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Health / Medical genetics / Mutation / Human genetics / Human genome / Genetic disorder / DECIPHER / Outline of genetics / Medicine / Biology / Genetics


Microsoft Word[removed]Book of Abstracts.doc
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Document Date: 2013-05-09 15:01:23


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City

Ottawa / Paris / Vancouver / Calgary / Hamburg / /

Company

Banff AB / Fluigent / Molecular Genetics Diagnostic Laboratory / /

Continent

North America / /

Country

Germany / France / United States / Canada / United Kingdom / /

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Facility

University of Calgary / North York General Hospital / Mount Sinai Hospital / Children's Hospital of Eastern Ontario / BC Children's Hospital / Memorial University Faculty / Adult Metabolic Disease Clinic / Vancouver General Hospital / Canadian College of Medical Geneticists BOOK OF ABSTRACTS / The Ontario Power Generation Building / Alberta Children's Hospital / University Avenue / TERMINAL DELETION DIAGNOSED IN A GIRL WITH MILD DYSMORPHIC FEATURES / BC Women's Hospital / Baylor College of Medicine / University of Toronto / TL Young Memorial University of Newfoundland / AB CANADIAN COLLEGE OF MEDICAL GENETICISTS / CANADIAN COLLEGE OF MEDICAL GENETICISTS / /

MedicalCondition

microcephaly / HMC syndrome / JE / Joubert syndrome / seizures / occipital encephalocele / severe mental retardation / congenital heart defect / mid‐hindbrain malformation syndrome / hypertelorism / cerebellar atrophy syndrome / right cleft lip / blepharophimosis / disorder / renal disease / Bardet‐Biedl syndrome / severe disease / Mabry syndrome / Facial Clefting Syndrome / Stargardt disease / MELAS / I deficiency / disease / well‐recognized distinctive disorder / tonic‐clonic seizures / hereditary eye diseases / Canada The 4q deletion syndrome / neurologic deficit / WITH SEIZURES / Leigh disease / ventricular septal defect / less severe disease / Polyhydramnios / OF MABRY SYNDROME / cleft palate / 4q deletion syndrome / autosomal recessive disorders / contractures / growth deficiency / metabolic bone disease / less severe mental retardation / spastic dystonia / SYNDROME / disorders / inherited breast cancer / /

MedicalTreatment

counseling / /

Organization

BC Women's Hospital / Alberta Children's Hospital / Human Investigation Committee of Memorial University Faculty of Medicine / Children's Hospital of Eastern Ontario / University of Toronto / Toronto / Memorial University of Newfoundland / 1The Hospital for Sick Children / BC Children's Hospital / CANADIAN COLLEGE OF MEDICAL GENETICISTS / Division of Clinical and Metabolic Genetics / Baylor College of Medicine / Houston / Vancouver General Hospital / JL Department of Medical Genetics / Canadian College / University of Calgary / Department of Obstetrics / North York General Hospital / Univ. of Toronto / Division of Plastic Surgery / Mount Sinai Hospital / Department of Obstetrics and Gynecology / /

Person

David E. C. Cole / Alberta Children / Jean McGowan‐Jordan / Kathy Chun / Judy Chernos / Marsha D. Speevak / Enfants Malades / D. Chitayat / Mary Anderson / Arnold Munnich / Michael Chan / /

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Position

Mutation Surveyor / technologist / Major / /

Product

triad / glycine / /

ProvinceOrState

Newfoundland / British Columbia / New Foundland and Labrador / Ontario / /

Region

Eastern Ontario / /

Technology

electrophoresis / DNA Chip / genotype / /

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