Publication: France NLM ID: 9421356 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1769-664X

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  • 1-10 of  19,746 results for ""DEVELOPMENTAL disabilities""