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American Journal of Medical Genetics. Part A
|
December 31, 2013
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations
Adeline Vanderver, Davide Tonduti, Ilana Kahn, et al.
Therapeutic Advances in Rare Disease
|
July 14, 2025
Finding buried genetic test results in the electronic health record is inefficient and variable across institutions
Olivia J Veatch, Jomol Mathew, Shira Rockowitz, et al.
American Journal of Human Genetics
|
July 25, 2017
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
Cinthya J Zepeda-Mendoza, Jonas Ibn-Salem, Tammy Kammin, et al.
The New England Journal of Medicine
|
February 8, 2008
Phenotype and course of Hutchinson-Gilford progeria syndrome
Melissa A Merideth, Leslie B Gordon, Sarah Clauss, et al.
Neurology. Genetics
|
April 28, 2020
Mitochondrial diseases in North America: An analysis of the NAMDC Registry
Emanuele Barca, Yuelin Long, Victoria Cooley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 21, 2021
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia
Alison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, et al.
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of 9
Search research articles
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Showing results (81-90 of 86) with videos related to
Sort By:
Page
of 9
You have reached the last page of results.
This site can display upto 86 results.
American Journal of Medical Genetics. Part A
|
December 31, 2013
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations
Adeline Vanderver, Davide Tonduti, Ilana Kahn, et al.
Therapeutic Advances in Rare Disease
|
July 14, 2025
Finding buried genetic test results in the electronic health record is inefficient and variable across institutions
Olivia J Veatch, Jomol Mathew, Shira Rockowitz, et al.
American Journal of Human Genetics
|
July 25, 2017
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
Cinthya J Zepeda-Mendoza, Jonas Ibn-Salem, Tammy Kammin, et al.
The New England Journal of Medicine
|
February 8, 2008
Phenotype and course of Hutchinson-Gilford progeria syndrome
Melissa A Merideth, Leslie B Gordon, Sarah Clauss, et al.
Neurology. Genetics
|
April 28, 2020
Mitochondrial diseases in North America: An analysis of the NAMDC Registry
Emanuele Barca, Yuelin Long, Victoria Cooley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 21, 2021
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia
Alison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, et al.
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of 9