Results 31 to 40 of about 754,623 (244)

Genetics in medical practice [PDF]

Genetics in Medicine, 2002
Medical genetics has been formally recognized as a medical specialty in the United States only within the past decade. Initially, medical genetics was concerned with relatively rare single gene or chromosomal disorders, but with the sequencing of the human genome, genetics has become the driving force in medical research and is now poised for ...
openaire   +2 more sources

ASHG Position Statement : The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results [PDF]

, 2019
© 2019 American Society of Human Genetics. This manuscript version is made available under the CC-BY-NC-ND 4.0 license: http://creativecommons.org/licenses/by-nc-nd/4.0/ This author accepted manuscript is made available following 6 month embargo from ...
Rehm, Heidi L., Nelson, Tanya N, Brothers, Kyle B., Fitzgerald-Butt, Sara, Jarvik, Gail P., Wagner, Jennifer K, Ormond, Kelly E., Vassy, Jason L, Garrison, Nanibaa' A, Jamal, Leila, Jarvik, Gail P, Levy, Howard P, McCormick, Jennifer B, Richer, Julie, Nelson, Tanya N., Garrison, Nanibaa’ A., McCormick, Jennifer B., Rehm, Heidi L, Vassy, Jason L., Ormond, Kelly E, Wagner, Jennifer K., Souzeau, Emmanuelle, Bombard, Yvonne, Brothers, Kyle B, James, Cynthia A, Levy, Howard P., James, Cynthia A.   +26 more
core   +1 more source

Ethical, legal, and policy dimensions and contentions for reanalysis and reinterpretation of clinical genetic testing results

Frontiers in Genetics
The rapid evolution of genomic knowledge has made reanalysis and reinterpretation of clinical genetic testing results an ethical imperative to ensure optimal patient care. However, significant discrepancies persist between policies, laboratory practices,
Zachary T. Sentell, Zachary T. Sentell, Ma’n H. Zawati, Ma’n H. Zawati   +3 more
doaj   +1 more source

Revisitando o desvendamento da etiologia da síndrome de Turner Revisiting establishment of the etiology of Turner syndrome

História, Ciências, Saúde: Manguinhos, 2009
Com base em entrevista com José Carlos Cabral de Almeida, o artigo aborda a investigação que culminou no estabelecimento da etiologia genética da síndrome de Turner.
Monica de Paula Jung, Maria Helena Cabral de Almeida Cardoso, Maria Auxiliadora Monteiro Villar, Juan Clinton Llerena Jr.   +3 more
doaj   +1 more source

Application of active learning modalities to achieve medical genetics competencies and their learning outcome assessments

, 2017
Nobuko Hagiwara Division of Cardiovascular Medicine, Department of Internal Medicine, School of Medicine, University of California, Davis, CA, USA Abstract: The steadily falling costs of genome sequencing, coupled with the growing number of genetic tests
Nobuko Hagiwara, Hagiwara, Nobuko, Hagiwara N   +2 more
core   +1 more source

COUNSELING IN MEDICAL GENETICS

The Journal of Nervous and Mental Disease, 1955
Mode of access: Internet.
openaire   +2 more sources

General aspects, main steps and special issues in genetic counselling medical practice

, 2016
Резюме. Статията основно е насочена към медици, които не са експерти или специалисти в полето на медицинската генетика, a по-скоро към болничните клиницисти, фамилни лекари и немедицински генетични консултанти със специфичен опит в някоя от областите на ...
Hachmeriyan, Mari; Asisst. prof. Department of Medical Genetics, Medical University of Varna, Angelova, Lyudmila; Medical University of Varna   +1 more
core   +1 more source

Integrated View of Population Genetics [PDF]

, 2019
Population genetics is the basis of evolutionary studies, and has been widely used in several researches. This recent field of science has important applications for the management of populations (natural and domesticated), as well as for evolutionary ...

core   +1 more source

Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2‐negative individuals who had genetic testing in a large urban comprehensive cancer center

Cancer Medicine, 2022
Background There is sparse clinical information on the racial and ethnic distribution of results of multigene panel testing among individuals at high risk for hereditary cancer.
Sushma Tatineni, Meri Tarockoff, Nadine Abdallah, Kristen S. Purrington, Hadeel Assad, Rachel Reagle, Nancie Petrucelli, Michael S. Simon   +7 more
doaj   +1 more source

Studies in Population Genetics [PDF]

, 2012
This book deals with central concepts in population genetics, describing the main evolutionary processes that influence the allele frequency distribution and change.

core   +1 more source