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A Hurst

Showing results (451-460 of 476) with videos related to

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BMJ Open|October 23, 2021
Vitamin D insufficiency in COVID-19 and influenza A, and critical illness survivors: a cross-sectional studyEmma A Hurst, Richard J Mellanby, Ian Handel, et al.
Neurology|April 1, 2016
Delineation of the movement disorders associated with FOXG1 mutationsApostolos Papandreou, Ruth B Schneider, Erika F Augustine, et al.
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.
Pageof 48

Showing results (451-460 of 476) with videos related to

Sort By:
Pageof 48
BMJ Open|October 23, 2021
Vitamin D insufficiency in COVID-19 and influenza A, and critical illness survivors: a cross-sectional studyEmma A Hurst, Richard J Mellanby, Ian Handel, et al.
Neurology|April 1, 2016
Delineation of the movement disorders associated with FOXG1 mutationsApostolos Papandreou, Ruth B Schneider, Erika F Augustine, et al.
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.
Pageof 48