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Pagnamenta

Showing results (181-190 of 265) with videos related to

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Experimental Eye Research|October 27, 2018
A novel role for CRIM1 in the corneal response to UV and pterygium developmentEleonora Maurizi, Davide Schiroli, Sarah D Atkinson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 31, 2019
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United KingdomKatharina Schwarze, James Buchanan, Jilles M Fermont, et al.
Journal of Medical Genetics|September 18, 2014
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorderChristian Babbs, Deborah Lloyd, Alistair T Pagnamenta, et al.
Clinical Genetics|October 6, 2021
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defectsAlistair T Pagnamenta, Adam Jackson, Rahat Perveen, et al.
Journal of Medical Genetics|October 26, 2010
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disabilityAlistair T Pagnamenta, Hameed Khan, Susan Walker, et al.
Human Mutation|April 14, 2025
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and <i>SRRM2</i> HaploinsufficiencyAlistair T Pagnamenta, Jing Yu, Tracey A Willis, et al.
The Lancet. Infectious Diseases|July 23, 2022
Impact of interactive computerised decision support for hospital antibiotic use (COMPASS): an open-label, cluster-randomised trial in three Swiss hospitalsGaud Catho, Julien Sauser, Valentina Coray, et al.
Journal of Medical Genetics|August 9, 2023
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes ProjectA Rachel Moore, Jing Yu, Yang Pei, et al.
Journal of Nephrology|September 13, 2023
Prevalence of SARS-CoV-2 infection and impact of vaccination in dialysis patients over two years of the pandemicPaolo Hitz, Alberto Pagnamenta, Laura Pertusini, et al.
Open Heart|April 22, 2021
Heart rate and adverse outcomes in patients with prevalent atrial fibrillationGiorgio Moschovitis, Linda S B Johnson, Steffen Blum, et al.
Pageof 27

Showing results (181-190 of 265) with videos related to

Sort By:
Pageof 27
Experimental Eye Research|October 27, 2018
A novel role for CRIM1 in the corneal response to UV and pterygium developmentEleonora Maurizi, Davide Schiroli, Sarah D Atkinson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 31, 2019
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United KingdomKatharina Schwarze, James Buchanan, Jilles M Fermont, et al.
Journal of Medical Genetics|September 18, 2014
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorderChristian Babbs, Deborah Lloyd, Alistair T Pagnamenta, et al.
Clinical Genetics|October 6, 2021
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defectsAlistair T Pagnamenta, Adam Jackson, Rahat Perveen, et al.
Journal of Medical Genetics|October 26, 2010
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disabilityAlistair T Pagnamenta, Hameed Khan, Susan Walker, et al.
Human Mutation|April 14, 2025
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and <i>SRRM2</i> HaploinsufficiencyAlistair T Pagnamenta, Jing Yu, Tracey A Willis, et al.
The Lancet. Infectious Diseases|July 23, 2022
Impact of interactive computerised decision support for hospital antibiotic use (COMPASS): an open-label, cluster-randomised trial in three Swiss hospitalsGaud Catho, Julien Sauser, Valentina Coray, et al.
Journal of Medical Genetics|August 9, 2023
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes ProjectA Rachel Moore, Jing Yu, Yang Pei, et al.
Journal of Nephrology|September 13, 2023
Prevalence of SARS-CoV-2 infection and impact of vaccination in dialysis patients over two years of the pandemicPaolo Hitz, Alberto Pagnamenta, Laura Pertusini, et al.
Open Heart|April 22, 2021
Heart rate and adverse outcomes in patients with prevalent atrial fibrillationGiorgio Moschovitis, Linda S B Johnson, Steffen Blum, et al.
Pageof 27