about
European population substructure: clustering of northern and southern populationsLow levels of genetic divergence across geographically and linguistically diverse populations from IndiaSNP genotyping to screen for a common deletion in CHARGE syndromeAnalysis of East Asia genetic substructure using genome-wide SNP arraysCharacterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.Genome-wide detection and characterization of positive selection in human populationsCCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogsCharacterization of the interactions of human ZIC3 mutants with GLI3Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assaySHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencingCumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephalyRecurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalitiesA second generation human haplotype map of over 3.1 million SNPsCongenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis.Positive selection of a pre-expansion CAG repeat of the human SCA2 gene.Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathyPrenatal diagnosis and treatment of holocarboxylase synthetase deficiencyHeart defects in X-linked heterotaxy: evidence for a genetic interaction of Zic3 with the nodal signaling pathwayThe futility of genomic counseling: essential role of electronic health recordsRecurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head sizePrior infections with seasonal influenza A/H1N1 virus reduced the illness severity and epidemic intensity of pandemic H1N1 influenza in healthy adults.Antibody correlates and predictors of immunity to naturally occurring influenza in humans and the importance of antibody to the neuraminidase.Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions.NPHP4 variants are associated with pleiotropic heart malformations.Identification and cloning of differentially expressed genes by long-distance differential display.An ancestry informative marker set for determining continental origin: validation and extension using human genome diversity panelsAssessing the utility of whole-genome amplified serum DNA for array-based high throughput genotyping.The molecular basis of vascular disordersBCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects."Personalizing" academic medicine: opportunities and challenges in implementing genomic profilingRecurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.Long-distance DD-PCR and cDNA microarrays.Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).Molecular determinants of left and right outflow tract obstruction.Omphalocele in trisomy 3q: further delineation of phenotype.Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci.Epidemiology of noncomplex left ventricular outflow tract obstruction malformations (aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome) in Texas, 1999-2001Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections
P50
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description
hulumtues
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researcher
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ricercatore
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wetenschapper
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հետազոտող
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name
John Belmont
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John W Belmont
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John W Belmont
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John W. Belmont
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John W. Belmont
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type
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John Belmont
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John W Belmont
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John W Belmont
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John W. Belmont
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John W. Belmont
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John Belmont
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John Belmont
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John W Belmont
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John W Belmont
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John W. Belmont
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John W. Belmont
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