Medical genetics

Results: 3808



#Item
341Channelopathy / Seizure types / Epilepsy / Generalised epilepsy / Benign familial neonatal epilepsy / Generalized epilepsy with febrile seizures plus / Medical genetics / Juvenile myoclonic epilepsy / Autosomal dominant nocturnal frontal lobe epilepsy / Brain / Central nervous system / Medicine

Genetics of Epilepsy – a clinical research project Dag Undlien Dep. of Medical Genetics Oslo University Hospital Department and Institute of Medical Genetics

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Source URL: www.eurecnet.org

Language: English - Date: 2012-12-10 08:31:43
342Abnormal psychology / Neurological disorders / Syndromes / Medical genetics / Pervasive developmental disorders / Heritability of autism / FMR1 / Fragile X syndrome / Metabotropic glutamate receptor / Health / Autism / Medicine

SFARI_final_logo_working_files

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Source URL: simonsfoundation.s3.amazonaws.com

Language: English - Date: 2015-03-09 15:12:33
343Biology / Gene patent / Biological patent / Living modified organism / Diamond v. Chakrabarty / Composition of matter / Myriad Genetics / Patentable subject matter / Utility / Patent law / Law / Civil law

No. 12–398 IN THE Supreme Court of the United States THE ASSOCIATION FOR MOLECULAR PATHOLOGY, THE AMERICAN COLLEGE OF MEDICAL GENETICS, THE AMERICAN SOCIETY FOR CLINICAL PATHOLOGY, THE COLLEGE OF AMERICAN PATHOLOGISTS,

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Source URL: sblog.s3.amazonaws.com

Language: English - Date: 2012-11-20 14:19:53
344Newborn screening / Pediatrics / Standards organizations / Tyrosinemia / Type I tyrosinemia / Medical genetics / National Institute of Standards and Technology / Tyrosine / Medicine / Health / Epidemiology

Molecular Genetics and Metabolism–75 Contents lists available at ScienceDirect Molecular Genetics and Metabolism journal homepage: www.elsevier.com/locate/ymgme

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Source URL: www.hrsa.gov

Language: English
345Biology / Autism / Syndromes / Pervasive developmental disorders / Communication disorders / Rett syndrome / MECP2 / CDKL5 / Medical genetics / Health / Medicine / Neurological disorders

MECP2 duplication research MECP2 duplication syndrome is a rare neurodevelopmental disorder that, unlike Rett syndrome, mostly affects boys. Australian families with children with MECP2 duplication syndrome are raising

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Source URL: www.aussierett.org.au

Language: English - Date: 2013-06-10 00:20:50
346Microarrays / Genetic mapping / Molecular biology / Copy-number variation / Medical genetics / Genome / Chromosome / DNA microarray / Human genome / Biology / Genetics / Genomics

MICROARRAY Factsheet Key points Microarray is a powerful way to look for genetic causes of health and developmental problems. As microarray is new, health professionals are still learning how to interpret the large amoun

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Source URL: www.gsnv.org.au

Language: English - Date: 2013-11-11 21:00:19
347Prenatal diagnosis / Genetic testing / Pregnancy / Genetic counseling / Medicine / Medical genetics / Health

CASE STUDY Confident analysis of microarray data in prenatal testing Authors: Steven Van Vooren1, Joris Vermeesch2, Dominic McMullan3 1. Cartagenia, Inc., 485 Massachusetts Avenue, Suite 300, Cambridge, MA 02139, USA

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Source URL: www.cartagenia.com

Language: English - Date: 2015-04-02 08:14:41
348Biology / Fertility medicine / Syndromes / Eugenics / Pregnancy / Genetic testing / Preimplantation genetic diagnosis / Prenatal diagnosis / Genetic disorder / Medicine / Health / Medical genetics

About the GSNV The Genetic Support Network Victoria (GSNV) is a vibrant and active organisation which aims to maintain a network committed to promoting the interests and well-being of people affected by genetic condition

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Source URL: www.gsnv.org.au

Language: English - Date: 2013-12-03 17:54:05
349Pregnancy tests / Breast cancer / Medical genetics / Hereditary nonpolyposis colorectal cancer / Ovarian cancer / Genetic testing / Prenatal diagnosis / Cancer / HFE hereditary haemochromatosis / Medicine / Gastrointestinal cancer / Medical tests

Genetics in Family Medicine Genetics at a glance Further detailed information and fact sheets are available in the resource, Genetics in Family Medicine: The Australian Handbook for General Practitioners www.gpgenetics.

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Source URL: www.nhmrc.gov.au

Language: English - Date: 2009-12-16 01:13:52
350Genetics / CRISPR / Non-coding RNA / Genetic engineering / Genetically modified organisms / Gene targeting / Biology / Bioengineering / Molecular biology

Double-nicking CRISPR/Cas9: precise modification of the mouse genome with greatly reduced off-target effects David Zahra1, Kevin Taylor2, Jana Hermes1, Jenny Kingham2 and Robert Brink1,3 1Garvan Institute of Medical Res

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Source URL: www.towardsprecisionmedicine-symposium2014.org.au

Language: English - Date: 2014-09-23 20:24:49
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