Thomas Jefferson University

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Lin, Angel
One or more keywords matched the following items that are connected to Lin, Angel
Item TypeName
Concept Chromosome Aberrations
Concept Chromosome Banding
Concept Chromosome Deletion
Concept Chromosome Mapping
Concept Chromosomes, Human, Pair 2
Concept Chromosomes, Human, Pair 22
Concept Chromosomes, Human, Pair 4
Concept Chromosomes, Human, Pair 6
Concept Chromosomes, Human, Pair 8
Concept Chromosome Disorders
Concept Sex Chromosome Disorders
Academic Article TFAP2A mutations result in branchio-oculo-facial syndrome.
Academic Article 47,XXX associated with malformations.
Academic Article Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program.
Academic Article Further delineation of Kabuki syndrome in 48 well-defined new individuals.
Academic Article Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.
Academic Article Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.
Academic Article Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations.
Academic Article Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies.
Academic Article Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
Academic Article Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Academic Article Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia.
Academic Article Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.
Academic Article Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.
Academic Article Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the dHAND gene.
Search Criteria
  • Chromosomes Human Pair 8