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Human mutation

Showing results (1341-1350 of 5,734) with videos related to

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Human Mutation|May 1, 2025
Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 <i>PDGFRB</i> Variants and Their Role in Downstream SignalingTitas Gladkauskas, Ileana Cristea, Roya Mehrasa, et al.
Human Mutation|April 23, 2025
Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable ImmunodeficiencyTayebeh Ranjbarnejad, Hassan Abolhassani, Roya Sherkat, et al.
Human Mutation|April 14, 2025
The Association of Heterozygous p.R4810K of RNF213 and Long-Term Unfavorable Outcomes after Encephaloduroarteriosynangiosis in Chinese Pediatric Patients with Moyamoya DiseaseQingbao Guo, Fangbin Hao, Qian-Nan Wang, et al.
Human Mutation|April 14, 2025
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex DeficiencyHelene Bruhn, Karin Naess, Sofia Ygberg, et al.
Human Mutation|April 14, 2025
Somatic Double Inactivation of <i>NF1</i> Associated with NF1-Related Pectus Excavatum DeformityCristina Chelleri, Marcello Scala, Patrizia De Marco, et al.
Human Mutation|April 14, 2025
An Update on Reported Variants in the Skeletal Muscle <i>α</i>-Actin (<i>ACTA1</i>) GeneJoshua S Clayton, Mridul Johari, Rhonda L Taylor, et al.
Human Mutation|April 14, 2025
Quantitative Phenotype Morbidity Description of <i>SATB2</i>-Associated SyndromeYuri A Zarate, Katherine Bosanko, Amrit Kannan, et al.
Human Mutation|April 14, 2025
The Broad Spectrum of <i>TP53</i> Mutations in CLL: Evidence of Multiclonality and Novel Mutation HotspotsGrégory Lazarian, Bernard Leroy, Floriane Theves, et al.
Human Mutation|April 14, 2025
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and <i>SRRM2</i> HaploinsufficiencyAlistair T Pagnamenta, Jing Yu, Tracey A Willis, et al.
Human Mutation|April 14, 2025
COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese PatientXue-Yuan Zhang, Jing Zhang, Yi Lu
Pageof 574

Showing results (1341-1350 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|May 1, 2025
Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 <i>PDGFRB</i> Variants and Their Role in Downstream SignalingTitas Gladkauskas, Ileana Cristea, Roya Mehrasa, et al.
Human Mutation|April 23, 2025
Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable ImmunodeficiencyTayebeh Ranjbarnejad, Hassan Abolhassani, Roya Sherkat, et al.
Human Mutation|April 14, 2025
The Association of Heterozygous p.R4810K of RNF213 and Long-Term Unfavorable Outcomes after Encephaloduroarteriosynangiosis in Chinese Pediatric Patients with Moyamoya DiseaseQingbao Guo, Fangbin Hao, Qian-Nan Wang, et al.
Human Mutation|April 14, 2025
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex DeficiencyHelene Bruhn, Karin Naess, Sofia Ygberg, et al.
Human Mutation|April 14, 2025
Somatic Double Inactivation of <i>NF1</i> Associated with NF1-Related Pectus Excavatum DeformityCristina Chelleri, Marcello Scala, Patrizia De Marco, et al.
Human Mutation|April 14, 2025
An Update on Reported Variants in the Skeletal Muscle <i>α</i>-Actin (<i>ACTA1</i>) GeneJoshua S Clayton, Mridul Johari, Rhonda L Taylor, et al.
Human Mutation|April 14, 2025
Quantitative Phenotype Morbidity Description of <i>SATB2</i>-Associated SyndromeYuri A Zarate, Katherine Bosanko, Amrit Kannan, et al.
Human Mutation|April 14, 2025
The Broad Spectrum of <i>TP53</i> Mutations in CLL: Evidence of Multiclonality and Novel Mutation HotspotsGrégory Lazarian, Bernard Leroy, Floriane Theves, et al.
Human Mutation|April 14, 2025
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and <i>SRRM2</i> HaploinsufficiencyAlistair T Pagnamenta, Jing Yu, Tracey A Willis, et al.
Human Mutation|April 14, 2025
COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese PatientXue-Yuan Zhang, Jing Zhang, Yi Lu
Pageof 574