986 results on '"Elpeleg, Orly"'
Search Results
52. OTULIN deficiency in ORAS causes cell type‐specific LUBAC degradation, dysregulated TNF signalling and cell death
53. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
54. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
55. Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure
56. Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation
57. Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
58. SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
59. Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene
60. Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy
61. Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder
62. Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
63. A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness
64. Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.
65. A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay
66. PARP10 deficiency manifests by severe developmental delay and DNA repair defect
67. Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy
68. Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization
69. Exome sequencing for structurally normal fetuses—yields and ethical issues
70. Mutations in SLC25A36 (PNC2) associated with the hyperinsulinism/hyperammonemia (HI/HA) syndrome
71. Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia
72. The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy
73. CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy
74. Disorders of Leucine Metabolism
75. A Novel Homozygous Missense Variant in the LRRC32 Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay
76. CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module
77. Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly
78. Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability
79. TBCK-related intellectual disability syndrome: Case study of two patients
80. A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration
81. Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency
82. Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene
83. Loss-of-function mutation in humanOxidation Resistance gene 1disrupts the spatial-temporal regulation of histone arginine methylation in early brain development
84. GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses
85. Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency
86. Cryptic Proteolytic Activity of Dihydrolipoamide Dehydrogenase
87. Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
88. A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System
89. Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1)
90. Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene
91. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
92. PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome
93. Study of anFBXO7patient mutation reveals Fbxo7 and PI31 co-regulate proteasomes and mitochondria
94. A human laterality disorder caused by a homozygous deleterious mutation in MMP21
95. Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients
96. Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination
97. The 3′ addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1
98. Further Insight Into the Phenotype Associated With a Mutation in the ORC6 Gene, Causing Meier–Gorlin Syndrome 3
99. Additional file 3 of Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
100. Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel disease
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