Showing results (11-20 of 51) with videos related to

Sort By:
Pageof 6
Cell Stem Cell|March 25, 2015
Quantitative Dynamics of Chromatin Remodeling during Germ Cell Specification from Mouse Embryonic Stem CellsKazuki Kurimoto, Yukihiro Yabuta, Katsuhiko Hayashi, et al.
Human Molecular Genetics|March 29, 2022
Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanismsYan Huang, Mengqi Ma, Xiao Mao, et al.
American Journal of Human Genetics|June 15, 2021
Exome variant discrepancies due to reference-genome differencesHe Li, Moez Dawood, Michael M Khayat, et al.
American Journal of Medical Genetics. Part A|February 5, 2021
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variantAhmed K Saad, Dana Marafi, Tadahiro Mitani, et al.
American Journal of Medical Genetics. Part A|April 2, 2021
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathyRuizhi Duan, Nebal Waill Saadi, Christopher M Grochowski, et al.
American Journal of Medical Genetics. Part A|March 25, 2022
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish familyElifcan Taşdelen, Daniel G Calame, Gulsen Akay, et al.
American Journal of Medical Genetics. Part A|November 24, 2021
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnosesIsabella Herman, Angad Jolly, Haowei Du, et al.
Annals of Clinical and Translational Neurology|September 15, 2021
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variantDaniel G Calame, Jawid M Fatih, Isabella Herman, et al.
American Journal of Medical Genetics. Part A|January 4, 2023
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephalyMoez Dawood, Gulsen Akay, Tadahiro Mitani, et al.
Genetics in Medicine Open|December 13, 2024
The impact of the Turkish population variome on the genomic architecture of rare disease traitsZeynep Coban-Akdemir, Xiaofei Song, Francisco C Ceballos, et al.
Pageof 6