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Human Genetics|June 23, 2021
Genome sequencing in families with congenital limb malformationsJonas Elsner, Martin A Mensah, Manuel Holtgrewe, et al.American Journal of Human Genetics|September 17, 2013
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunctionKatrin Koehler, Meera Malik, Saqib Mahmood, et al.The Journal of Clinical Investigation|May 4, 2021
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammationEva Lausberg, Sebastian Gießelmann, Joseph P Dewulf, et al.Genome Medicine|November 30, 2023
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneitySheng-Jia Lin, Barbara Vona, Tracy Lau, et al.American Journal of Human Genetics|July 10, 2012
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomaliesHyung-Goo Kim, Hyun-Taek Kim, Natalia T Leach, et al.Nature Genetics|October 28, 2022
Adult human kidney organoids originate from CD24<sup>+</sup> cells and represent an advanced model for adult polycystic kidney diseaseYaoxian Xu, Christoph Kuppe, Javier Perales-Patón, et al.Nature|November 15, 2023
Single-cell, whole-embryo phenotyping of mammalian developmental disordersXingfan Huang, Jana Henck, Chengxiang Qiu, et al.Nature|February 9, 2023
Aberrant phase separation and nucleolar dysfunction in rare genetic diseasesMartin A Mensah, Henri Niskanen, Alexandre P Magalhaes, et al.American Journal of Human Genetics|July 30, 2022
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse modelAntonio Vitobello, Benoit Mazel, Vera G Lelianova, et al.Brain : a Journal of Neurology|August 8, 2020
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorderPauline E Schneeberger, Fanny Kortüm, Georg Christoph Korenke, et al.Pageof 15