320 results on '"Erdin, Serkan"'
Search Results
52. mTOR kinase inhibition disrupts neuregulin 1-ERBB3 autocrine signaling and sensitizes NF2-deficient meningioma cellular models to IGF1R inhibition
53. Data integration of bulk and single-cell transcriptomics from cerebral organoids and post-mortem brains to identify cell types and cell type specific driver genes in autism
54. New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders
55. Accounting for epistatic interactions improves the functional analysis of protein structures
56. Evolutionary Trace for Prediction and Redesign of Protein Functional Sites
57. ETAscape: analyzing protein networks to predict enzymatic function and substrates in Cytoscape
58. Identifying cell type specific driver genes in autism-associated copy number loci from cerebral organoids
59. De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features
60. Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice
61. Author response: Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice
62. De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features
63. Correlation between NF1 genotype and imaging phenotype on whole-body MRI
64. BiallelicGRM7variants cause epilepsy, microcephaly, and cerebral atrophy
65. CHD8 Suppression Impacts on Histone H3 Lysine 36 Trimethylation and Alters RNA Alternative Splicing
66. A deep learning approach to identify new gene targets of a novel therapeutic for human splicing disorders
67. Evolutionary Trace Annotation Server: automated enzyme function prediction in protein structures using 3D templates
68. Symmetry violation in a superconducting film with a square array of ferromagnetic dots
69. Brigatinib causes tumor shrinkage in both NF2-deficient meningioma and schwannoma through inhibition of multiple tyrosine kinases but not ALK.
70. NetWalker: a contextual network analysis tool for functional genomics
71. Hypomorphic mutation of the mouse Huntington’s disease gene orthologue
72. Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions
73. De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.
74. Prediction of enzyme function based on 3D templates of evolutionarily important amino acids
75. De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features.
76. Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
77. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
78. Correlation between NF1 genotype and imaging phenotype on whole-body MRI: NF1 radiogenomics.
79. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
80. CSIG-42. HIGH THROUGHPUT KINOME AND TRANSCRIPTOME ANALYSES REVEAL NOVEL THERAPEUTIC TARGETS IN NF2-DEFICIENT MENINGIOMA
81. Hypomorphic mutation of the mouse Huntington’s disease gene orthologue
82. LZTR1 mutations associated with greater pain among patients with schwannomatosis (P6.142)
83. De novo variants in SIAH1,encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features
84. Correction: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
85. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
86. WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4
87. Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions.
88. NIMG-64. NOVEL METHODS FOR GENOTYPE-PHENOTYPE CORRELATION IN SCHWANNOMATOSIS
89. Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
90. Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR
91. A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB
92. CHD8 Regulates Neurodevelopmental Pathways Associated with Autism Spectrum Disorder in Neural Progenitors
93. A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB
94. Traditional and systems biology based drug discovery for the rare tumor syndrome neurofibromatosis type 2.
95. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
96. WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4.
97. Heterogeneous Magnetic Superconducting Systems
98. Low Incidence of Off-Target Mutations in Individual CRISPR-Cas9 and TALEN Targeted Human Stem Cell Clones Detected by Whole-Genome Sequencing
99. Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families
100. Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function
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