Found: 21
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Folic acid supplementation, preconception body mass index, and preterm delivery: findings from the preconception cohort data in a Chinese rural population.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.576235
- By:
- Publication type:
- Article
Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1682
- By:
- Publication type:
- Article
Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1004
- By:
- Publication type:
- Article
Novel mutations in HSF4 cause congenital cataracts in Chinese families.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0636-3
- By:
- Publication type:
- Article
Novel compound heterozygous variants in ARL13B lead to Joubert syndrome.
- Published in:
- Journal of Cellular Physiology, 2024, v. 239, n. 4, p. 1, doi. 10.1002/jcp.31189
- By:
- Publication type:
- Article
A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
RAF dimer inhibition enhances the antitumor activity of MEK inhibitors in K‐RAS mutant tumors.
- Published in:
- Molecular Oncology, 2020, v. 14, n. 8, p. 1833, doi. 10.1002/1878-0261.12698
- By:
- Publication type:
- Article
Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02742-1
- By:
- Publication type:
- Article
Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01130-x
- By:
- Publication type:
- Article
Mutation screening of crystallin genes in Chinese families with congenital cataracts.
- Published in:
- Molecular Vision, 2019, v. 25, p. 427
- By:
- Publication type:
- Article
Trajectories of peripheral white blood cells count around the menopause: a prospective cohort study.
- Published in:
- BMC Women's Health, 2024, p. 1, doi. 10.1186/s12905-024-03344-0
- By:
- Publication type:
- Article
The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China.
- Published in:
- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00475-7
- By:
- Publication type:
- Article
Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.
- Published in:
- Journal of Clinical Laboratory Analysis, 2021, v. 35, n. 1, p. 1, doi. 10.1002/jcla.23567
- By:
- Publication type:
- Article
Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome.
- Published in:
- Journal of Clinical Laboratory Analysis, 2020, v. 34, n. 9, p. 1, doi. 10.1002/jcla.23407
- By:
- Publication type:
- Article
Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants.
- Published in:
- Ophthalmic Research, 2024, v. 67, n. 1, p. 62, doi. 10.1159/000535788
- By:
- Publication type:
- Article
Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-69565-z
- By:
- Publication type:
- Article
Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II.
- Published in:
- BMC Medical Genomics, 2021, v. 14, p. 1, doi. 10.1186/s12920-021-01027-5
- By:
- Publication type:
- Article
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.869210
- By:
- Publication type:
- Article
Functional collagen conduits combined with human mesenchymal stem cells promote regeneration after sciatic nerve transection in dogs.
- Published in:
- Journal of Tissue Engineering & Regenerative Medicine, 2018, v. 12, n. 5, p. 1285, doi. 10.1002/term.2660
- By:
- Publication type:
- Article
A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype.
- Published in:
- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/6661860
- By:
- Publication type:
- Article