about
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humansCLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationThe essential role of centrosomal NDE1 in human cerebral cortex neurogenesisMutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalitiesGenome-wide association study of intracranial aneurysm identifies three new risk lociSusceptibility loci for intracranial aneurysm in European and Japanese populationsBiallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary MicrocephalySomatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma PapilliferumThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesLoss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic EncephalopathyExome sequencing links corticospinal motor neuron disease to common neurodegenerative disordersBiallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.COL4A1 mutation in preterm intraventricular hemorrhage.L-histidine decarboxylase and Tourette's syndrome.Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegenerationNGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3.Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autismMissense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotionA novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.Spontaneous tumour regression in keratoacanthomas is driven by Wnt/retinoic acid signalling cross-talk.Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.AAV-mediated direct in vivo CRISPR screen identifies functional suppressors in glioblastoma.Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up.Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations.Therapeutic efficacy of SJA6017, a calpain inhibitor, in rat spinal cord injury.Therapeutic efficacy of Ac-DMQD-CHO, a caspase 3 inhibitor, for rat spinal cord injury.Neuroprotective effects of Ac.YVAD.cmk on experimental spinal cord injury in rats.Abstract 24: Two Locus Inheritance of Non-Syndromic Midline Craniosynostosis Via Rare SMAD6 and Common BMP2 Alleles.Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing.Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy.Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population.Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts.A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group.A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation.
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Kaya Bilguvar
@ast
Kaya Bilguvar
@en
Kaya Bilguvar
@es
Kaya Bilguvar
@nl
Kaya Bilguvar
@sl
type
label
Kaya Bilguvar
@ast
Kaya Bilguvar
@en
Kaya Bilguvar
@es
Kaya Bilguvar
@nl
Kaya Bilguvar
@sl
prefLabel
Kaya Bilguvar
@ast
Kaya Bilguvar
@en
Kaya Bilguvar
@es
Kaya Bilguvar
@nl
Kaya Bilguvar
@sl