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Cambridge Prisms. Precision Medicine
|
March 29, 2024
The ethical challenges of diversifying genomic data: A qualitative evidence synthesis
Faranak Hardcastle, Kate Lyle, Rachel Horton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 13, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
Allan Bayat, Alexej Knaus, Annika Wollenberg Juul, et al.
Journal of Medical Genetics
|
March 26, 2018
Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
Matthias Begemann, Faisal I Rezwan, Jasmin Beygo, et al.
American Journal of Medical Genetics. Part A
|
August 11, 2019
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals
Deepika D'Cunha Burkardt, Anna Zachariou, Chey Loveday, et al.
Science (New York, N.Y.)
|
November 10, 2018
Quantifying the contribution of recessive coding variation to developmental disorders
Hilary C Martin, Wendy D Jones, Rebecca McIntyre, et al.
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of 5
Search research articles
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Showing results (41-50 of 45) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 45 results.
Cambridge Prisms. Precision Medicine
|
March 29, 2024
The ethical challenges of diversifying genomic data: A qualitative evidence synthesis
Faranak Hardcastle, Kate Lyle, Rachel Horton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 13, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
Allan Bayat, Alexej Knaus, Annika Wollenberg Juul, et al.
Journal of Medical Genetics
|
March 26, 2018
Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
Matthias Begemann, Faisal I Rezwan, Jasmin Beygo, et al.
American Journal of Medical Genetics. Part A
|
August 11, 2019
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals
Deepika D'Cunha Burkardt, Anna Zachariou, Chey Loveday, et al.
Science (New York, N.Y.)
|
November 10, 2018
Quantifying the contribution of recessive coding variation to developmental disorders
Hilary C Martin, Wendy D Jones, Rebecca McIntyre, et al.
Page
of 5