198 results on '"Yao, Ruen"'
Search Results
2. Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia
3. Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities
4. Clinical and Genetic Profile of Chinese Children With Danon Disease: A Single-Center Retrospective Cohort Study
5. SINE-VNTR-Alu retrotransposon insertion as a novel mutational event underlying Glanzmann thrombasthenia
6. NEIL3 contributes to the Fanconi anemia/BRCA pathway by promoting the downstream double-strand break repair step
7. Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study
8. Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6
9. CNV profiles of Chinese pediatric patients with developmental disorders
10. Further delineation of primary B cell immunodeficiency caused by novel variants of the BLNK gene in two Chinese patients
11. A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report
12. Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report
13. Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG)
14. Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure
15. Psychomotor development and attention problems caused by a splicing variant of CNKSR2
16. Clinical and Molecular Characterization of a Patient with Generalized Arterial Calcification of Infancy Caused by Rare ABCC6 Mutation.
17. Concurrent occurrence of a de novo MACF1 mutation and an inherited 16p13.11 microduplication in a preterm neonate with multiple congenital malformations, hypotonia, excessive joint activity, feeding difficulties and respiratory problems：a case report
18. Germline Neurofibromin 1 mutation enhances the anti‐tumour immune response and decreases juvenile myelomonocytic leukaemia tumourigenicity
19. Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture
20. De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype
21. TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report
22. Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment
23. Defective Joint Development and Maintenance inGDF6‐Related Multiple Synostoses Syndrome
24. Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients
25. Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease
26. Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case report
27. Neurodevelopmental disorders and anti-epileptic treatment in a patient with a SATB1 mutation: A case report
28. Human iPSC-derived neuron of 16p11.2 deletion reveals haplotype-specific expression of MAPK3 and its contribution to variable NDD phenotypes
29. Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature
30. Defective Joint Development and Maintenance in GDF6‐Related Multiple Synostoses Syndrome.
31. Study of novel NARS2 variants in patient of combined oxidative phosphorylation deficiency 24
32. Study of novel RARS2 variations updating awareness of diagnosis and pathogenesis of pontocerebellar hypoplasia type 6
33. Case Report: A Relatively Mild Phenotype Produced by Novel Mutations in the SEPSECS Gene
34. Cochlear implantation in a Chinese patient with a novel frameshift variant in POU3F4 gene and incomplete partition type III: a case report
35. Clinical Characteristics and Survival of Children with Hypertrophic Cardiomyopathy in China: A Multicentre Retrospective Cohort Study
36. Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children
37. Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort
38. Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature
39. Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C‐terminal truncation syndrome: Case report and literature review
40. Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort
41. Additional file 1 of Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report
42. Additional file 1 of A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report
43. Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis
44. Additional file 1 of Psychomotor development and attention problems caused by a splicing variant of CNKSR2
45. Further delineation of bone marrow failure syndrome caused by novel compound heterozygous variants of MYSM1
46. TRPS1 mutation detection in Chinese patients with Tricho‐rhino‐phalangeal syndrome and identification of four novel mutations
47. Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy
48. Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C‐terminal truncation syndrome: Case report and literature review.
49. Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature
50. Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children
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