Search research articles
Contact Us
Filters
Showing results (21-30 of 30) with videos related to
Page
of 3
Sort By:
You have reached the last page of results.
This site can display upto 30 results.
BMJ Paediatrics Open
|
April 12, 2018
A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort
Lilian Downie, Jane L Halliday, Rachel A Burt, et al.
Plos One
|
September 1, 2010
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33
Ryan N Traylor, Damien L Bruno, Trent Burgess, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|
May 18, 2026
Speech-based digital cognitive assessment for clinical trials: Detecting cognitive impairment stages and AD biomarker relations across European cohorts
Alexandra König, Johannes Tröger, Elisa Mallick, et al.
American Journal of Medical Genetics. Part A
|
February 23, 2019
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome
Sara Griffiths, Chey Loveday, Anna Zachariou, et al.
Epilepsia Open
|
May 4, 2026
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity
Trupti Jadhav, Sophie E Bouffler, Emily Innes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 16, 2018
Meeting the challenges of implementing rapid genomic testing in acute pediatric care
Zornitza Stark, Sebastian Lunke, Gemma R Brett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 17, 2020
Clinical impact of genomic testing in patients with suspected monogenic kidney disease
Kushani Jayasinghe, Zornitza Stark, Peter G Kerr, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 11, 2016
Phenotypic insights into ADCY5-associated disease
Florence C F Chang, Ana Westenberger, Russell C Dale, et al.
Wellcome Open Research
|
June 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variants
Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, et al.
Nature Genetics
|
June 16, 2009
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
Gillian I Rice, Jacquelyn Bond, Aruna Asipu, et al.
Page
of 3
Search research articles
Search
Showing results (21-30 of 30) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 30 results.
BMJ Paediatrics Open
|
April 12, 2018
A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort
Lilian Downie, Jane L Halliday, Rachel A Burt, et al.
Plos One
|
September 1, 2010
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33
Ryan N Traylor, Damien L Bruno, Trent Burgess, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|
May 18, 2026
Speech-based digital cognitive assessment for clinical trials: Detecting cognitive impairment stages and AD biomarker relations across European cohorts
Alexandra König, Johannes Tröger, Elisa Mallick, et al.
American Journal of Medical Genetics. Part A
|
February 23, 2019
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome
Sara Griffiths, Chey Loveday, Anna Zachariou, et al.
Epilepsia Open
|
May 4, 2026
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity
Trupti Jadhav, Sophie E Bouffler, Emily Innes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 16, 2018
Meeting the challenges of implementing rapid genomic testing in acute pediatric care
Zornitza Stark, Sebastian Lunke, Gemma R Brett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 17, 2020
Clinical impact of genomic testing in patients with suspected monogenic kidney disease
Kushani Jayasinghe, Zornitza Stark, Peter G Kerr, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 11, 2016
Phenotypic insights into ADCY5-associated disease
Florence C F Chang, Ana Westenberger, Russell C Dale, et al.
Wellcome Open Research
|
June 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variants
Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, et al.
Nature Genetics
|
June 16, 2009
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
Gillian I Rice, Jacquelyn Bond, Aruna Asipu, et al.
Page
of 3