Güney Bademci

researcher

Güney Bademci is …
instance of (P31):
humanQ5

External links are
P3835Mendeley person IDguney-bademci
P496ORCID iD0000-0002-4052-8833
P1153Scopus author ID36155122500

P108employerUniversity of MiamiQ738258
Leonard M. Miller School of MedicineQ6525526
P734family nameBademchiQ98962688
BademchiQ98962688
BademchiQ98962688
P735given nameGüneyQ96245524
GüneyQ96245524
P106occupationresearcherQ1650915
P21sex or gendermaleQ6581097

Reverse relations

author (P50)
Q46520369A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia
Q33835353A Mayan founder mutation is a common cause of deafness in Guatemala
Q98197635A founder non-coding GALT variant interfering with splicing causes galactosemia
Q30729587A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes
Q57771870A novel mutation in the ARS (component B) gene encoding SLURP-1 in a Turkish family with mal de Meleda
Q89750482Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families
Q34399839Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria
Q28740628Comparison of three targeted enrichment strategies on the SOLiD sequencing platform
Q35839601Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss
Q27324049Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort
Q37703123Conventional and molecular cytogenetic analyses in Turkish patients with multiple myeloma.
Q37736167Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation.
Q30410274Evidence for genotype-phenotype correlation for OTOF mutations
Q53868211Exploring the relationship between the severity of oligozoospermia and the frequencies of sperm chromosome aneuploidies.
Q24299788FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.
Q35731309High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2
Q60048673Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability
Q30586706Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.
Q33833978Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach
Q50584895MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation
Q24316230Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia
Q41919782Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features
Q50345886Novel EYA1 variants causing Branchio-oto-renal syndrome
Q36108339Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
Q30412441Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations
Q36449240Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53
Q46298127Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort
Q30764277ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.
Q47135798Research of genetic bases of hereditary non-syndromic hearing loss.
Q40681828Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
Q42778032Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil
Q33353558Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease
Q47624048Variants in CIB2 cause DFNB48 and not USH1J.
Q36113695Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss
Q36841500Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease
Q33889479Whole-exome sequencing and its impact in hereditary hearing loss

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