[Rett syndrome--from a healthy infant to a disabled woman]

A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype.

American journal of medical genetics. Part A·2024

Polyglucosan myopathy and functional characterization of a novel GYG1 mutation.

Acta neurologica Scandinavica·2017

Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1.

European journal of neurology·2017

Myopathology in the times of modern genetics.

Neuropathology and applied neurobiology·2016

Search for Pompe disease among patients with undetermined myopathies.

Acta neurologica Scandinavica·2015

Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations.

Neuromuscular disorders : NMD·2014

[Upper tract urothelial carcinoma - regional differences observed in several quality indicators].

Lakartidningen·2026

[Rare manifestations of giant cell arteritis].

Lakartidningen·2026

[Neoehrlichiosis in rituximab-treated patients with MS in Sweden].

Lakartidningen·2026

[The Swedish Neonatal Quality Register (SNQ) - a complete register for a complex chain of events].

Lakartidningen·2026

[Postoperative atrial fibrillation after open heart surgery].

Lakartidningen·2026

[Interaction between psychotic patients and AI-driven chatbots].

Lakartidningen·2026

The Predictive Accuracy of Prenatal Ultrasound for Macrosomia-A Retrospective Cohort Study.

Journal of clinical ultrasound : JCU·2026

Amniotic fluid index versus maximum vertical pocket for predicting adverse perinatal outcomes in singleton term pregnancies: A retrospective cohort study.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics·2026

The relationship between prolonged travel and mortality among women with complicated deliveries in rural Kenya.

Journal of global health·2026

Identifying socioeconomic characteristics of pregnant women aged 15-50 years diagnosed with HIV during pregnancy, the Netherlands, 2016 to 2023.

Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin·2026

Maternal smoking during pregnancy in relation to adolescent anxiety and poor mental health: A cross-sectional study based on NHANES 2007-2012.

Tobacco induced diseases·2026

Effect of Prenatal Intervention on Dental Caries and Risk Factors in Children with Unilateral Cleft Lip and/or Palate in Medellín, Colombia: A Nonrandomized Controlled Clinical Trial.

International journal of clinical pediatric dentistry·2026

Related Experiment Videos

[Rett syndrome--from a healthy infant to a disabled woman]

Related Concept Videos

A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype.

Polyglucosan myopathy and functional characterization of a novel GYG1 mutation.

Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1.

Myopathology in the times of modern genetics.

Search for Pompe disease among patients with undetermined myopathies.

Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations.

[Upper tract urothelial carcinoma - regional differences observed in several quality indicators].

[Rare manifestations of giant cell arteritis].

[Neoehrlichiosis in rituximab-treated patients with MS in Sweden].

[The Swedish Neonatal Quality Register (SNQ) - a complete register for a complex chain of events].

[Postoperative atrial fibrillation after open heart surgery].

[Interaction between psychotic patients and AI-driven chatbots].

The Predictive Accuracy of Prenatal Ultrasound for Macrosomia-A Retrospective Cohort Study.

Amniotic fluid index versus maximum vertical pocket for predicting adverse perinatal outcomes in singleton term pregnancies: A retrospective cohort study.

The relationship between prolonged travel and mortality among women with complicated deliveries in rural Kenya.

Identifying socioeconomic characteristics of pregnant women aged 15-50 years diagnosed with HIV during pregnancy, the Netherlands, 2016 to 2023.

Maternal smoking during pregnancy in relation to adolescent anxiety and poor mental health: A cross-sectional study based on NHANES 2007-2012.

Effect of Prenatal Intervention on Dental Caries and Risk Factors in Children with Unilateral Cleft Lip and/or Palate in Medellín, Colombia: A Nonrandomized Controlled Clinical Trial.

Related Experiment Videos

[Rett syndrome--from a healthy infant to a disabled woman]

Related Concept Videos

Related Articles