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Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
- Published in:
- PLoS ONE, 2018, v. 13, n. 2, p. 1, doi. 10.1371/journal.pone.0188869
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- Publication type:
- Article
A study on the interaction of mud acid with rock for chemical stimulation in an enhanced geothermal system.
- Published in:
- Environmental Earth Sciences, 2016, v. 75, n. 12, p. 1, doi. 10.1007/s12665-016-5827-7
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- Publication type:
- Article
Critical geometric parameters of slope and their sensitivity analysis: a case study in Jilin, Northeast China.
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- Environmental Earth Sciences, 2016, v. 75, n. 9, p. 1, doi. 10.1007/s12665-016-5623-4
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- Publication type:
- Article
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.
- Published in:
- 2019
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- Publication type:
- journal article
Novel MEF2C point mutations in Chinese patients with Rett (−like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0699-1
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- Publication type:
- Article
SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.
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- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0460-1
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- Publication type:
- Article
Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.
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- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0455-y
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- Publication type:
- Article
DYT28 Responsive to Pallidal Deep Brain Stimulation.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 1, p. 97, doi. 10.1002/mdc3.12862
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- Publication type:
- Article
Pediatric Autoimmune Encephalitis: Case Series From Two Chinese Tertiary Pediatric Neurology Centers.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00906
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- Publication type:
- Article
Seizure Outcome and Its Prognostic Predictors After Hemispherotomy in Children With Refractory Epilepsy in a Chinese Pediatric Epileptic Center.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00880
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- Publication type:
- Article
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
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- European Journal of Human Genetics, 2013, v. 21, n. 3, p. 266, doi. 10.1038/ejhg.2012.156
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- Publication type:
- Article
RNAi-induced down-regulation of Mecp2 expression in the rat brain
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- International Journal of Developmental Neuroscience, 2008, v. 26, n. 5, p. 457, doi. 10.1016/j.ijdevneu.2008.02.009
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- Publication type:
- Article
Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.683255
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- Publication type:
- Article
First-principles study on the structural, phonon, and thermodynamic properties of the ternary carbides in Ti-Al-C system.
- Published in:
- Physica Status Solidi. A: Applications & Materials Science, 2011, v. 208, n. 8, p. 1879, doi. 10.1002/pssa.201127020
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- Publication type:
- Article
Familial cases and male cases with MECP2 mutations.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 4, p. 451, doi. 10.1002/ajmg.b.32534
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- Publication type:
- Article
MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 3, p. 240, doi. 10.1111/cge.13790
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- Publication type:
- Article
A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 5, p. 789, doi. 10.1111/cge.13695
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- Publication type:
- Article
MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males.
- Published in:
- BMC Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12916-023-02846-2
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- Publication type:
- Article
Gene delivery into primary cerebral cortical neurons by lentiviral vector
- Published in:
- Cell Biology International, 2006, v. 30, n. 10, p. 777, doi. 10.1016/j.cellbi.2006.05.010
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- Publication type:
- Article
Pneumocystis Pneumonia during Rituximab Treatment in Children with Autoimmune Nerve System Diseases.
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- Journal of NeuroImmune Pharmacology, 2018, v. 13, n. 3, p. 277, doi. 10.1007/s11481-018-9791-8
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- Publication type:
- Article
Novel CAD gene mutations in a boy with developmental and epileptic encephalopathy 50 with dramatic response to uridine therapy: a case report and a review of the literature.
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- BMC Pediatrics, 2024, v. 23, n. 2, p. 1, doi. 10.1186/s12887-024-04593-6
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- Publication type:
- Article
MECP2 duplication syndrome in a Chinese family.
- Published in:
- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0264-0
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- Publication type:
- Article
Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-24
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- Publication type:
- Article
Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children.
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- Developmental Medicine & Child Neurology, 2023, v. 65, n. 3, p. 416, doi. 10.1111/dmcn.15385
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- Publication type:
- Article
Resourceful and creative methods are necessary to research rare disorders.
- Published in:
- Developmental Medicine & Child Neurology, 2013, v. 55, n. 9, p. 870, doi. 10.1111/dmcn.12164
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- Publication type:
- Article
Using a large international sample to investigate epilepsy in Rett syndrome.
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- Developmental Medicine & Child Neurology, 2013, v. 55, n. 6, p. 553, doi. 10.1111/dmcn.12093
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- Publication type:
- Article
Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample.
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- Journal of Neurology, 2009, v. 256, n. 8, p. 1277, doi. 10.1007/s00415-009-5114-6
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- Publication type:
- Article
CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia.
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- Movement Disorders, 2023, v. 38, n. 7, p. 1282, doi. 10.1002/mds.29412
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- Publication type:
- Article
Hydrogenation mechanism in lanthanum-activated magnesium films.
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- Applied Physics A: Materials Science & Processing, 2011, v. 102, n. 3, p. 739, doi. 10.1007/s00339-010-5976-6
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- Publication type:
- Article
Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS).
- Published in:
- 2020
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- Publication type:
- journal article
Association between genetic variation of CACNA1H and childhood absence epilepsy.
- Published in:
- Annals of Neurology, 2003, v. 54, n. 2, p. 239
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- Publication type:
- Article
Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review.
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- 2016
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- Publication type:
- Case Study
Genetic analysis and prenatal diagnosis of 76 Chinese families with X‐linked adrenoleukodystrophy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 1, p. 1, doi. 10.1002/mgg3.1844
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- Publication type:
- Article
Rett and Rett‐like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.968
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- Publication type:
- Article
Disseminated Encephalomyelitis-Like Central Nervous System Neoplasm in Childhood.
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- Journal of Child Neurology, 2014, v. 29, n. 8, p. NP28, doi. 10.1177/0883073813495444
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- Publication type:
- Article
Analysis of the Parental Origin of De Novo MECP2 Mutations and X Chromosome Inactivation in 24 Sporadic Patients With Rett Syndrome in China.
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- Journal of Child Neurology, 2010, v. 25, n. 7, p. 842, doi. 10.1177/0883073809350722
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- Publication type:
- Article
Phaeohyphomycosis of the Central Nervous System Caused by Exophiala dermatitidis in a 3-Year-Old Immunocompetent Host.
- Published in:
- Journal of Child Neurology, 2009, v. 24, n. 3, p. 342, doi. 10.1177/0883073808323524
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- Publication type:
- Article
Partial Seizures and Atypical Absence Seizures as a Single Ictal Event in a Patient With Lennox-Gastaut Syndrome.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 11, p. 139, doi. 10.1177/0883073808318055
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- Publication type:
- Article
X Chromosome Inactivation in Rett Syndrome and Its Correlations With MeCP2 Mutations and Phenotype.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 1, p. 22, doi. 10.1177/0883073807307077
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- Publication type:
- Article
Ultrasound-guided interlaminar approach for nusinersen administration in patients with spinal muscular atrophy with spinal fusion or severe scoliosis.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02630-8
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- Publication type:
- Article