Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis

[Efficacy of maintenance therapy with or without pembrolizumab in patients with advanced gastric cancer after first-line chemotherapy].

Zhonghua yi xue za zhi·2026

[Analysis of risk factors for recurrence after radical resection in colon cancer patients with retroperitoneal lymph node metastasis].

Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery·2026

Does the type of anaesthesia influence the outcome of percutaneous nephrolithotomy? Outcomes from a meta- analysis of randomized controlled trials.

Actas urologicas espanolas·2025

Use of birth weight as a predictor of genetic merit of subsequent growth traits in Duroc and Landrace pigs.

Animal : an international journal of animal bioscience·2024

[Effect of methylene blue labeling on therapeutic effect and prognosis of gastric cancer patients in D2 radical gastrectomy under laparoscope].

Zhonghua yi xue za zhi·2023

Endocrine system involvement in patients with RASopathies: A case series.

Frontiers in endocrinology·2022

Xeroderma Pigmentosum Monozygotic Twins: Same Mutation Divergent Clinical Outcomes.

Human mutation·2026

X;7 Translocation at p21.1 and q31.31 Disrupting DMD: A Multiomics Study of a Male Dystrophinopathy Case.

Human mutation·2026

A Regulator SNP Affecting the Transcription Factor SP1 Binding Site in the PIK3R3 Gene Contributes to Noise-Induced Hearing Loss Risk.

Human mutation·2026

Functional Characterization and Genotype-Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity Syndrome.

Human mutation·2026

Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With PRRT2 Mutations.

Human mutation·2026

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings.

Human mutation·2026

Osteogenic Potential of Bone Callus: A Cross-sectional Study on Microscopic Structure and Healing Stages.

Journal of orthopaedic case reports·2026

Sublingual microcirculation-derived glycocalyx barrier impairment independently predicts progression of asymptomatic left ventricular diastolic dysfunction in elderly Chinese adults.

Frontiers in cardiovascular medicine·2026

Is Photoelectron Circular Dichroism Sensitive to Helical Chirality? The Paradigm of Gas-Phase Carbo[6]Helicene.

Angewandte Chemie (International ed. in English)·2026

Elevated Blood Pressure Is Causally Associated With Larger Subcortical Gray Matter Structure Through Perivascular Clearance Routes.

Journal of evidence-based medicine·2026

Morphology-dependent creep and chemo-mechanical degradation in non-equilibrium CoNi-based superalloys.

Materials horizons·2026

Crb2-dependent progenitor adhesion safeguards ventricular lining integrity and prevents hydrocephalus.

Research square·2026

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Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis

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[Efficacy of maintenance therapy with or without pembrolizumab in patients with advanced gastric cancer after first-line chemotherapy].

[Analysis of risk factors for recurrence after radical resection in colon cancer patients with retroperitoneal lymph node metastasis].

Does the type of anaesthesia influence the outcome of percutaneous nephrolithotomy? Outcomes from a meta- analysis of randomized controlled trials.

Use of birth weight as a predictor of genetic merit of subsequent growth traits in Duroc and Landrace pigs.

[Effect of methylene blue labeling on therapeutic effect and prognosis of gastric cancer patients in D2 radical gastrectomy under laparoscope].

Endocrine system involvement in patients with RASopathies: A case series.

Xeroderma Pigmentosum Monozygotic Twins: Same Mutation Divergent Clinical Outcomes.

X;7 Translocation at p21.1 and q31.31 Disrupting DMD: A Multiomics Study of a Male Dystrophinopathy Case.

A Regulator SNP Affecting the Transcription Factor SP1 Binding Site in the PIK3R3 Gene Contributes to Noise-Induced Hearing Loss Risk.

Functional Characterization and Genotype-Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity Syndrome.

Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With PRRT2 Mutations.

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings.

Osteogenic Potential of Bone Callus: A Cross-sectional Study on Microscopic Structure and Healing Stages.

Sublingual microcirculation-derived glycocalyx barrier impairment independently predicts progression of asymptomatic left ventricular diastolic dysfunction in elderly Chinese adults.

Is Photoelectron Circular Dichroism Sensitive to Helical Chirality? The Paradigm of Gas-Phase Carbo[6]Helicene.

Elevated Blood Pressure Is Causally Associated With Larger Subcortical Gray Matter Structure Through Perivascular Clearance Routes.

Morphology-dependent creep and chemo-mechanical degradation in non-equilibrium CoNi-based superalloys.

Crb2-dependent progenitor adhesion safeguards ventricular lining integrity and prevents hydrocephalus.

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Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis

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