650 results on '"Devoto Marcella"'
Search Results
152. Heterozygous Deletion ofFOXA2Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia
153. 319 Analysis of Rare Variants Identified by Whole Exome Sequence in Veo-IBD Patients Under Autosomal Recessive Model of Transmission
154. Exome sequencing reveals compound heterozygous mutations inATP8B1in aJAG1/NOTCH2mutation-negative patient with clinically diagnosed Alagille syndrome
155. Advances in family-based association analysis. Introduction
156. Sa1801 - Using Functional Assays in Patient-Derived Enteroids to Understand Genotype-Phenotype Interactions in Very Early Onset Inflammatory Bowel Disease (VEO-IBD)
157. 1092 - Characterization of Disease Severity in Patients with Very Early-Onset Inflammatory Bowel Disease
158. Symposium on Advances in Genomics, Epidemiology and Statistics 2018.
159. Identification of a novel locus on chromosome 2q for autosomal dominant high myopia
160. Frequency of consanguineous marriages among parents and grandparents of Down patients
161. Common Genetic Variants in NEFL Influence Gene Expression and Neuroblastoma Risk
162. 95 Exome Sequencing Analysis of Candidate Genes in Very Early Onset IBD
163. Variants of DENND1B associated with asthma in children
164. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice
165. O-026 Exome Sequencing Analysis of Candidate Genes in Very Early Onset Inflammatory Bowel Disease
166. Developmental Dysplasia of the Hip: Linkage Mapping and Whole Exome Sequencing Identify a Shared Variant inCX3CR1in All Affected Members of a Large Multigeneration Family
167. Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia
168. Abstract 3811: Rare variants at 16p11.2 and within TP53 influence neuroblastoma susceptibility.
169. IQ and hemizygosity for the Val158Met functional polymorphism of COMT in 22q11DS.
170. Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.
171. A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients
172. Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility
173. Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma
174. Common Variation at BARD1 Results in the Expression of an Oncogenic Isoform That Influences Neuroblastoma Susceptibility and Oncogenicity
175. Abstract 4871: New neuroblastoma susceptibility loci at 6q21 within HACE1 and LIN28B
176. Replication of Neuroblastoma SNP Association at the BARD1 Locus in African-Americans
177. Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations
178. Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and At‐Risk for psychosis
179. Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder
180. Abstract A46: Genomic ancestry is associated with risk group and survival in children with neuroblastoma
181. Phenotype Restricted Genome-Wide Association Study Using a Gene-Centric Approach Identifies Three Low-Risk Neuroblastoma Susceptibility Loci
182. Genome-Wide Linkage Analysis to Identify Genetic Modifiers of ALK Mutation Penetrance in Familial Neuroblastoma
183. Analysis of GWAS top hits in ADHD suggests association to two polymorphisms located in genes expressed in the cerebellum
184. Abstract 3867: Understanding the neuroblastoma predisposition signal at chromosome 2q35: Identification of the β-BARD1 isoform as an oncogenic driver
185. The Otto Aufranc Award: Identification of a 4 Mb Region on Chromosome 17q21 Linked to Developmental Dysplasia of the Hip in One 18-member, Multigeneration Family
186. Variants ofDENND1BAssociated with Asthma in Children
187. Comparative analysis of different approaches for dealing with candidate regions in the context of a genome-wide association study
188. Nocturnal Enuresis: A Suggestive Endophenotype Marker for a Subgroup of Inattentive Attention-Deficit/Hyperactivity Disorder
189. Candidate gene analysis in an on-going genome-wide association study of attention-deficit hyperactivity disorder: suggestive association signals in ADRA1A
190. Copy number variation at 1q21.1 associated with neuroblastoma
191. Common variations in BARD1 influence susceptibility to high-risk neuroblastoma
192. Association of a Polymorphic Variant of the Adiponectin Gene with Insulin Resistance in African Americans
193. Genome-Wide Association Study for Hb F Determinants in Sardinian Patients with Thalassemia Major and Intermedia.
194. Identification of ALK as a major familial neuroblastoma predisposition gene
195. Chromosome 6p22 Locus Associated with Clinically Aggressive Neuroblastoma
196. Genetic loci linked to Type 1 Diabetes and Multiple Sclerosis families in Sardinia
197. Introduction
198. Incorporating prior biological information in linkage studies increases power and limits multiple testing
199. Estimates of Genetic and Environmental Contribution to 43 Quantitative Traits Support Sharing of a Homogeneous Environment in an Isolated Population from South Tyrol, Italy
200. ADHD genetics: 2007 update
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