308 results on '"Zhang, Victor Wei"'
Search Results
52. B-lymphocyte deficiency and recurrent respiratory infections in a 6-month-old female infant with mosaic monosomy 7
53. Mutation Update for UBE3A Variants in Angelman Syndrome
54. Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders
55. Mesenchymal stem cells from different sources show distinct therapeutic effects in hyperoxia‐induced bronchopulmonary dysplasia in rats
56. Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China
57. Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in AGK Gene
58. Simultaneous detection of copy number and single nucleotide variations improves diagnostic yield of fetuses with ultrasound anomalies and normal karyotypes
59. Massively parallel sequencing for diagnosing clinically and genetically heterogeneous disorders
60. Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects
61. Determination of the Clinical Significance of an Unclassified Variant
62. Accurate Identification of Breakpoints in a Cryptic Reciprocal Translocation by Whole-Genome Sequencing.
63. Identification of thalassemia gene cluster deletion by long‐read whole‐genome sequencing (LR‐WGS)
64. Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes
65. Prenatal phenotypic discordance in monozygotic twins due to a postzygotic TSC2 variant
66. Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa
67. Corrigendum to “Profiling of mitochondrial genomes in SCA3/MJD patients from mainland China” [Gene 738 (2020) 144487]
68. Profiling of mitochondrial genomes in SCA3/MJD patients from mainland China
69. L1CAM mutations in three fetuses diagnosed by medical exome sequencing
70. Multisystem Mitochondrial Disease Associated With a Mare m.10000G>A Mitochondrial tRNA Gly (MT-TG) Variant.
71. De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism
72. Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management
73. Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness – a case report for dual diagnosis
74. eP483 - Simultaneous detection of copy number and single nucleotide variations improves diagnostic yield of fetuses with ultrasound anomalies and normal karyotypes
75. Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasia
76. Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE
77. A Rare Hb H Hydrops Fetalis Syndrome Caused by the – –SEA Deletion in Combination with the Rare Hb Hirosaki Mutation in a Chinese Patient
78. L1CAMmutations in three fetuses diagnosed by medical exome sequencing
79. Precision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases
80. Genetic evidence of ‘genuine’ empty follicle syndrome: a novel effective mutation in the LHCGR gene and review of the literature
81. Prenatal phenotypic discordance in monozygotic twins due to a postzygotic TSC2 variant.
82. Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE.
83. Advantages of highly sensitive NGS based test to detect low levels of mtDNA mutations and large deletions
84. Identification of new FBXL4 patients with mitochondrial disorders
85. Detection of mosaic mutations by next generation sequencing in genetic diseases with any mode of inheritance
86. Abstract 5264: A novel strategy for accuurate and unambiguous mutation detection of the highly homologous PMS2 gene
87. Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS
88. Genetic evidence of 'genuine' empty follicle syndrome: a novel effective mutation in the LHCGR gene and review of the literature.
89. A novelEBPc.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2
90. A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies
91. Enhanced detection sensitivity and diagnostic yield for mtDNA deletion syndrome by massively parallel sequencing
92. Lessons learned from the analyses of 1500 mitochondrial genomes by NGS
93. Improved diagnosis of mitochondrial disorders by next generation sequencing approach
94. Analysis of mtDNA multiple deletions in 209 muscle specimens using massively parallel sequencing (MPS)
95. Targeted massively parallel sequencing detects exonic copy number changes in patients with mitochondrial disorders
96. In This Issue
97. First tier molecular diagnosis of mitochondrial disorders — The experience of a mitochondrial diagnostic laboratory pre‐NextGen era
98. Implementation of next generation sequencing for clinical molecular diagnosis of mitochondrial disorders
99. Diagnosis of diseases associated with mitochondrial DNA biosynthesis and maintenance of integrity by next generation sequencing
100. The molecular etiology of Progressive External Ophthalmoplegia (PEO) associated with mitochondrial myopathy
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