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European Journal of Human Genetics : EJHG|September 15, 2017
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresiaJacqueline A C Goos, Sigrid M A Swagemakers, Stephen R F Twigg, et al.Human Molecular Genetics|April 16, 2008
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activityMiriam Gordillo, Hugo Vega, Alison H Trainer, et al.Human Genomics|June 30, 2016
Experience of a multidisciplinary task force with exome sequencing for Mendelian disordersS Fokstuen, P Makrythanasis, E Hammar, et al.Human Molecular Genetics|March 21, 2020
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndromeReham Alharatani, Athina Ververi, Ana Beleza-Meireles, et al.Journal of Medical Genetics|November 26, 2016
Diagnostic value of exome and whole genome sequencing in craniosynostosisKerry A Miller, Stephen R F Twigg, Simon J McGowan, et al.Human Genetics|May 10, 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorderLot Snijders Blok, Susan M Hiatt, Kevin M Bowling, et al.Human Molecular Genetics|September 6, 2022
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyriaAthina Ververi, Sara Zagaglia, Lara Menzies, et al.American Journal of Medical Genetics. Part A|July 26, 2020
Genotype-phenotype correlation at codon 1740 of SETD2Rachel Rabin, Alireza Radmanesh, Ian A Glass, et al.The Journal of Clinical Investigation|April 18, 2017
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiencyJulien Cottineau, Molly C Kottemann, Francis P Lach, et al.Nature Communications|February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationMarie Bernkopf, Ummi B Abdullah, Stephen J Bush, et al.Pageof 34