Prenatal diagnosis of Menkes disease

Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.

Clinical genetics·2017

A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.

Clinical genetics·2017

A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.

Clinical genetics·2016

Recent Advances in Imprinting Disorders.

Clinical genetics·2016

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

Clinical genetics·2016

Cornelia de Lange syndrome.

Clinical genetics·2014

Beyond the Negative: Insights From Postnatal Medical Genetics Follow-Up After Nondiagnostic Prenatal Exome Sequencing.

Prenatal diagnosis·2026

Fetal Brain Abnormalities in Trisomy 21 and Associated Neurodevelopmental Outcome: Key Factors to Identify Differences in Neurodevelopmental Outcome?

Prenatal diagnosis·2026

Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal Cases.

Prenatal diagnosis·2026

Rare Autosomal Trisomies Detected by Noninvasive Prenatal Testing: Performance, Outcomes, and Exploratory Analysis of the Theoretical Mosaicism Ratio.

Prenatal diagnosis·2026

Multicentric Longitudinal Performance Monitoring of Different Prenatal Cell-Free DNA Screening Technologies in Belgium.

Prenatal diagnosis·2026

Maternal Sirolimus Therapy for Fetal Extensive Lymphatic Cystic Malformation: Selection Criteria, Management, and Outcomes in a Series of Six Cases.

Prenatal diagnosis·2026

A universally conserved OMV-YidR conjugate nanovaccine confers broad protection against hypervirulent and carbapenem-resistant Klebsiella pneumoniae.

Emerging microbes & infections·2026

N-Myristoylation: A Central Hub Integrating Tumor Signaling, Metabolism, and Immunity for Precision Therapy.

Medicinal research reviews·2026

Unlocking the hidden DNAzyme repertoire through aptamer-gated exonuclease signal amplification.

Chemical communications (Cambridge, England)·2026

Intranasal administration of spike-specific mRNA-LNP confers more protection than the intramuscular route against SARS-CoV-2.

Iranian journal of basic medical sciences·2026

Evaluation of Posttreatment Eradication Testing Following Helicobacter pylori Therapy.

The Permanente journal·2026

Bridging the Gap: How technology and AI are making clinical trial participation accessible and practical for community physicians.

Journal of the National Medical Association·2026

Related Experiment Videos

Prenatal diagnosis of Menkes disease

Related Concept Videos

Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.

A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.

A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.

Recent Advances in Imprinting Disorders.

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

Cornelia de Lange syndrome.

Beyond the Negative: Insights From Postnatal Medical Genetics Follow-Up After Nondiagnostic Prenatal Exome Sequencing.

Fetal Brain Abnormalities in Trisomy 21 and Associated Neurodevelopmental Outcome: Key Factors to Identify Differences in Neurodevelopmental Outcome?

Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal Cases.

Rare Autosomal Trisomies Detected by Noninvasive Prenatal Testing: Performance, Outcomes, and Exploratory Analysis of the Theoretical Mosaicism Ratio.

Multicentric Longitudinal Performance Monitoring of Different Prenatal Cell-Free DNA Screening Technologies in Belgium.

Maternal Sirolimus Therapy for Fetal Extensive Lymphatic Cystic Malformation: Selection Criteria, Management, and Outcomes in a Series of Six Cases.

A universally conserved OMV-YidR conjugate nanovaccine confers broad protection against hypervirulent and carbapenem-resistant Klebsiella pneumoniae.

N-Myristoylation: A Central Hub Integrating Tumor Signaling, Metabolism, and Immunity for Precision Therapy.

Unlocking the hidden DNAzyme repertoire through aptamer-gated exonuclease signal amplification.

Intranasal administration of spike-specific mRNA-LNP confers more protection than the intramuscular route against SARS-CoV-2.

Evaluation of Posttreatment Eradication Testing Following Helicobacter pylori Therapy.

Bridging the Gap: How technology and AI are making clinical trial participation accessible and practical for community physicians.

Related Experiment Videos

Prenatal diagnosis of Menkes disease

Related Concept Videos

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