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ABSTRACTS - CCMG MG[removed]Clinical Genetics MG[removed]Clinical Genetics Facial Dysmorphism, Skeletal Abnormalities and
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Document Date: 2014-11-01 15:50:43

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City

Madrid / Montréal / Winnipeg / Montreal / Ottawa / Québec / Vancouver / Toronto / Laval / Dublin / Valencia / Cambridge / Burnaby / /

Company

Life Technologies / 2MRC Laboratory / Agilent / Wyeth / Advanced Diagnostics / /

Country

Canada / United Kingdom / China / Bangladesh / United States / Spain / /

Facility

University of British Columbia / Family Research Institute / University of Ottawa / Western University / University of Manitoba / Mount Sinai Hospital / University of Illinois / University of Hong Kong / CCMG Hospital / Children’s Hospital of Eastern Ontario / Children's Hospital of Eastern Ontario Research Institute / The Ontario Power Generation Building / University of Washington / 2University Genetic Center / Simon Fraser University / Chapel Hill Background / Children's Hospital of Eastern / Children's Hospital / Research Institute / The Hospital / Women’s Health Centre of British Columbia / Laboratory of Molecular Biology / University Drive / Montreal Heart Institute / Women’s Hospital / Laboratory Medicine / University of Toronto / /

IndustryTerm

cardiovascular imaging / maternal-specific product / splice site / functional protein product / rapid management / peripheral nervous systems / disability services / important tool / /

MedicalCondition

microcephaly / hypospadias / hydrocephalus / seizures / myelodysplastic syndrome / miscarriage CNVs / B-cell deficiency / EhlersDanlos syndrome / miscarriages / recurrent miscarriages / recognizable syndrome / syndrome's / childhood warts / abdominal pain / karyotypically normal miscarriages / myotonia / severe neonatal respiratory distress / autosomal dominant inherited disorder / cardiomyopathy / respiratory failure / umbilical hernia / autosomal-recessive syndrome / mild sensorineural hearing loss / complex diseases / undescended testes / neutropenia / WHIM syndrome / idiopathic miscarriages / presumed isolated aortic disease / cardiomyopathies / genetic syndrome / Kleefstra syndrome / Marfan syndrome / frequent infections / hypotonia / left-sided torticollis / copious diarrhea / e.g. long-QT syndrome / Emberger syndrome / disorders / Down syndrome / paramyotonia congenita / aortic disease / mild scoliosis / Features Of Nicolaides-Baraister Syndrome / Clinical Genetics Compound Heterozygous SCN4a Mutation Underlies Severe Congenital Hypotonia / severe congenital neuromuscular hypotonia / warts / vesicoureteral reflux / learning disability / Heterogeneous Diseases / Central Nervous System Abnormalities / Nicolaides-Baraister syndrome / Learning Disabilities Maha Saleh1 / mild myotonia / hypertelorism / mouth ulcers / overt hematological malignancies / Prader-Willi syndrome / readily treatable disorder / Idiopathic leg lymphedema / DYRK1A syndrome / miscarriage / speech delay / adult congenital heart disease / MS / congenital heart defects / severe fermentative diarrhea / lymphedema / periodic paralysis / Disease / cryptorchidism / Autism / unfamiliar clinical syndrome / Congenital Sucrase-Isomaltase Deficiency / myelogenous leukemia / hereditary cancer / moderate and mild intellectual deficiency / chronic diarrhea / severe congenital hypotonia / connective tissue disorders / rare hereditary cause / several disorders / pulmonary veins / biophysical dysfunction / /

MedicalTreatment

surgery / Heart Surgery / chemotherapy / /

NaturalFeature

SNRPN / /

Organization

Hospital for Sick Children / Centre for Addiction and Mental Health / Division of Clinical & Metabolic Genetics / Child and Family Research Institute / University of Ottawa / Children’s Hospital of Eastern Ontario / Eastern Ontario Research Institute / CCMG Hospital for Sick Children 6The Prenatal Diagnosis / Department of Paediatric Laboratory Medicine / University of Washington / Seattle / Children's Hospital / Mount Sinai Hospital / Department of Obstetrics and Gynecology / Centre of Reproduction / Growth & Development / Family Research Institute / Arthur S. Aylsworth2 1Greenwood 2University Genetic Center of North Carolina / Schulich School of Medicine and Dentistry / Montreal Heart Institute / Western University / London / University of Illinois / Chicago / Women’s Hospital / Department of Pediatrics / University of Manitoba / Centre Hospitalier Universitaire Ste / University of British Columbia / Vancouver / Centre for Applied Genomics / University of Hong Kong / Women’s Health Centre of British Columbia / Centre of Reproduction / Spain National Cancer Research Centre / University of Toronto / Simon Fraser University / Department of Paediatrics / CCMG 8National Centre for Medical Genetics / /

Person

Lauren Megan Ioana Patrick / Hilary Vallance / David Chitayat / Patrice Eydoux / Christian R. Marshall / X. Cynthia Ye / Katherine Selby / David Dixb / Barbara McGillivraya / Peter Ruben / Harinder Gill / Suzanne Lewis / Linhua Zhang / Colin J. Ross / Bryan Sayson / Chieko Chijiwa / Mena Abdelsayed / Hanna Faghfoury / Karen Y. Niederhoffera / Martha Balicki / Glenda Hendson / Kleefstra / D. James Stavropoulos / /

Position

Toronto General Research Institute University Health Network / genetic counselor / cardiologist / /

Product

Illumina HiSeq 2000 sequencing platform / Illumina HiSeq 2000 / /

ProvinceOrState

Quebec / British Columbia / Washington / Ontario / Illinois / Manitoba / North Carolina / /

PublishedMedium

Molecular Biology / /

Region

Eastern Ontario / /

Technology

DNA Chip / chemotherapy / genotype / Genomics / bioinformatics / Hybridization / ultrasound / transplantation / MRI / /

URL

http /

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