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Clinical Genetics
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August 21, 2012
Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness
Neil A Hanchard, David R Murdock, Pilar L Magoulas, et al.
Congenital Anomalies
|
July 4, 2017
SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly
Bethany Stokes, Seth I Berger, Beth A Hall, et al.
Biorxiv : the Preprint Server for Biology
|
August 26, 2024
<i>MYH11</i> rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload
Zhen Zhou, Kgosi Hughes, Nisha Saif, et al.
Human Mutation
|
November 1, 2022
A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay
Hongzheng Dai, Wenmiao Zhu, Bo Yuan, et al.
Plos Genetics
|
July 14, 2025
MYH11 rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload
Zhen Zhou, Kgosi Hughes, Nisha Saif, et al.
American Journal of Medical Genetics. Part A
|
April 9, 2022
A novel, de novo intronic variant in POGZ causes White-Sutton syndrome
Ashanta Merriweather, David R Murdock, Jill A Rosenfeld, et al.
Pediatric Diabetes
|
August 13, 2021
Exome sequencing in children with clinically suspected maturity-onset diabetes of the young
Mustafa Tosur, Claudia Soler-Alfonso, Katie M Chan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 6, 2026
Employing bioinformatic tools to identify high-risk variants of uncertain significance in aortopathy genes that increase aortic dissection risk
John DePaolo, Dong-Chuan Guo, David R Murdock, et al.
BMC Medical Genetics
|
June 6, 2014
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome
Claudia M B Carvalho, Luciana W Zuccherato, Christopher L Williams, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2018
The phenotypic spectrum of Xia-Gibbs syndrome
Yunyun Jiang, Michael F Wangler, Amy L McGuire, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 48) with videos related to
Sort By:
Page
of 5
Clinical Genetics
|
August 21, 2012
Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness
Neil A Hanchard, David R Murdock, Pilar L Magoulas, et al.
Congenital Anomalies
|
July 4, 2017
SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly
Bethany Stokes, Seth I Berger, Beth A Hall, et al.
Biorxiv : the Preprint Server for Biology
|
August 26, 2024
<i>MYH11</i> rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload
Zhen Zhou, Kgosi Hughes, Nisha Saif, et al.
Human Mutation
|
November 1, 2022
A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay
Hongzheng Dai, Wenmiao Zhu, Bo Yuan, et al.
Plos Genetics
|
July 14, 2025
MYH11 rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload
Zhen Zhou, Kgosi Hughes, Nisha Saif, et al.
American Journal of Medical Genetics. Part A
|
April 9, 2022
A novel, de novo intronic variant in POGZ causes White-Sutton syndrome
Ashanta Merriweather, David R Murdock, Jill A Rosenfeld, et al.
Pediatric Diabetes
|
August 13, 2021
Exome sequencing in children with clinically suspected maturity-onset diabetes of the young
Mustafa Tosur, Claudia Soler-Alfonso, Katie M Chan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 6, 2026
Employing bioinformatic tools to identify high-risk variants of uncertain significance in aortopathy genes that increase aortic dissection risk
John DePaolo, Dong-Chuan Guo, David R Murdock, et al.
BMC Medical Genetics
|
June 6, 2014
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome
Claudia M B Carvalho, Luciana W Zuccherato, Christopher L Williams, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2018
The phenotypic spectrum of Xia-Gibbs syndrome
Yunyun Jiang, Michael F Wangler, Amy L McGuire, et al.
Page
of 5