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Journal of Medical Genetics
|
January 3, 2001
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss
M J Houseman, L A Ellis, A Pagnamenta, et al.
European Journal of Human Genetics : EJHG
|
December 4, 2008
A 15q13.3 microdeletion segregating with autism
Alistair T Pagnamenta, Kirsty Wing, Elham Sadighi Akha, et al.
Nature Communications
|
April 10, 2020
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Wei Wei, Alistair T Pagnamenta, Nicholas Gleadall, et al.
Nature Communications
|
July 24, 2020
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Wei Wei, Alistair T Pagnamenta, Nicholas Gleadall, et al.
Scientific Reports
|
March 20, 2021
Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma
Hannah E Roberts, Maria Lopopolo, Alistair T Pagnamenta, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2012
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss
Alistair T Pagnamenta, Jennie E Murray, Grace Yoon, et al.
Autism Research : Official Journal of the International Society for Autism Research
|
March 18, 2014
A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma
Fabiola Ceroni, Angela Sagar, Nuala H Simpson, et al.
Frontiers in Digital Health
|
October 29, 2021
How to Develop and Implement a Computerized Decision Support System Integrated for Antimicrobial Stewardship? Experiences From Two Swiss Hospital Systems
Gaud Catho, Nicolo S Centemero, Brigitte Waldispühl Suter, et al.
Brain Communications
|
October 10, 2024
<i>FILIP1</i>-associated neuromuscular disorder and phenotypic blending due to paternal UPD6
Laura M Watts, David J Bunyan, Edoardo Giacopuzzi, et al.
Journal of Child Psychology and Psychiatry, and Allied Disciplines
|
April 2, 2022
Editorial Perspective: Speaking up for developmental language disorder - the top 10 priorities for research
Amit A Kulkarni, Katie E Chadd, Sarah B Lambert, et al.
Page
of 27
Search research articles
Search
Showing results (161-170 of 265) with videos related to
Sort By:
Page
of 27
Journal of Medical Genetics
|
January 3, 2001
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss
M J Houseman, L A Ellis, A Pagnamenta, et al.
European Journal of Human Genetics : EJHG
|
December 4, 2008
A 15q13.3 microdeletion segregating with autism
Alistair T Pagnamenta, Kirsty Wing, Elham Sadighi Akha, et al.
Nature Communications
|
April 10, 2020
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Wei Wei, Alistair T Pagnamenta, Nicholas Gleadall, et al.
Nature Communications
|
July 24, 2020
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Wei Wei, Alistair T Pagnamenta, Nicholas Gleadall, et al.
Scientific Reports
|
March 20, 2021
Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma
Hannah E Roberts, Maria Lopopolo, Alistair T Pagnamenta, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2012
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss
Alistair T Pagnamenta, Jennie E Murray, Grace Yoon, et al.
Autism Research : Official Journal of the International Society for Autism Research
|
March 18, 2014
A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma
Fabiola Ceroni, Angela Sagar, Nuala H Simpson, et al.
Frontiers in Digital Health
|
October 29, 2021
How to Develop and Implement a Computerized Decision Support System Integrated for Antimicrobial Stewardship? Experiences From Two Swiss Hospital Systems
Gaud Catho, Nicolo S Centemero, Brigitte Waldispühl Suter, et al.
Brain Communications
|
October 10, 2024
<i>FILIP1</i>-associated neuromuscular disorder and phenotypic blending due to paternal UPD6
Laura M Watts, David J Bunyan, Edoardo Giacopuzzi, et al.
Journal of Child Psychology and Psychiatry, and Allied Disciplines
|
April 2, 2022
Editorial Perspective: Speaking up for developmental language disorder - the top 10 priorities for research
Amit A Kulkarni, Katie E Chadd, Sarah B Lambert, et al.
Page
of 27