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151. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

152. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

153. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

154. Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients

155. Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

156. The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs

157. Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

158. Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

159. NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients

160. Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

161. Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

163. Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

164. Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

165. De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

166. Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome

167. Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations

168. Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions

169. Loss-of-function variants inCUL3cause a syndromic neurodevelopmental disorder

170. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

171. Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

172. Spectre clinique et mutationnel des malformations vasculaires cutanées hypertrophiques associées aux variants de PIK3R1

173. Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder

174. Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

176. Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

177. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

178. POU3F3-related disorder:Defining the phenotype and expanding the molecular spectrum

179. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

180. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

181. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

182. POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum

183. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

184. Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

185. Growth charts in DYRK1A syndrome.

186. Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

187. POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum

188. Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

189. Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age

190. Lessons from two series by physicians and caregivers’ self-reported data, and DNA methylation profile in DDX3X-Related Disorders

191. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

192. Data from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

193. Supplementary Methods, Tables 1-3, Figure 1 from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

195. Rare variants inPPFIA3cause delayed development, intellectual disability, autism, and epilepsy

196. Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

197. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

199. Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

200. HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

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