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Image1_Case Report: Novel Biallelic Null Variants of SMPD4 ..:
Weigang Ji
;
Xiangtian Kong
;
Honggang Yin
..
doi:10.3389/fgene.2022.872264.s001. , 2022
Link:
https://doi.org/10.3389/fgene.2022.872264.s001
RT Journal T1
Image1_Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies.TIF
UL https://suche.suub.uni-bremen.de/peid=base-ftfrontimediafig:oai:figshare.com:article_19770439&Exemplar=1&LAN=DE A1 Weigang Ji A1 Xiangtian Kong A1 Honggang Yin A1 Jian Xu A1 Xueqian Wang YR 2022 K1 Genetics K1 Genetic Engineering K1 Biomarkers K1 Developmental Genetics (incl. Sex Determination) K1 Epigenetics (incl. Genome Methylation and Epigenomics) K1 Gene Expression (incl. Microarray and other genome-wide approaches) K1 Genome Structure and Regulation K1 Genomics K1 Genetically Modified Animals K1 Livestock Cloning K1 Gene and Molecular Therapy K1 SMPD4 K1 neurodevelopmental disorder (NDD) K1 null variants K1 microcephaly K1 structural brain anomalies K1 arthrogryposis K1 early death JF doi:10.3389/fgene.2022.872264.s001 LK http://dx.doi.org/https://doi.org/10.3389/fgene.2022.872264.s001 DO https://doi.org/10.3389/fgene.2022.872264.s001 SF ELIB - SuUB Bremen
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