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Clinical phenotype of the recurrent 1q21.1 copy-number variant | Genetics in Medicine

Risk calculations for cystic fibrosis in neonatal screening by immunoreactive trypsinogen and CFTR mutation tests | Genetics in Medicine

Cystathionine β-synthase deficiency: Effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria | Genetics in ...

Figure 1

The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population | Genetics in ...

Privacy-preserving genomic testing in the clinic: a model using HIV treatment | Genetics in Medicine

A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental ...

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, ...

Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease | Genetics in Medicine

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing | Genetics in Medicine

CNC, copy number change; CNV, copy number variation (database of genomic variants http://projects.tcag.ca/variation/); ...

Figure 1

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature | Genetics in Medicine

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations | Genetics in Medicine

Figure 1

Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma | Genetics in Medicine

Figure 1

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections | Genetics in Medicine

Figure 2

A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive ...

Figure 1

Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome | Genetics in ...

The complex behavioral phenotype of 15q13.3 microdeletion syndrome | Genetics in Medicine

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis ...

Figure 2

Live births, natural losses, and elective terminations with Down syndrome in Massachusetts | Genetics in Medicine

The impact of chromosomal microarray on clinical management: a retrospective analysis | Genetics in Medicine

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes | Genetics in Medicine

Photo of Ghim Moh Market - Singapore, Singapore. 20 Ghim Moh Road Market &. Riza H. C.

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency ...

Health-related quality of life in Marfan syndrome: A cross-sectional study of Short Form 36 in 84 adults with a verified diagnosis | Genetics in Medicine

Using a gene expression signature when controversy exists regarding the indication for adjuvant systemic treatment reduces the proportion of patients ...

Endocrine aspects of the 22q11.2 deletion syndrome | Genetics in Medicine

Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies | Genetics in Medicine

Figure 1

CLIA-tested genetic variants on commercial SNP arrays: Potential for incidental findings in genome-wide association studies | Genetics in Medicine

Published by: The Public Health Agency of Canada Issue: Volume 40-19: Hepatitis C Date published: December 18, 2014. ISSN: 1481-8531

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Ghim Moh Market - 65 Photos & 13 Reviews - Specialty Food - 20 Ghim Moh Road, Ghim Moh, Singapore - Yelp

Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 ...

Aortic dilation, genetic testing, and associated diagnoses | Genetics in Medicine

Array CGH and FISH results from two representative cases used in this survey. A, Partial Chromosome 3 array plot (left panel), interphase FISH image (middle ...

Figure 1

An EF hand–containing calcium-binding gene (EFHC1) spans 72 kb, has 11 exons, three DM10 domains (DM refers to Drosophila melanogaster sequences), ...

Figure 2

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing | Genetics in Medicine

The GIM (black) and IRI (red) data for the height-adjusted

Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic ...

Figure 1

A novel computational algorithm PGCNARS (paralogous gene copy-number analysis by ratio and sum) for SMN1 copy-number analysis using next-generation ...

Effects on rate of incidental findings (IFs) over a range of variant frequencies and prevalence. For each of the 24 American College of Medical Genetics and ...

Figure 1

A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone | Genetics in Medicine

A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive ...

Photo of Ghim Moh Market - Singapore, Singapore. Long Long Line aka Long Queue

“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine ...

Figure 2

Cochlear expression patterns of GJB2 BM, basilar membrane; BSL, bony spiral lamina; CC, Claudius cell; DC, Deiters cell; ESC, external sulcus cell; HC, ...

Figure 2

... Download full-size image

gim200879f1.jpg

Example report returned to clinicians. Interpreted test results are shown for each trait. An alert specific to the test was returned when a significant test ...

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The insect and other allied pests of orchard, bush and hothouse fruits and their .

Figure 1

Figure 3

Dimensional assessment of participants. Relationship between overall cognitive ability, proband status, and age in the cohort showing that the proband ...

Figure 1

Cluster analysis and graphical display of genome-wide expression patterns (Jurkat T cells under gamma irradiation). (a) Hierarchical clustering creates ...

Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric ...

Somatic TP53 variants frequently confound germ-line testing results | Genetics in Medicine

Switch to agalsidase alfa after shortage of agalsidase beta in Fabry disease: a systematic review and meta-analysis of the literature | Genetics in Medicine

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Figure 2

Simulating Donnan equilibria based on the Nernst-Planck equation

Figure 2

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Figure 2

Comparison of V4+UTR whole-exome sequencing (WES) and genetic eye disease (GEDi) capture baits at the 5′ end of ABCC6. Read depth for the ABCC6 gene is ...

A UCSC genome browser representation of the 16p11.2 region (chr16:28,000,000–30,500,000) and array CGH data for a subset of patients.

Table 3 . Estimated concentrations and mass flow rates of flue gas impurities in separated CO

Characterization of neuronopathic Gaucher disease among ethnic Poles | Genetics in Medicine

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Estimated annual live birth prevalence for DS in MA during 1900–2010, and live birth prevalence if there were no DS-related elective terminations during ...

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Which Lynch syndrome screening programs could be implemented in the “real world”? A systematic review of economic evaluations | Genetics in Medicine

CADD score has limited clinical validity for the identification of pathogenic variants in noncoding regions in a hereditary cancer panel | Genetics in ...

Annual estimates of the total number of DS fetuses at 10 weeks gestational age in MA during 1974–2010 and estimated pregnancy outcomes of live births with ...

