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Neurology|July 16, 2025
Use of Antiseizure Medications Early in Pregnancy and the Risk of Major Malformations in the NewbornSonia Hernandez-Diaz, Moira Quinn, Susan Conant, et al.Human Genetics|March 18, 2017
Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic herniaMauro Longoni, Frances A High, Hongjian Qi, et al.American Journal of Respiratory and Critical Care Medicine|February 2, 2023
A Tracheal Aspirate-derived Airway Basal Cell Model Reveals a Proinflammatory Epithelial Defect in Congenital Diaphragmatic HerniaRichard Wagner, Gaurang M Amonkar, Wei Wang, et al.Biorxiv : the Preprint Server for Biology|May 13, 2026
Modeling patient variants of Cnot1 and Cdc42bpb results in distinct forms of congenital diaphragmatic hernia in miceEric L Bogenschutz, Cynthia Carpenter, Ameleen Wong, et al.Journal of Proteome Research|April 20, 2026
Proximity Labeling Reveals How Lrp2 Interacts with the Endocytic MachineTian H Shen, Andrew Beenken, Hediye Erdjument-Bromage, et al.Proceedings of the National Academy of Sciences of the United States of America|May 2, 2018
Systematic analysis of copy number variation associated with congenital diaphragmatic herniaQihui Zhu, Frances A High, Chengsheng Zhang, et al.Proceedings of the National Academy of Sciences of the United States of America|August 10, 2014
Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformaticsMauro Longoni, Frances A High, Meaghan K Russell, et al.American Journal of Human Genetics|September 6, 2022
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disabilityYan Huang, Gabrielle Lemire, Lauren C Briere, et al.Human Molecular Genetics|May 2, 2020
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairmentDebdeep Dutta, Lauren C Briere, Oguz Kanca, et al.JCI Insight|April 23, 2026
Failure of endocytic flux in Donnai-Barrow Syndrome caused by LRP2 p.C1400RAndrew Beenken, Tian H Shen, Aryan Ghotra, et al.Pageof 5