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Translational Research : the Journal of Laboratory and Clinical Medicine
|
January 8, 2016
Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis
Lili Gao, Xiao Dang, Liang Huang, et al.
Genes
|
December 23, 2020
Bi-Allelic Pathogenic Variations in <i>MERTK</i> Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa
Cathrine Jespersgaard, Mette Bertelsen, Farah Arif, et al.
Neurology(R) Neuroimmunology & Neuroinflammation
|
July 6, 2023
Immune Repertoire Profiling Reveals Its Clinical Application Potential and Triggers for Neuromyelitis Optica Spectrum Disorders
Yu Miao, Ziyan Shi, Wei Zhang, et al.
American Journal of Human Genetics
|
January 27, 2015
Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6
Andrea Masotti, Paolo Uva, Laura Davis-Keppen, et al.
Scientific Reports
|
February 6, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
Cathrine Jespersgaard, Mingyan Fang, Mette Bertelsen, et al.
American Journal of Human Genetics
|
June 23, 2015
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy
Aurelio Reyes, Laura Melchionda, Alessia Nasca, et al.
Science Immunology
|
February 9, 2020
Noncoding RNA transcription alters chromosomal topology to promote isotype-specific class switch recombination
Gerson Rothschild, Wanwei Zhang, Junghyun Lim, et al.
Journal of Clinical Immunology
|
December 29, 2015
Spectrum of Phenotypes Associated with Mutations in LRBA
Omar K Alkhairy, Hassan Abolhassani, Nima Rezaei, et al.
Hemoglobin
|
December 11, 2025
Identification of a Patient with Transfusion-Dependent β-Thalassemia Caused by Compound Heterozygous Mutations of <i>HBB</i>: C.84_85insC and Common Linked Intronic Variants in <i>HBB</i>
Lang Qin, Xinyu Li, Yin Wang, et al.
Hematology (Amsterdam, Netherlands)
|
May 5, 2025
A Chinese pediatric patient with thalassemia traits and compound heterozygous mutations in the <i>PIEZO1 g</i>ene suspected of having dehydrated hereditary stomatocytosis
Weijie Chen, Xinyu Li, Huaqing Yang, et al.
Page
of 8
Search research articles
Search
Showing results (31-40 of 71) with videos related to
Sort By:
Page
of 8
Translational Research : the Journal of Laboratory and Clinical Medicine
|
January 8, 2016
Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis
Lili Gao, Xiao Dang, Liang Huang, et al.
Genes
|
December 23, 2020
Bi-Allelic Pathogenic Variations in <i>MERTK</i> Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa
Cathrine Jespersgaard, Mette Bertelsen, Farah Arif, et al.
Neurology(R) Neuroimmunology & Neuroinflammation
|
July 6, 2023
Immune Repertoire Profiling Reveals Its Clinical Application Potential and Triggers for Neuromyelitis Optica Spectrum Disorders
Yu Miao, Ziyan Shi, Wei Zhang, et al.
American Journal of Human Genetics
|
January 27, 2015
Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6
Andrea Masotti, Paolo Uva, Laura Davis-Keppen, et al.
Scientific Reports
|
February 6, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
Cathrine Jespersgaard, Mingyan Fang, Mette Bertelsen, et al.
American Journal of Human Genetics
|
June 23, 2015
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy
Aurelio Reyes, Laura Melchionda, Alessia Nasca, et al.
Science Immunology
|
February 9, 2020
Noncoding RNA transcription alters chromosomal topology to promote isotype-specific class switch recombination
Gerson Rothschild, Wanwei Zhang, Junghyun Lim, et al.
Journal of Clinical Immunology
|
December 29, 2015
Spectrum of Phenotypes Associated with Mutations in LRBA
Omar K Alkhairy, Hassan Abolhassani, Nima Rezaei, et al.
Hemoglobin
|
December 11, 2025
Identification of a Patient with Transfusion-Dependent β-Thalassemia Caused by Compound Heterozygous Mutations of <i>HBB</i>: C.84_85insC and Common Linked Intronic Variants in <i>HBB</i>
Lang Qin, Xinyu Li, Yin Wang, et al.
Hematology (Amsterdam, Netherlands)
|
May 5, 2025
A Chinese pediatric patient with thalassemia traits and compound heterozygous mutations in the <i>PIEZO1 g</i>ene suspected of having dehydrated hereditary stomatocytosis
Weijie Chen, Xinyu Li, Huaqing Yang, et al.
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of 8