472 results on '"Goodship, Judith"'
Search Results
102. Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot
103. Determining the Population Frequency of the CFHR3/CFHR1 Deletion at 1q32
104. Inversin/Nephrocystin-2 Is Required for Fibroblast Polarity and Directional Cell Migration
105. Nephronophthisis
106. Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia
107. De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome
108. The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia
109. A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot
110. Nonsynonymous variants in theSMAD6gene predispose to congenital cardiovascular malformation
111. Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
112. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
113. Abstract 17905: Aetiological Role of Folate Deficiency in Congenital Cardiovascular Malformation: Evidence From “Mendelian Randomisation” and Meta-Analysis
114. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
115. Primary, Nonsyndromic Vesicoureteric Reflux and Nephropathy in Sibling Pairs
116. Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus
117. Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis
118. Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly
119. Whole-Genome Linkage and Association Scan in Primary, Nonsyndromic Vesicoureteric Reflux
120. Medical genetics: advances in brief: X-linked borderline mental retardation with prominent behavioural disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism
121. Medical genetics: advances in brief: Rubinstein-Taybi syndrome caused by submicroscopic deletions with 16p13.3
122. Medical genetics: advances in brief: Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COLIA2 locus
123. Medical genetics: advances in brief: Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism
124. Medical genetics: advances in brief: A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening
125. Widening the mutation spectrum ofEVCandEVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling
126. Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands
127. 16-P003 Evc and Evc2 are interacting cilia transmembrane proteins that modulate Ihh signalling
128. Genetic Variation in VEGF Does Not Contribute Significantly to the Risk of Congenital Cardiovascular Malformation
129. Medical genetics: advances in brief
130. Medical genetics: advances in brief: Recombination of 4p16 DNA markers in an unusual family with Huntington disease
131. Medical genetics: advances in brief: Familial case with sequence variant in the testis-determining region associated with two sex phenotypes
132. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
133. Medical genetics: advances in brief: Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion
134. A Novel Non-Synonymous Polymorphism (p.Arg240His) in C4b-Binding Protein Is Associated with Atypical Hemolytic Uremic Syndrome and Leads to Impaired Alternative Pathway Cofactor Activity
135. Medical genetics: advances in brief: Girls with fragile X syndrome: physical and neurocognitive status and outcome
136. Long interspersed nuclear element-1 (LINE1)-mediated deletion ofEVC,EVC2,C4orf6, andSTK32B in Ellis–van Creveld syndrome with borderline intelligence
137. Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency and affect recognition functions
138. Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome
139. Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia
140. Deletion of Complement Factor H–Related Genes CFHR1 and CFHR3 Is Associated with Atypical Hemolytic Uremic Syndrome
141. Atypical Haemolytic Uraemic Syndrome Associated with a Hybrid Complement Gene
142. Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis–van Creveld syndrome patients
143. Molecular and Clinical Evaluation of Atypical Hemolytic Uremic Syndrome
144. Correction
145. Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation
146. Mutations in Complement Factor I Predispose to Development of Atypical Hemolytic Uremic Syndrome
147. Mutational analysis of the PITX2coding region revealed no common cause for transposition of the great arteries (dTGA)
148. Deletion of Complement Factor H Related Genes CFHR1 and CFHR3 is Associated with an Increased Risk of Atypical Hemolytic Uremic Syndrome
149. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
150. Ellis-van Creveld Syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p
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