Results 61 to 70 of about 754,623 (244)

NEW GENETICS, NEW IDENTITIES

, 2007
List of contributors -- Acknowledgements -- 1. Introduction: new genetic identities? / Paul Atkinson and Peter Glasner -- 2. Genetic advocacy groups, science and biovalue: creating political economies of hope / Carlos Novas -- 3.

core  

Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG) [PDF]

, 2023
Joshua L. Deignan, Mauricio De Castro, Vanessa L. Horner, Tami Johnston, Daniela Macaya, Joseph J. Maleszewski, Honey V. Reddi, Marwan K. Tayeh   +7 more
openalex   +1 more source

Statement of the American College of Medical Genetics on Universal Newborn Hearing Screening

, 2000
policy ...
American College of Medical Genetics
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Intramuscular Vitamin B12 Treatment in Transcobalamin II Deficiency: Case Series Clinical Outcomes

The Application of Clinical Genetics
Ali M Sawlan,1 Msaed Alotaibi,1 Rayan M Alharbi,1 Nimr A Alwahbi,1 Manar Alshammary,2 Ali Mohammad Alasmari,2 Fuad Al Mutairi3,4 1College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNG ...
Sawlan AM, Alotaibi M, Alharbi RM, Alwahbi NA, Alshammary M, Alasmari AM, Al Mutairi F   +6 more
doaj  

Implementation of molecular karyotyping in clinical genetics

Zdravniški Vestnik, 2013
Rapid development of technologies for the study of the human genome is an expected step after the discovery and sequencing of the entire human genome.
Luca Lovrecic, Borut Peterlin
doaj  

Dimensional phenotype measurement in children with rare genetic conditions: new insights into the aetiology of neurodevelopmental and psychiatric disorders

Frontiers in Psychiatry
Rare neurodevelopmental genetic conditions (NGCs) present with diverse and complex phenotypic manifestations, often resulting in a range of clinical and cognitive difficulties that cut across traditional, categorically defined neurodevelopmental and ...
SJRA Chawner, LC Chetcuti, LC Chetcuti, EK Spackman, M Uljarevic   +4 more
doaj   +1 more source

Genetics and genomic medicine in Sri Lanka

Molecular Genetics & Genomic Medicine, 2019
The completion of the Human Genome Project in 2003 heralded in a new era marked by remarkable advances in biomedical research leading to the establishment of genomics‐based translational medicine mainly in the developed world. However, the development of
Nirmala D. Sirisena, Vajira H. W. Dissanayake   +1 more
doaj   +1 more source

LANDMARKS IN MEDICAL GENETICS: CLASSIC ARTICLES WITH COMMENTARIES

, 2004
Introduction -- Pt. I. Classic descriptions of inherited disease -- Ch. 1. Huntington's disease -- On chorea (1872) / George Huntington -- Ch. 2. Hemophilia -- Account of a remarkable hemorrhagic disposition existing in many individuals of the same ...
Harper, Peter S., ed.
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Medical genetics: advances in brief [PDF]

, 1994
Frances Flinter
  +6 more sources

Eating behaviour and eating disorders in individuals with rare neurodevelopmental variants: current knowledge and future research directions

Frontiers in Psychiatry
Rare neurodevelopmental copy number variants (ND-CNVs) have been implicated in a range of psychiatric and neurodevelopmental conditions. Despite their known association with a range of behavioural outcomes, the role of ND-CNVs in eating disorders and ...
Samuel J. R. A. Chawner
doaj   +1 more source