Back to Results
First PageMeta Content
RAI1 / Potocki-Lupski syndrome / Prader–Willi syndrome / Haploinsufficiency / Chromosome 17 / DiGeorge syndrome / Williams syndrome / TNFRSF13B / Joubert syndrome / Health / Syndromes / Smith–Magenis syndrome


European Journal of Human Genetics[removed], 412–421 & 2008 Nature Publishing Group All rights reserved[removed] $30.00
Add to Reading List

Document Date: 2010-01-19 10:40:20


Open Document

File Size: 245,68 KB

Share Result on Facebook

City

Paris / Toronto / Richmond / /

Company

Schlesinger AE / IgG / USA European Journal / GenBank / HP / /

Continent

Europe / /

Country

United States / /

Currency

USD / /

/

Facility

Virginia Commonwealth University / terminal PHD / Sanger Hall / Medical College of Virginia Campus / /

/

IndustryTerm

throughput technologies / sequential processing / Online Mendelian Inheritance / molecular diagnostic tools / real-time qPCR / functional brain imaging evidence / respite services / acute otitis media / brain imaging / timely management / transcriptional machinery / /

MedicalCondition

myopia / Larsson syndrome / JE / hypocalcemia / syndactyly / Ocular abnormalities Myopia Strabismus / contiguousgene syndrome / seizures / Smith-Magenis syndrome / mitral stenosis / mutation Mutation No mutation Whole genome aCGH SMS-like disorder / retinal detachment / mitral regurgitation / acute otitis media / associated systemic disorder / dentatorubral-pallidoluysian atrophy / iris hamartomas / gastroesophageal reflux / total anomalous pulmonary venous return / sporadic disorder / mitral valve prolapse / subclinical seizures / palsies / polyneuropathy / deletion syndrome / syndrome ATP synthase deficiency / stereotypic movements Mental retardation / immune deficiency / disorder / prognathism / frequent ear infections / Williams syndrome / birth defects / congenital anomalies/mental retardation disorder / scoliosis / truncal obesity / hypercalcemia / prenatal growth retardation / common contiguous gene deletion syndrome / mental retardation / Hereditary / schizophrenia / pes cavus / autosomal dominant disorders / aortic stenosis / Infantile hypotonia / thyroxine deficiency / cardiac and endocrine problems Mental retardation / renal carcinoma / ventricular septal defect / hereditary neuropathy / moderately severe hearing loss / pulmonary stenosis / supravalvular aortic stenosis / Cardiovascular abnormalities Renal/urinary / joint pains / pes planus / moyamoya disease / associated disorders / Hypotonia / infection / self-injurious and obsessive-compulsive behaviors Congenital heart disease / relative prognathism / atrial septal defect / Willi syndrome / hypercholesterolemia / disorders / Down syndrome / Sotos syndrome / carpal tunnel syndrome / velopharyngeal insufficiency / Gene(s) 9q34 deletion syndrome / eye abnormalities / generalized lethargy / palsy / hypotonia / cardiac anomalies / obstructive sleep apnea / EHMT1 Down syndrome / early morning awakenings Infantile hypotonia / severe mental retardation / mild mental retardation / 9q34 deletion syndrome / hypertelorism / typically experienced hypersomnolence / Peripheral neuropathy / Dube syndrome / body rocking / complex disorder / chests and truncal obesity / obsessivecompulsive disorders / Obesity / Self-injurious behaviors Onychotillomania Polyembolokoilamania Head banging / cleft lip / circadian disorder / hearing loss / complex neurobehavioral disorder / malar flushing / hypercholesterolemia / immunological problems / chronic ear infections / square face Synophrys Cleft lip/palate Brachydactyly Short stature Scoliosis / hypoplasia Prognathism / catamenial seizures / congenital heart defects / Idiopathic scoliosis / hypotonia / short stature / nervous system disorders / skeletal abnormalities Mental retardation / Tooth disease type / profound deafness / Magenis syndrome / peroneal palsy / contiguous gene deletion syndrome / mental retardation Speech delay Motor delay Hypotonia Seizures / significant speech delay / friendly / loquacious personality Mental retardation / Tooth disease / head banging / polydactyly / strabismus / oral sensory motor dysfunction / tetralogy of Fallot / primary spontaneous pneumothorax / syndrome / upper respiratory tract infections / variable mental retardation / /

MedicalTreatment

speech therapy / Polypharmacy / Behavioral therapies / /

Organization

Medical College of Virginia Campus / ELN / National Institute of Health / American Society of Human Genetics / PRACTICAL GENETICS In association / Virginia Commonwealth University / Department of Pediatrics / Genomic / /

Person

Gene Charcot / Arti Pandya / Sarah H Elsea / Helga Toriello / /

/

Position

representative / seeking Self-injurious behaviors Onychotillomania Polyembolokoilamania Head / /

Product

fluoxetine / carbamazepine / /

ProvinceOrState

Virginia / /

PublishedMedium

European Journal of Human Genetics / /

Technology

high-throughput technologies / DNA Chip / Genotype / recombination / Genomics / SMS / hybridization / 1 An algorithm / ultrasound / cloning / gene analysis / MRI / SNP / /

URL

http /

SocialTag