Chromosome

Results: 1988



#Item
371Cytogenetics / Syndromes / Neurological disorders / Epigenetics / Rett syndrome / MECP2 / X-inactivation / X chromosome / Mutation / Biology / Genetics / Philosophy of biology

Archer H, Evans J, Leonard H, Colvin L, Ravine D, Christodoulou J, Williamson S, Charman T, Bailey ME, Sampson J, de Klerk N, Clarke A. Correlation between clinical severity in patients with Rett syndrome with a p.R168X

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Source URL: www.aussierett.org.au

Language: English - Date: 2011-09-30 03:33:06
372Cytogenetics / Syndromes / Neurological disorders / Epigenetics / Rett syndrome / MECP2 / X-inactivation / X chromosome / Mutation / Biology / Genetics / Philosophy of biology

Archer H, Evans J, Leonard H, Colvin L, Ravine D, Christodoulou J, Williamson S, Charman T, Bailey ME, Sampson J, de Klerk N, Clarke A. Correlation between clinical severity in patients with Rett syndrome with a p.R168X

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Source URL: www.interrett.org.au

Language: English - Date: 2011-09-30 03:33:06
373Oncogenes / Genodermatoses / Neurofibromin 1 / NF1 / Chromosome 17 / GTPase / Fibroblast / Mitochondrion / Ras subfamily / Biology / Medicine / Neurofibroma

Bioenergetic Characterization of a Neurofibromatosis Type-1 Cell Model Ionica Masgras, Giulia Guzzo, Federica Chiara*, Reuven Stein#, Paolo Bernardi and Andrea Rasola Department of Biomedical Sciences and CNR Institute o

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Source URL: www.seahorsebio.com

Language: English - Date: 2012-11-28 16:33:07
374Syndromes / Biology / Genomic imprinting / Angelman syndrome / Beckwith–Wiedemann syndrome / Silver–Russell syndrome / Prader–Willi syndrome / Uniparental disomy / Health / Genetics / Genodermatoses

Common nomenclature of ID names and major common molecular findings Chromosome Suggested Name

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Source URL: www.imprinting-disorders.eu

Language: English - Date: 2015-02-08 12:27:50
375Syndromes / Genodermatoses / Prader–Willi syndrome / Cytogenetics / Small nuclear RNA / Genomic imprinting / Small nucleolar RNA SNORD116 / Chromosome 15 / Uniparental disomy / Genetics / Health / Biology

SOCIETY FOR THE STUDY OF BEHAVIOURAL PHENOTYPES An International Organisation The SSBP is a Registered Charity: Charity No:Prader-Willi Syndrome (PWS)

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Source URL: www.qcidd.com.au

Language: English - Date: 2013-02-13 00:06:40
376Hypotonia / Chromosome / Williams syndrome / Developmental disorder / Health / Syndromes / Down syndrome

1 Talking Matters www.talkingmatters.com.au Ph: Helping your child to reach their potential

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Source URL: www.talkingmatters.com.au

Language: English - Date: 2012-04-04 20:13:46
377

Next Generation Technology for PGD for Genetic Disorders and 24-chromosome Aneuploidy Testing -Sponsored by Illumina 8:00-8:30 8:30-9:00 9:00-9:30 9:30-10:00

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Source URL: www.pgdis.org

- Date: 2015-03-12 18:55:02
    378Mitochondrial disease / Mitochondrion / Non-Mendelian inheritance / Mutation / Mitochondrial DNA / Human genome / Chromosome / Duchenne muscular dystrophy / Genetic testing / Biology / Genetics / Genetic disorder

    Facts About Genetics and Neuromuscular Diseases

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    Source URL: www.mda.org

    Language: English - Date: 2011-10-03 18:31:08
    379Biology / Neurological disorders / Syndromes / Fragile X syndrome / Mental retardation / Pediatrics / FMR1 / X chromosome / Sherman paradox / Genetics / Health / Autism

    THE FRAGILE X SOCIETY FRAGILE X SYNDROME: MALE CARRIERS OF FRAGILE X INTRODUCTION

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    Source URL: fragilex.org.au

    Language: English - Date: 2013-04-03 19:37:41
    380Neurological disorders / Cytogenetics / Syndromes / Genodermatoses / Angelman syndrome / Chromosome 15 / UBE3A / Harry Angelman / Aneuploidy / Genetics / Health / Biology

    Angelman Syndrome: an Information Guide for Day Services. Karyn Willoughby BSocSc MSc (Development Studies) For Oakleigh Centre

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    Source URL: www.cddh.monash.org

    Language: English - Date: 2014-05-12 02:27:17
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