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Journal of Child Neurology
|
May 4, 2017
Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights
Uluç Yiş, Kerstin Becker, Semra Hız Kurul, et al.
Molecular Cell
|
September 11, 2025
Rapid UPF1 depletion illuminates the temporal dynamics of the NMD-regulated human transcriptome
Volker Boehm, Damaris Wallmeroth, Paul O Wulf, et al.
Genes
|
January 21, 2023
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability
Maria Asif, Maryam Anayat, Faiza Tariq, et al.
NPJ Genomic Medicine
|
April 3, 2026
A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics
Felix Boschann, Johannes Kopp, Susanne Römer, et al.
European Journal of Medical Genetics
|
May 8, 2012
De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature
Kerstin Becker, Nataliya Di Donato, Muriel Holder-Espinasse, et al.
Journal of Human Genetics
|
August 8, 2019
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia
Hormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, et al.
Genome Research
|
September 13, 2024
Long-read transcriptome sequencing of CLL and MDS patients uncovers molecular effects of <i>SF3B1</i> mutations
Alicja Pacholewska, Matthias Lienhard, Mirko Brüggemann, et al.
Journal of Human Genetics
|
June 6, 2019
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia
Hormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, et al.
The Journal of Investigative Dermatology
|
April 4, 2013
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length
Katja-Martina Eckl, Rotem Tidhar, Holger Thiele, et al.
International Journal of Hygiene and Environmental Health
|
August 10, 2013
A systematic approach for designing a HBM pilot study for Europe
Kerstin Becker, Margarete Seiwert, Ludwine Casteleyn, et al.
Page
of 11
Search research articles
Search
Showing results (61-70 of 101) with videos related to
Sort By:
Page
of 11
Journal of Child Neurology
|
May 4, 2017
Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights
Uluç Yiş, Kerstin Becker, Semra Hız Kurul, et al.
Molecular Cell
|
September 11, 2025
Rapid UPF1 depletion illuminates the temporal dynamics of the NMD-regulated human transcriptome
Volker Boehm, Damaris Wallmeroth, Paul O Wulf, et al.
Genes
|
January 21, 2023
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability
Maria Asif, Maryam Anayat, Faiza Tariq, et al.
NPJ Genomic Medicine
|
April 3, 2026
A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics
Felix Boschann, Johannes Kopp, Susanne Römer, et al.
European Journal of Medical Genetics
|
May 8, 2012
De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature
Kerstin Becker, Nataliya Di Donato, Muriel Holder-Espinasse, et al.
Journal of Human Genetics
|
August 8, 2019
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia
Hormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, et al.
Genome Research
|
September 13, 2024
Long-read transcriptome sequencing of CLL and MDS patients uncovers molecular effects of <i>SF3B1</i> mutations
Alicja Pacholewska, Matthias Lienhard, Mirko Brüggemann, et al.
Journal of Human Genetics
|
June 6, 2019
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia
Hormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, et al.
The Journal of Investigative Dermatology
|
April 4, 2013
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length
Katja-Martina Eckl, Rotem Tidhar, Holger Thiele, et al.
International Journal of Hygiene and Environmental Health
|
August 10, 2013
A systematic approach for designing a HBM pilot study for Europe
Kerstin Becker, Margarete Seiwert, Ludwine Casteleyn, et al.
Page
of 11