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The Journal of Clinical Investigation
|
June 1, 2022
Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome
Andres Ramirez-Martinez, Yichi Zhang, Marie-Jose van den Boogaard, et al.
Iscience
|
May 19, 2025
Comprehensive analysis across <i>SMN2</i> excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy
Maria M Zwartkruis, Joris V Kortooms, Demi Gommers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 10, 2017
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study
Diane Van Opstal, Merel C van Maarle, Klaske Lichtenbelt, et al.
Nephron
|
November 27, 2025
Biallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like Phenotype
Laura R Claus, Rozemarijn Snoek, Siebren Faber, et al.
Journal of Cardiovascular Translational Research
|
June 25, 2026
Tracing the pathogenic PLN p.(Arg14del) variant across the globe; more than just a local curiosity
Esmée van Drie, Freyja H M van Lint, Rob Zwart, et al.
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of 2
Search research articles
Search
Showing results (11-20 of 15) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 15 results.
The Journal of Clinical Investigation
|
June 1, 2022
Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome
Andres Ramirez-Martinez, Yichi Zhang, Marie-Jose van den Boogaard, et al.
Iscience
|
May 19, 2025
Comprehensive analysis across <i>SMN2</i> excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy
Maria M Zwartkruis, Joris V Kortooms, Demi Gommers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 10, 2017
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study
Diane Van Opstal, Merel C van Maarle, Klaske Lichtenbelt, et al.
Nephron
|
November 27, 2025
Biallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like Phenotype
Laura R Claus, Rozemarijn Snoek, Siebren Faber, et al.
Journal of Cardiovascular Translational Research
|
June 25, 2026
Tracing the pathogenic PLN p.(Arg14del) variant across the globe; more than just a local curiosity
Esmée van Drie, Freyja H M van Lint, Rob Zwart, et al.
Page
of 2