Found: 39
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Natural history and outcome of nonketotic hyperglycinemia in China.
- Published in:
- Frontiers in Neurology, 2024, p. 01, doi. 10.3389/fneur.2024.1440883
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- Article
Clinical characteristics and prognosis of early diagnosed Wilson's disease: A large cohort study.
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- Liver International, 2024, v. 44, n. 9, p. 2424, doi. 10.1111/liv.16009
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- Article
Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family.
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- Calcified Tissue International, 2023, v. 113, n. 3, p. 266, doi. 10.1007/s00223-023-01104-0
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- Article
Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.
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- Pediatric Nephrology, 2024, v. 39, n. 8, p. 2377, doi. 10.1007/s00467-024-06356-y
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- Article
Attitude of Medical School Students in China Towards Genetic Testing and Counseling Issues in FXS.
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- Journal of Genetic Counseling, 2013, v. 22, n. 6, p. 733, doi. 10.1007/s10897-013-9634-y
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- Article
Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome.
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- Frontiers in Genetics, 2023, v. 14, p. 01, doi. 10.3389/fgene.2023.1085210
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- Publication type:
- Article
Glucose-6-Phosphate dehydrogenase deficiency associated hemolysis in a cohort of new onset type 1 diabetes children in Guangdong province, China.
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- Diabetology & Metabolic Syndrome, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13098-022-00812-1
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- Article
Comparative Effects of Exosomes and Ectosomes Isolated From Adipose-Derived Mesenchymal Stem Cells on Achilles Tendinopathy in a Rat Model.
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- American Journal of Sports Medicine, 2022, v. 50, n. 10, p. 2740, doi. 10.1177/03635465221108972
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- Article
Decreased expression of MicroRNA-200 family in human breast cancer is associated with lymph node metastasis.
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- Clinical & Translational Oncology, 2016, v. 18, n. 3, p. 283, doi. 10.1007/s12094-015-1364-1
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- Article
In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.
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- 2022
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- journal article
Corrigendum for Li D, Lin Y, Huang Y, et al (2018) https://doi.org/10.1002/pd.5329.
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- 2019
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- Publication type:
- journal article
Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis.
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- 2018
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- Publication type:
- journal article
Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets.
- Published in:
- Calcified Tissue International, 2022, v. 110, n. 2, p. 266, doi. 10.1007/s00223-021-00909-1
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- Publication type:
- Article
'Isolated' germline mosaicism in the phenotypically normal father of a girl with X-linked hypophosphatemic rickets.
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- European Journal of Endocrinology, 2020, v. 182, n. 1, p. K1, doi. 10.1530/EJE-19-0472
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- Article
A Metaheuristic Hybrid of Double-Target Multi-Layer Perceptron for Energy Performance Analysis in Residential Buildings.
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- Buildings (2075-5309), 2023, v. 13, n. 4, p. 1086, doi. 10.3390/buildings13041086
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- Article
The third case of Marbach‐Rustad progeroid syndrome caused by a de novo LEMD2 variant.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 209, doi. 10.1111/cge.14441
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- Article
The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant.
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- Clinical Genetics, 2022, v. 102, n. 3, p. 246, doi. 10.1111/cge.14178
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- Article
A novel homozygous splice‐site variant of NCAPD2 gene identified in two siblings with primary microcephaly: The second case report.
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- Clinical Genetics, 2019, v. 96, n. 1, p. 98, doi. 10.1111/cge.13559
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- Article
Features of liver injury in 138 Chinese patients with NICCD.
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- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 12, p. 1154, doi. 10.1515/jpem-2023-0026
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- Article
Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review.
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- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 1, p. 74, doi. 10.1515/jpem-2022-0372
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- Article
Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.
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- 2019
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- Publication type:
- journal article
Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review.
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- 2020
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- Publication type:
- journal article
Assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children.
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- 2022
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- Publication type:
- journal article
Somatic and germline FOXP3 mosaicism in the mother of a boy with IPEX syndrome.
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- European Journal of Immunology, 2018, v. 48, n. 5, p. 885, doi. 10.1002/eji.201747445
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- Publication type:
- Article
Activation of mTOR Ameliorates Fragile X Premutation rCGG Repeat-Mediated Neurodegeneration.
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- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0062572
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- Article
Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03210-0
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- Article
Novel compound heterozygous variant of GJA8 gene in two siblings with congenital cataract mimics an autosomal recessive trait.
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- European Journal of Ophthalmology, 2023, v. 33, n. 5, p. NP1, doi. 10.1177/11206721221132874
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- Article
Molecular diagnosis of maturity‐onset diabetes of the young in a cohort of Chinese children.
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- Pediatric Diabetes, 2020, v. 21, n. 3, p. 431, doi. 10.1111/pedi.12985
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- Publication type:
- Article
Comparison of the ability of exosomes and ectosomes derived from adipose-derived stromal cells to promote cartilage regeneration in a rat osteochondral defect model.
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- Stem Cell Research & Therapy, 2024, v. 15, n. 1, p. 1, doi. 10.1186/s13287-024-03632-4
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- Article
Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants.
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- Metabolic Brain Disease, 2024, v. 39, n. 5, p. 753, doi. 10.1007/s11011-024-01348-1
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- Article
Brain abnormalities in fucosidosis: transplantation or supportive therapy?
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- Metabolic Brain Disease, 2017, v. 32, n. 2, p. 317, doi. 10.1007/s11011-017-9968-5
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- Article
Chinese family with Blau syndrome: Mutated NOD2 allele transmitted from the father with de novo somatic and germ line mosaicism.
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- Journal of Dermatology, 2020, v. 47, n. 11, p. e395, doi. 10.1111/1346-8138.15563
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- Article
5-Hydroxymethylation-associated epigenetic modifiers of Alzheimer's disease modulate Tau-induced neurotoxicity.
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- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2437, doi. 10.1093/hmg/ddw109
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- Article
Clinical features and mutational analysis in 114 young children with Wilson disease from South China.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1451, doi. 10.1002/ajmg.a.61254
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- Article
Inhibition of Transglutaminase Exacerbates Polyglutamine-Induced Neurotoxicity by Increasing the Aggregation of Mutant Ataxin-3 in an SCA3 Drosophila Model.
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- Neurotoxicity Research, 2015, v. 27, n. 3, p. 259, doi. 10.1007/s12640-014-9506-8
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- Article
Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China.
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- Journal of Clinical Research in Pediatric Endocrinology, 2019, v. 11, n. 4, p. 400, doi. 10.4274/jcrpe.galenos.2019.2019.0046
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- Article
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia.
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- PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0149039
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- Article
Features of chinese patients with sitosterolemia.
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- Lipids in Health & Disease, 2022, v. 21, n. 1, p. 1, doi. 10.1186/s12944-021-01619-1
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- Publication type:
- Article
Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY).
- Published in:
- 2018
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- Publication type:
- journal article