Found: 22
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The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Young Children Allergic Rhinitis Questionnaire is a novel tool for allergy screening in children.
- Published in:
- Pediatric Allergy & Immunology, 2022, v. 33, n. 2, p. 1, doi. 10.1111/pai.13738
- By:
- Publication type:
- Article
A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13039-019-0463-z
- By:
- Publication type:
- Article
Whole‐exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non‐compaction cardiomyopathy.
- Published in:
- Pediatric Investigation, 2020, v. 4, n. 1, p. 11, doi. 10.1002/ped4.12183
- By:
- Publication type:
- Article
Novel HMGCS2 pathogenic variants in a Chinese family with mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency.
- Published in:
- Pediatric Investigation, 2019, v. 3, n. 2, p. 86, doi. 10.1002/ped4.12130
- By:
- Publication type:
- Article
Compound heterozygous variants in POR gene identified by whole‐exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency.
- Published in:
- Pediatric Investigation, 2018, v. 2, n. 2, p. 90, doi. 10.1002/ped4.12035
- By:
- Publication type:
- Article
BLOS1 mediates kinesin switch during endosomal recycling of LDL receptor.
- Published in:
- eLife, 2020, p. 1, doi. 10.7554/eLife.58069
- By:
- Publication type:
- Article
Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02975-0
- By:
- Publication type:
- Article
Exome sequencing as the first‐tier test for pediatric respiratory diseases: A single‐center study.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 891, doi. 10.1002/humu.24216
- By:
- Publication type:
- Article
Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.677699
- By:
- Publication type:
- Article
A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P<sub>2</sub> and causes lysosome acidification and hypopigmentation.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-35786-9
- By:
- Publication type:
- Article
A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.828
- By:
- Publication type:
- Article
Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests.
- Published in:
- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1108440
- By:
- Publication type:
- Article
Biological implications of genetic variations in autism spectrum disorders from genomics studies.
- Published in:
- Bioscience Reports, 2021, v. 41, n. 7, p. 1, doi. 10.1042/BSR20210593
- By:
- Publication type:
- Article
A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.759308
- By:
- Publication type:
- Article
Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.
- Published in:
- 2021
- By:
- Publication type:
- journal article
HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells.
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.560110
- By:
- Publication type:
- Article
The endocrine disruptor mono-(2-ethylhexyl) phthalate promotes adipocyte differentiation and induces obesity in mice.
- Published in:
- Bioscience Reports, 2012, v. 32, n. 6, p. 619, doi. 10.1042/BSR20120042
- By:
- Publication type:
- Article
Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders.
- Published in:
- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00473
- By:
- Publication type:
- Article
MicroRNA-181b and microRNA-9 mediate arsenic-induced angiogenesis via NRP1.
- Published in:
- Journal of Cellular Physiology, 2012, v. 227, n. 2, p. 772, doi. 10.1002/jcp.22789
- By:
- Publication type:
- Article
Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01662-0
- By:
- Publication type:
- Article
Case Report : Li-Fraumeni Syndrome with Central Nervous System Tumors in Two Siblings.
- Published in:
- 2021
- By:
- Publication type:
- journal article