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ENG, CHRISTINE

One or more keywords matched the following items that are connected to ENG, CHRISTINE

Item Type	Name
Academic Article	Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives.
Academic Article	Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.
Academic Article	Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis.
Academic Article	Chromosomal microarray versus karyotyping for prenatal diagnosis.
Academic Article	Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis.
Academic Article	Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.
Academic Article	Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).
Academic Article	Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.
Concept	Prenatal Diagnosis
Concept	Diagnosis, Differential
Concept	Diagnosis
Academic Article	Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Academic Article	Genetic diagnosis through whole-exome sequencing.
Academic Article	Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.
Academic Article	Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice.
Academic Article	A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.
Academic Article	Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.
Academic Article	Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Academic Article	Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Academic Article	Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
Grant	Clinical Sequencing Core Facility for the Undiagnosed Diseases Network (UDN)
Academic Article	Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
Academic Article	Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.

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Diagnosis