Figure 2

Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants | Genetics in Medicine

Figure 2

Figure 3

Clinical phenotype of the recurrent 1q21.1 copy-number variant | Genetics in Medicine

Cystathionine β-synthase deficiency: Effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria | Genetics in ...

Privacy-preserving genomic testing in the clinic: a model using HIV treatment | Genetics in Medicine

Figure 1

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature | Genetics in Medicine

A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental ...

The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population | Genetics in ...

Figure 1

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, ...

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing | Genetics in Medicine

Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations | Genetics in Medicine

Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease | Genetics in Medicine

Figure 1

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations | Genetics in Medicine

Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma | Genetics in Medicine

Figure 1

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections | Genetics in Medicine

A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive ...

Figure 1

Figure 1

Figure 2

The complex behavioral phenotype of 15q13.3 microdeletion syndrome | Genetics in Medicine

Figure 2

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis ...

Figure 1

Live births, natural losses, and elective terminations with Down syndrome in Massachusetts | Genetics in Medicine

The impact of chromosomal microarray on clinical management: a retrospective analysis | Genetics in Medicine

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes | Genetics in Medicine

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency ...

Health-related quality of life in Marfan syndrome: A cross-sectional study of Short Form 36 in 84 adults with a verified diagnosis | Genetics in Medicine

Using a gene expression signature when controversy exists regarding the indication for adjuvant systemic treatment reduces the proportion of patients ...

Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories | Genetics in Medicine

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Figure 1

Primary-care providers' perceived barriers to integration of genetics services: a systematic review of the literature | Genetics in Medicine

Figure 1

CLIA-tested genetic variants on commercial SNP arrays: Potential for incidental findings in genome-wide association studies | Genetics in Medicine

Ghim Moh Market - 65 Photos & 13 Reviews - Specialty Food - 20 Ghim Moh Road, Ghim Moh, Singapore - Yelp

Figure 1

Figure 1

Figure 1

Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 ...

Aortic dilation, genetic testing, and associated diagnoses | Genetics in Medicine

An EF hand–containing calcium-binding gene (EFHC1) spans 72 kb, has 11 exons, three DM10 domains (DM refers to Drosophila melanogaster sequences), ...

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing | Genetics in Medicine

The GIM (black) and IRI (red) data for the height-adjusted

Figure 1

Figure 2

Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic ...

Figure 1

Photo of Ghim Moh Market - Singapore, Singapore. Long Long Line aka Long Queue

A novel computational algorithm PGCNARS (paralogous gene copy-number analysis by ratio and sum) for SMN1 copy-number analysis using next-generation ...

Effects on rate of incidental findings (IFs) over a range of variant frequencies and prevalence. For each of the 24 American College of Medical Genetics and ...

Figure 1

A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone | Genetics in Medicine

Cochlear expression patterns of GJB2 BM, basilar membrane; BSL, bony spiral lamina; CC, Claudius cell; DC, Deiters cell; ESC, external sulcus cell; HC, ...

Figure 2

Dietary regimen comparison.

Figure 2

“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine ...

Figure 2

A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive ...

CNV detection in a validation group and a multicenter clinical group. (a) The distribution of CNVs (including trisomy 18 detected in sample 12DNJ067) by CMA ...

... Download full-size image

Figure 1

gim200879f1.jpg

Example report returned to clinicians. Interpreted test results are shown for each trait. An alert specific to the test was returned when a significant test ...

Figure 3

Figure 2

Figure 1

Figure 2

A, Partial GTG-banded karyotype of patient AA, showing the normal chromosomes 8 and 10, and the derivative chromosomes 8 and 10.

Figure 3

Figure 1

Dimensional assessment of participants. Relationship between overall cognitive ability, proband status, and age in the cohort showing that the proband ...

Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric ...

Figure 3

Figure 2

Somatic TP53 variants frequently confound germ-line testing results | Genetics in Medicine

Switch to agalsidase alfa after shortage of agalsidase beta in Fabry disease: a systematic review and meta-analysis of the literature | Genetics in Medicine

Figure 3

Figure 3

Simulating Donnan equilibria based on the Nernst-Planck equation

Figure 2

Comparison of V4+UTR whole-exome sequencing (WES) and genetic eye disease (GEDi) capture baits at the 5′ end of ABCC6. Read depth for the ABCC6 gene is ...

Table 3 . Estimated concentrations and mass flow rates of flue gas impurities in separated CO

Figure 2

A UCSC genome browser representation of the 16p11.2 region (chr16:28,000,000–30,500,000) and array CGH data for a subset of patients.

Figure 2

Array comparative genomic hybridization (CGH) and breakpoint junction studies of the KIF24 gene deletion in BAB1415. (a) Chromosome 9 ideogram with G bands ...

Estimated annual live birth prevalence for DS in MA during 1900–2010, and live birth prevalence if there were no DS-related elective terminations during ...

Figure 2

The insect and other allied pests of orchard, bush and hothouse fruits and their .

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Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray | Genetics in Medicine

Which Lynch syndrome screening programs could be implemented in the “real world”? A systematic review of economic evaluations | Genetics in Medicine

CADD score has limited clinical validity for the identification of pathogenic variants in noncoding regions in a hereditary cancer panel | Genetics in ...

Photo of Ghim Moh Market - Singapore, Singapore. 20 Ghim Moh Road Market &. Riza H. C.