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American Journal of Medical Genetics. Part A
|
May 27, 2021
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
Bradley Bowles, Alejandro Ferrer, Carla J Nishimura, et al.
Human Genetics
|
March 28, 2024
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data
Alejandro Ferrer, Patrick Duffy, Rory J Olson, et al.
American Journal of Medical Genetics. Part A
|
May 11, 2022
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders
Lauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman, et al.
European Journal of Human Genetics : EJHG
|
June 3, 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Theodore G Drivas, Dong Li, Divya Nair, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2020
Impact of integrated translational research on clinical exome sequencing
Eric W Klee, Margot A Cousin, Filippo Pinto E Vairo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 6, 2023
Impact of integrated translational research on clinical exome sequencing
Eric W Klee, Margot A Cousin, Filippo Pinto E Vairo, et al.
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Search research articles
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Showing results (51-60 of 56) with videos related to
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Page
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You have reached the last page of results.
This site can display upto 56 results.
American Journal of Medical Genetics. Part A
|
May 27, 2021
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
Bradley Bowles, Alejandro Ferrer, Carla J Nishimura, et al.
Human Genetics
|
March 28, 2024
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data
Alejandro Ferrer, Patrick Duffy, Rory J Olson, et al.
American Journal of Medical Genetics. Part A
|
May 11, 2022
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders
Lauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman, et al.
European Journal of Human Genetics : EJHG
|
June 3, 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Theodore G Drivas, Dong Li, Divya Nair, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2020
Impact of integrated translational research on clinical exome sequencing
Eric W Klee, Margot A Cousin, Filippo Pinto E Vairo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 6, 2023
Impact of integrated translational research on clinical exome sequencing
Eric W Klee, Margot A Cousin, Filippo Pinto E Vairo, et al.
Page
of 6