Showing results (11-20 of 35) with videos related to
Sort By:
Pageof 4
European Journal of Human Genetics : EJHG|June 11, 2015
Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disordersChing Moey, Susan J Hinze, Louise Brueton, et al.NPJ Genomic Medicine|January 29, 2021
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national levelStephanie Best, Helen Brown, Sebastian Lunke, et al.American Journal of Medical Genetics. Part A|November 24, 2020
Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variantsEmmanuelle Souzeau, Owen M Siggs, Francesca Pasutto, et al.European Journal of Human Genetics : EJHG|July 28, 2022
Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variantEsra Yıldız Bölükbaşı, Justyna A Karolak, Przemyslaw Szafranski, et al.American Journal of Obstetrics and Gynecology|August 31, 2025
Circular RNAs accumulate in aging human placental tissue and in stillbirth, leading to DNA damage and cellular senescenceAnya L Arthurs, Matilda R Jackson, Dylan McCULLOUGH, et al.Human Mutation|June 22, 2016
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome SequencingChristopher P Barnett, Nathalie J Nataren, Manuela Klingler-Hoffmann, et al.Molecular Vision|October 26, 2022
The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literatureLachlan S W Knight, Sean Mullany, Deepa A Taranath, et al.American Journal of Medical Genetics. Part A|March 7, 2020
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndromePeer Arts, Jessica Garland, Alicia B Byrne, et al.Human Mutation|April 3, 2016
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate FamiliesAideen M McInerney-Leo, Jessica E Harris, Michael Gattas, et al.Journal of Medical Genetics|January 29, 2020
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesisAlicia B Byrne, Shuji Mizumoto, Peer Arts, et al.Pageof 4