484 results on '"Beales, Philip L."'
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102. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
103. Chapter 165 - Genes and Mechanisms in Human Ciliopathies
104. Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome
105. Non-essential role for cilia in coordinating precise alignment of lens fibres
106. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
107. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
108. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
109. Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
110. CD19+CD24hiCD38hi B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor 7 and Interferon-α.
111. Bardet Biedl Syndrome
112. Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay
113. The kinetochore protein,CENPF, is mutated in human ciliopathy and microcephaly phenotypes
114. Identification of 11 Novel Mutations in 8 BBS Genes by High-Resolution Homozygosity Mapping
115. Syndromes with obesity
116. Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents
117. EVALUATION OF VISUAL FUNCTION AND NEEDS IN ADULT PATIENTS WITH BARDET–BIEDL SYNDROME
118. Loss of FTO Antagonises Wnt Signaling and Leads to Developmental Defects Associated with Ciliopathies
119. Development of an Automated Imaging Pipeline for the Analysis of the Zebrafish Larval Kidney
120. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
121. Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters
122. Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome
123. Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
124. Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60
125. Exome sequencing identifiesDYNC2H1mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
126. Generation and validation of a zebrafish model of EAST (Epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome
127. Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
128. Heat shock induces rapid resorption of primary cilia
129. NovelKIF7mutations extend the phenotypic spectrum of acrocallosal syndrome
130. Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization
131. CILIA2012: Cilia in development and disease
132. Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet–Biedl syndrome
133. Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model
134. Bardet–Biedl syndrome
135. Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
136. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
137. Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
138. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
139. Arrayed primer extension technology simplifies mutation detection in Bardet–Biedl and Alström syndrome
140. Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals
141. Making sense of cilia in disease: The human ciliopathies
142. The nonmotile ciliopathies
143. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
144. How to Shape Cells and Influence Polarized Protein Trafficking
145. Erratum: Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
146. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
147. Bardet-Biedl Syndrome: An Atypical Phenotype in Brothers with a ProvenBBS1Mutation
148. Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response
149. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy
150. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
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