An important clinical approach in detecting the fragile X syndrome

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Clinical genetics·2010

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

Clinical genetics·2007

The value of MLPA in Waardenburg syndrome.

Genetic testing·2007

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Prenatal diagnosis·2005

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Clinical genetics·2005

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.

Clinical genetics·2004

The Global Antiscience Infodemic in Public Health: Complex Adaptive Systems and Syndemic Frameworks.

American journal of public health·2026

State Advisory Boards and the Politics of Expertise in US Public Health.

American journal of public health·2026

Lessons Learned During the 2024‒2025 Highly Pathogenic Avian Influenza A(H5N1) Virus Outbreak Response in the United States: The Experience of State and Local Public Health Departments.

American journal of public health·2026

Low Perceived Neighborhood Safety as a Social Determinant of Loneliness: Findings From the 2024 Behavioral Risk Factor Surveillance System.

American journal of public health·2026

Prenatal Care and Congenital Syphilis in the United States: Characterizing Screening and Treatment.

American journal of public health·2026

The Statistical Is, and Always Has Been, Political.

American journal of public health·2026

Development of HPTLC method for simultaneous estimation of Gatifloxacin and Flurbiprofen Sodium using 32 factorial design.

Drug development and industrial pharmacy·2026

Transcranial Magnetic Stimulation Combined With Electroencephalography Analysis Suggest Time-Dependent and Region-Specific Modulation of Cortical Excitability During Acute Alcohol Intoxication.

Alcohol, clinical & experimental research·2026

Intraoperative Rapid On-Site Evaluation (ROSE) vs. Frozen Section in Lung Surgery: A Prospective Study on Diagnostic Speed and Accuracy.

Thoracic cancer·2026

Chlorpyrifos exposure induces inflammatory and immune dysregulation: An integrative in silico and in vitro analysis.

Pesticide biochemistry and physiology·2026

A magnetic copper-based metal-organic gel-derived aerogel for spin-assisted dispersive micro-solid phase extraction of trace organophosphorus pesticide residues in plant-based milk alternatives followed by LC-MS/MS.

Journal of chromatography. A·2026

Dual Functionality in Whole Blood Microsampling: Combining Plasma Separation and Immunoaffinity Cleanup for LC-MS Based Targeted Protein Analysis.

Journal of proteome research·2026

Related Experiment Videos

An important clinical approach in detecting the fragile X syndrome

Related Concept Videos

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

The value of MLPA in Waardenburg syndrome.

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.

The Global Antiscience Infodemic in Public Health: Complex Adaptive Systems and Syndemic Frameworks.

State Advisory Boards and the Politics of Expertise in US Public Health.

Lessons Learned During the 2024‒2025 Highly Pathogenic Avian Influenza A(H5N1) Virus Outbreak Response in the United States: The Experience of State and Local Public Health Departments.

Low Perceived Neighborhood Safety as a Social Determinant of Loneliness: Findings From the 2024 Behavioral Risk Factor Surveillance System.

Prenatal Care and Congenital Syphilis in the United States: Characterizing Screening and Treatment.

The Statistical Is, and Always Has Been, Political.

Development of HPTLC method for simultaneous estimation of Gatifloxacin and Flurbiprofen Sodium using 32 factorial design.

Transcranial Magnetic Stimulation Combined With Electroencephalography Analysis Suggest Time-Dependent and Region-Specific Modulation of Cortical Excitability During Acute Alcohol Intoxication.

Intraoperative Rapid On-Site Evaluation (ROSE) vs. Frozen Section in Lung Surgery: A Prospective Study on Diagnostic Speed and Accuracy.

Chlorpyrifos exposure induces inflammatory and immune dysregulation: An integrative in silico and in vitro analysis.

A magnetic copper-based metal-organic gel-derived aerogel for spin-assisted dispersive micro-solid phase extraction of trace organophosphorus pesticide residues in plant-based milk alternatives followed by LC-MS/MS.

Dual Functionality in Whole Blood Microsampling: Combining Plasma Separation and Immunoaffinity Cleanup for LC-MS Based Targeted Protein Analysis.

Related Experiment Videos

An important clinical approach in detecting the fragile X syndrome

Related Concept Videos

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