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Your search keyword '"Sigaudy Sabine"' showing total 144 results

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144 results on '"Sigaudy Sabine"'

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101. Prenatal findings in cardio-facio-cutaneous syndrome

102. BBS10 mutations are frequent in 'Meckel' type cystic kidneys

103. Mutations of the ImprintedCDKN1CGene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

104. Schimke immunoosseous dysplasia: defining skeletal features

105. Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

106. Schimke immunoosseous dysplasia: Suggestions of genetic diversity

107. Truncated prelamin A expression in HGPS-like patients: a transcriptional study

111. Phenotypic Spectrum of Simpson-Golabi-Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC 3 and Review of the Literature

112. SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.

113. Further delineation of the MECP2duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

114. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

115. Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

116. Bardet-Biedl Syndrome

117. Schimke immunoosseous dysplasia: defining skeletal features

119. Prenatal findings in cardio-facio-cutaneous syndrome.

120. Erratum: Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

121. Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

125. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

129. Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3and Review of the Literature

130. Macrocephaly-cutis marmorata telangiectatica congenita: Seven cases including two with unusual cerebral manifestations

131. Autosomal recessive primary microcephaly due to ASPM mutations: An update

132. Schimke immunoosseous dysplasia: defining skeletal features

134. Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

136. Real-World Safety and Effectiveness of Vosoritide in Children with Achondroplasia: French Early Access Program.

137. Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.

138. Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

139. Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.

140. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

141. Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

142. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

143. Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.

144. Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

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