584 results on '"Melegh, Béla"'
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152. DISEASE BURDEN OF DUCHENNE MUSCULAR DYSTROPHY PATIENTS AND THEIR CAREGIVERS
153. Genome Sequences of Three Turkey Orthoreovirus Strains Isolated in Hungary
154. Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs
155. De novo SCN1A géndeletio terápiarezisztens Dravet-szindrómában
156. IL28B CC genotípus: védő tényező és az interferonválasz prediktora krónikus hepatitis C-vírus-infekcióban
157. Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the <italic>IGF1R</italic> gene.
158. A 22-es csapdája? A 22q11 kromoszóma deletiós szindróma változatos klinikai megjelenése két eset kapcsán
159. Towards a European consensus for reporting incidental findings during clinical NGS testing
160. MARVELD2 (DFNB49) Mutations in the Hearing Impaired Central European Roma Population - Prevalence, Clinical Impact and the Common Origin
161. Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome
162. Genetic testing of hereditary spastic paraplegia
163. Large-scale whole genome sequencing identifies country-wide spread of an emerging G9P[8] rotavirus strain in Hungary, 2012
164. Strong intra- and inter-continental differentiation revealed by Y chromosome SNPs M269, U106 and U152
165. Genetic Variability and Haplotype Profile of MDR1 (ABCB1) in Roma and Hungarian Population Samples with a Review of the Literature
166. Functional variants of interleukin-23 receptor gene confer risk for rheumatoid arthritis but not for systemic sclerosis
167. Attention deficit hyperactivity disorder analyzed with array comparative genome hybridization method. Case report
168. Health related quality of life and disease burden of patients with cystic fibrosis and their caregivers: Results of the European BURQOL-RD survey in Hungary
169. Ritka genomikai betegségek azonosítása array komparatív genomhibridizációs módszerrel – elsőként Magyarországon
170. Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy
171. IL28B and IL10R −1087 polymorphisms are protective for chronic genotype 1 HCV infection and predictors of response to interferon-based therapy in an East-Central European cohort
172. Partial Trisomy of the Pericentromeric Region of Chromosome 5 in a Girl with Binder Phenotype
173. Reconstructing Roma History from Genome-Wide Data
174. Ancient human genomes suggest three ancestral populations for present-day Europeans
175. Zoonotic transmission of reassortant porcine G4P[6] rotaviruses in Hungarian pediatric patients identified sporadically over a 15year period
176. IL28B CC genotype: a protective factor and predictor of the response to interferon treatment in chronic hepatitis C virus infection
177. Erratum: Novel TSC1 mutation associated with variable phenotypes in tuberous sclerosis (DOI: 10.1556/OH.2013.29634)
178. Novel TSC1 mutation associated with variable phenotypes in tuberous sclerosis
179. Larsen-syndrome: final diagnosis following multiple surgical interventions
180. Acylcarnitine esters profiling of serum and follicular fluid in patients undergoing in vitro fertilization
181. Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity
182. Surveillance of human rotaviruses in 2007–2011, Hungary: Exploring the genetic relatedness between vaccine and field strains
183. C0078 Dose modifying effect of VKORC1 9041G>A and 6009C>T gene-polimorphisms in acenocoumarol anticoagulated hungarian outpatients
184. Jumping translocation of 15q24-qter resulting in partial trisomy: A case report
185. Molecular genetic diagnostics of Friedreich’s ataxia. Ten years’ experience based on analysis of blood samples
186. Evaluation of a Partial Genome Screening of Two Asthma Susceptibility Regions Using Bayesian Network Based Bayesian Multilevel Analysis of Relevance
187. Importance of thiopurine s-methyltransferase gene test
188. Increase in viral gastroenteritis outbreaks in Europe and epidemic spread of new norovirus variant
189. Unusual clinical manifestations of type 1 neurofibromatosis
190. Detection of mutations by flow cytometric melting point analysis of PCR products
191. Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings
192. Common functional variants of APOA5 and GCKR accumulate gradually in association with triglyceride increase in metabolic syndrome patients
193. Haplotype analysis of the apolipoprotein A5 gene in obese pediatric patients
194. Genetics of ischemic stroke: where are we now?
195. Cytokine (IL-10, IL-28B and LT-A) gene polymorphisms in chronic hepatitis C virus infection
196. Molecular genetic diagnosis of neurofibromatosis type I
197. Stepwise Positive Association Between APOA5 Minor Allele Frequencies and Increasing Plasma Triglyceride Quartiles in Random Patients with Hypertriglyceridemia of Unclarified Origin
198. Correction: Genetic Structure of Europeans: A View from the North–East
199. GCKR gene functional variants in type 2 diabetes and metabolic syndrome: do the rare variants associate with increased carotid intima-media thickness?
200. Functional Variants of Glucokinase Regulatory Protein and Apolipoprotein A5 Genes in Ischemic Stroke
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