MECP2 mutations in Swedish Rett syndrome clusters

[Reasons for surgical reintervention and its prognosis after prosthesis valve replacement].

Zhonghua wai ke za zhi [Chinese journal of surgery]·2026

[Clinical application of extracorporeal membrane oxygenation in the treatment of burn patients with acute respiratory distress syndrome: a retrospective analysis and systematic review].

Zhonghua shao shang za zhi = Zhonghua shaoshang zazhi = Chinese journal of burns·2021

[Clinical outcomes of radial artery as the second arterial conduit in coronary artery bypass].

Zhonghua wai ke za zhi [Chinese journal of surgery]·2021

[Influencing factors and their predictive value of skin graft survival after Meek grafting in severe burn patients].

Zhonghua shao shang za zhi = Zhonghua shaoshang zazhi = Chinese journal of burns·2021

[Effects and mechanism of mitochondrial transcription factor A and cytochrome c oxidase pathway in the energy production of hypoxic cardiomyocytes of rats regulated by tumor necrosis factor receptor associated protein 1].

Zhonghua shao shang za zhi = Zhonghua shaoshang zazhi = Chinese journal of burns·2020

[Recommendations for normalizing the medical practices of burn treatment during the outbreak of coronavirus disease 2019].

Zhonghua shao shang za zhi = Zhonghua shaoshang zazhi = Chinese journal of burns·2020

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita.

Clinical genetics·2026

Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.

Clinical genetics·2026

Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights.

Clinical genetics·2026

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.

Clinical genetics·2026

Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian Patients.

Clinical genetics·2026

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

Clinical genetics·2026

A generalized test of genotype-phenotype causality in population-sampled nuclear families.

PLoS genetics·2026

Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease Carriers.

Neurology. Genetics·2026

Low-Coverage Whole-Genome Sequencing Identifies Loci Associated with Birth Weight in East Friesian × Hu Crossbred Sheep.

Animals : an open access journal from MDPI·2026

Integrative MRI and Genomics Analyses Prioritize <i>PACSIN1</i> as a Candidate Gene for Cerebellar Ataxia in Border Collies.

Animals : an open access journal from MDPI·2026

Bayesian Population-Based Prevalence Estimation of <i>KCNV2</i>-Associated Retinopathy: A Comparative Analysis of Disease-Associated Variant Frequencies in Russian and Global Populations.

International journal of molecular sciences·2026

Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder.

Molecular psychiatry·2026

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MECP2 mutations in Swedish Rett syndrome clusters

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[Reasons for surgical reintervention and its prognosis after prosthesis valve replacement].

[Clinical application of extracorporeal membrane oxygenation in the treatment of burn patients with acute respiratory distress syndrome: a retrospective analysis and systematic review].

[Clinical outcomes of radial artery as the second arterial conduit in coronary artery bypass].

[Influencing factors and their predictive value of skin graft survival after Meek grafting in severe burn patients].

[Effects and mechanism of mitochondrial transcription factor A and cytochrome c oxidase pathway in the energy production of hypoxic cardiomyocytes of rats regulated by tumor necrosis factor receptor associated protein 1].

[Recommendations for normalizing the medical practices of burn treatment during the outbreak of coronavirus disease 2019].

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita.

Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.

Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights.

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.

Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian Patients.

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

A generalized test of genotype-phenotype causality in population-sampled nuclear families.

Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease Carriers.

Low-Coverage Whole-Genome Sequencing Identifies Loci Associated with Birth Weight in East Friesian × Hu Crossbred Sheep.

Integrative MRI and Genomics Analyses Prioritize <i>PACSIN1</i> as a Candidate Gene for Cerebellar Ataxia in Border Collies.

Bayesian Population-Based Prevalence Estimation of <i>KCNV2</i>-Associated Retinopathy: A Comparative Analysis of Disease-Associated Variant Frequencies in Russian and Global Populations.

Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder.

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MECP2 mutations in Swedish Rett syndrome clusters

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