A complex dinucleotide repeat polymorphism in the human Na+K+ATPase alpha subunit (ATP1A2) gene

Longitudinal patterns of C-reactive protein values in calcium pyrophosphate deposition disease.

Scandinavian journal of rheumatology·2026

Advancing outcome measure development and analytical approaches: Pain in Animals Workshop 2023.

Frontiers in pain research (Lausanne, Switzerland)·2025

Outcome assessment in veterinary pain studies: a pain in animals workshop (PAW) perspective.

Frontiers in pain research (Lausanne, Switzerland)·2025

MIR137 polygenic risk for schizophrenia and ephrin-regulated pathway: Role in lateral ventricles and corpus callosum volume.

International journal of clinical and health psychology : IJCHP·2024

In Vivo reflectance confocal microscopy of cutaneous acute graft-versus-host disease: concordance with histopathology and interobserver reproducibility of a glossary with representative images.

Journal of the European Academy of Dermatology and Venereology : JEADV·2022

Time benefits of 3D planning in orthognathic surgery: a systematic review.

The British journal of oral & maxillofacial surgery·2022

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.

Human molecular genetics·2026

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

Human molecular genetics·2026

Fetal myogenesis chromatin state and CpG from the open alliance markers and their intersection with adult muscle and gastrointestinal genetics.

Human molecular genetics·2026

The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.

Human molecular genetics·2026

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

Human molecular genetics·2026

Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD.

Human molecular genetics·2026

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

Scientific reports·2026

First nationwide full-genome characterisation of human-derived Andes virus in Chile: a retrospective genomic epidemiology study.

The Lancet. Microbe·2026

Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China.

Frontiers in genetics·2026

A Novel <i>FN1</i> Nucleotide Variant c.3051G>C (p.Trp1017Cys) in a Pediatric Patient with Fibronectin Glomerulopathy: Case Report and Literature Review.

Journal of clinical medicine·2026

The Novel HLA-DQA1*01:204 Allele Identified in Asian Female Donor by Next-Generation Sequencing.

HLA·2026

Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos Syndrome.

Molecular syndromology·2026

Related Experiment Videos

A complex dinucleotide repeat polymorphism in the human Na+K+ATPase alpha subunit (ATP1A2) gene

Related Concept Videos

Longitudinal patterns of C-reactive protein values in calcium pyrophosphate deposition disease.

Advancing outcome measure development and analytical approaches: Pain in Animals Workshop 2023.

Outcome assessment in veterinary pain studies: a pain in animals workshop (PAW) perspective.

MIR137 polygenic risk for schizophrenia and ephrin-regulated pathway: Role in lateral ventricles and corpus callosum volume.

In Vivo reflectance confocal microscopy of cutaneous acute graft-versus-host disease: concordance with histopathology and interobserver reproducibility of a glossary with representative images.

Time benefits of 3D planning in orthognathic surgery: a systematic review.

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

Fetal myogenesis chromatin state and CpG from the open alliance markers and their intersection with adult muscle and gastrointestinal genetics.

The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD.

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

First nationwide full-genome characterisation of human-derived Andes virus in Chile: a retrospective genomic epidemiology study.

Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China.

A Novel <i>FN1</i> Nucleotide Variant c.3051G>C (p.Trp1017Cys) in a Pediatric Patient with Fibronectin Glomerulopathy: Case Report and Literature Review.

The Novel HLA-DQA1*01:204 Allele Identified in Asian Female Donor by Next-Generation Sequencing.

Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos Syndrome.

Related Experiment Videos

A complex dinucleotide repeat polymorphism in the human Na+K+ATPase alpha subunit (ATP1A2) gene

Related Concept Videos

Related Articles