472 results on '"Bole-Feysot, Christine"'
Search Results
102. AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability
103. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
104. Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis
105. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
106. Mutations in BOREALIN cause thyroid dysgenesis
107. Recurrent KIF2A mutations are responsible for classic lissencephaly
108. Contiguous mutation syndrome in the era of high-throughput sequencing
109. Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
110. Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy
111. DCDC2Mutations Cause Neonatal Sclerosing Cholangitis
112. ARID1Bmutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability
113. Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
114. MP032NEXT GENERATION GENE PANEL SCREENING IN STEROID-RESISTANT NEPHROTIC SYNDROME
115. Mutations inLTBP3cause acromicric dysplasia and geleophysic dysplasia
116. Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia
117. Refining the phenotype associated with CASC5 mutation
118. Du séquençage haut débit au phénotype : intérêt majeur de l’examen fœtopathologique dans l’exploration des anomalies du corps calleux
119. MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
120. Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer.
121. Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.
122. Mutations in PERPCause Dominant and Recessive Keratoderma
123. Germline HAVCR2mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome
124. Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ('FILS syndrome')
125. A human immunodeficiency caused by mutations in the PIK3R1 gene
126. Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia
127. Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria
128. Complete Genome Sequence of Mumps Virus Genotype G from a Vaccinated Child in Franceville, Southeastern Gabon, in 2013
129. Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing
130. Resequencing Microarray Technology for Genotyping Human Papillomavirus in Cervical Smears
131. A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS
132. ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
133. DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.
134. Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties
135. A NewTRPV3Missense Mutation in a Patient With Olmsted Syndrome and Erythromelalgia
136. XYLT1 Mutations in Desbuquois Dysplasia Type 2
137. Recessive loss of function PIGNalleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome
138. TTC7A mutations disrupt intestinal epithelial apicobasal polarity
139. Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase
140. Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears
141. Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
142. Adjunct therapy of n-3 fatty acids to 5-ASA ameliorates inflammatory score and decreases NF-κB in rats with TNBS-induced colitis
143. Cernunnos Deficiency Reduces Thymocyte Life Span and Alters the T Cell Repertoire in Mice and Humans
144. Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia
145. Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
146. Refining the phenotype associated with CASC5 mutation.
147. B cell depletion in immune thrombocytopenia reveals splenic long-lived plasma cells
148. Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)
149. Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly
150. Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome
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