515 results on '"Petersen, Michael B."'
Search Results
152. Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro
153. Hellenic National Mutation Database: a prototype database for mutations leading to inherited disorders in the Hellenic population
154. Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases
155. Prenatal Diagnosis of Trisomy 2 Mosaicism: A Case Report
156. DNA studies of mono- and pseudodicentric isochromosomes 18q
157. Non-disjunction of chromosome 18
158. Analysis of the Origin of the Extra Chromosome in Trisomy 8 in 4 Cases of Spontaneous Abortions
159. Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism
160. A novel class of oligonucleotide analogues containing 2'-O,3'-C-linked [3.2.0]bicycloarabinonucleoside monomers: Synthesis, thermal affinity studies, and molecular modeling
161. Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination
162. Double supernumerary isodicentric chromosomes derived from 15 resulting in partial hexasomy
163. A large family with subtelomeric translocation t(18;21) (q23;q22.1) and molecular breakpoint in the Down syndrome region
164. A patient with Edward syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin
165. Meiotic Nondisjunction—The Major Cause of Trisomy 21.
166. Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis
167. Prevalence of GJB2 mutations in prelingual deafness in the Greek population
168. Tetrasomy 18p de novo: Parental Origin and Different Mechanisms of Formation
169. The 100 men who would not die
170. Detection of mutations in theCOL4A5gene by SSCP in X-linked Alport syndrome
171. Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree
172. Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation
173. Prenatal diagnosis of two rarede novo structural aberrations of the Y chromosome: cytogenetic and molecular analysis
174. Patterns of Meiotic Recombination on the Long Arm of Human Chromosome 21
175. Molecular cytogenetic characterization and origin of two de novo duplication 9p cases
176. Association between presenilin-1 polymorphism and maternal meiosis II errors in Down syndrome
177. BRCA1 mutation analysis in breast/ovarian cancer families from Greece
178. Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome
179. Apolipoprotein E 4 Allele as a Genetic Risk Factor for Left Ventricular Failure in Homozygous β-Thalassemia
180. Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism
181. Analysis of the Origin of the Extra Chromosome in Trisomy 8 in 4 Cases of Spontaneous Abortions
182. FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population
183. Novel 4-bp insertion in exon 5 of the CuZn-superoxide dismutase (SOD1) gene associated with familial amyotrophic lateral sclerosis
184. Compensation-linked training: implementing the obvious
185. Susceptible chiasmate configurations of chromosome 21 predispose to non–disjunction in both maternal meiosis I and meiosis II
186. Tetrasomy 18p de novo: Parental Origin and Different Mechanisms of Formation
187. Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish county
188. Monozygotic twins discordant for gastroschisis: Case report and review of the literature of twins and familial occurrence of gastroschisis
189. Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination
190. Biomarkers in primary open angle glaucoma.
191. Report of the fourth international workshop on human chromosome 21
192. Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q– syndrome and a ring chromosome 21
193. A Linkage Map of Human Chromosome 21: 43 PCR Markers at Average Intervals of 2.5 cM
194. Dinucleotide repeat (GT) markers on chromosome 21
195. D21S215 is a (GT) polymorphic marker close to centromeric alphoid sequences on chromosome 21
196. Uniparental isodisomy due to duplication of chromosome 21 occuring in somatic cells monosomic for chromosome 21
197. Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes.
198. Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation.
199. Age-related macular degeneration: genetic and clinical findings.
200. Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection.
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