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Frontiers in Genetics|October 10, 2022
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseasesSoojin Park, Se Song Jang, Seungbok Lee, et al.The EMBO Journal|November 22, 2019
LIN28A loss of function is associated with Parkinson's disease pathogenesisMi-Yoon Chang, Boram Oh, Jang-Eun Choi, et al.Blood|June 11, 2021
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndromeSangmoon Lee, Chang Hoon Shin, Jawon Lee, et al.Nature Genetics|May 17, 2011
Recessive LAMC3 mutations cause malformations of occipital cortical developmentTanyeri Barak, Kenneth Y Kwan, Angeliki Louvi, et al.Scientific Reports|January 31, 2020
Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred populationYoungha Lee, Soojin Park, Jin Sook Lee, et al.Frontiers in Immunology|October 4, 2018
Taurodeoxycholate Increases the Number of Myeloid-Derived Suppressor Cells That Ameliorate Sepsis in MiceSooghee Chang, Youn-Hee Kim, Young-Joo Kim, et al.Nature Genetics|February 7, 2018
CLCN2 chloride channel mutations in familial hyperaldosteronism type IIUte I Scholl, Gabriel Stölting, Julia Schewe, et al.Genome Medicine|August 7, 2025
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disordersJihoon G Yoon, Hyunsoo Jang, Seungbok Lee, et al.Nature Genetics|August 6, 2013
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronismUte I Scholl, Gerald Goh, Gabriel Stölting, et al.Nature Genetics|April 2, 2013
Recessive mutations in DGKE cause atypical hemolytic-uremic syndromeMathieu Lemaire, Véronique Frémeaux-Bacchi, Franz Schaefer, et al.Pageof 18