Screening for fragile X syndrome by testicular size measurement

An improved method for detecting telomere size differences in T-lymphocyte interphases from older people with Down syndrome with and without mild cognitive impairment.

Biology methods & protocols·2020

Genome-wide differential expression of synaptic long noncoding RNAs in autism spectrum disorder.

Translational psychiatry·2015

Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors.

Journal of genetic counseling·2013

Alterations in mitochondrial DNA copy number and the activities of electron transport chain complexes and pyruvate dehydrogenase in the frontal cortex from subjects with autism.

Translational psychiatry·2013

Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate.

JIMD reports·2013

Quantitative 3D evaluation of step ascent and descent in individuals with Down syndrome--analysis of a daily challenging task.

Journal of intellectual disability research : JIDR·2012

Wildfire smoke and health: current evidence, mechanisms, and future challenges.

Lancet (London, England)·2026

Use of the bacterial lysate OM-85 for the primary prevention of wheezing lower respiratory illness in preschool children: a randomised, placebo-controlled trial.

Lancet (London, England)·2026

Wealth redistribution policies to mitigate the impact of development assistance defunding: a retrospective evaluation and forecasting analysis up to 2030.

Lancet (London, England)·2026

Induction and consolidation atezolizumab with stereotactic body radiation therapy versus radiation alone in high-risk, early-stage non-small-cell lung cancer (SWOG/NRG S1914): a multicentre, open-label, superiority, phase 3, randomised controlled trial.

Lancet (London, England)·2026

The changing therapeutic landscape of small-cell lung cancer.

Lancet (London, England)·2026

Natural history and clinical impact of epilepsy in adults with Down syndrome: a multicentre clinical study.

Lancet (London, England)·2026

Widespread male-female expression imbalance of X-linked genes across phrynosomatid lizards.

Molecular biology and evolution·2026

Multimodal quantitative MRI finds early brain changes in asymptomatic X-linked adrenoleukodystrophy.

Brain communications·2026

Disrupting peripheral serotonin synthesis drives sex-specific alterations in sociability and cognition, and reshapes the gut-immune-brain axis.

Brain, behavior, and immunity·2026

Fatal ascending aortic dissection in a 12-year-old boy with previously undiagnosed Loeys-Dietz syndrome: A molecular autopsy case.

Legal medicine (Tokyo, Japan)·2026

LINE-1 repeats are a defining feature of the Xce.

Proceedings of the National Academy of Sciences of the United States of America·2026

A familial case of FLAD1 protein deficiency associated with impaired adrenal steroidogenesis.

JCI insight·2026

Related Experiment Videos

Screening for fragile X syndrome by testicular size measurement

Related Concept Videos

An improved method for detecting telomere size differences in T-lymphocyte interphases from older people with Down syndrome with and without mild cognitive impairment.

Genome-wide differential expression of synaptic long noncoding RNAs in autism spectrum disorder.

Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors.

Alterations in mitochondrial DNA copy number and the activities of electron transport chain complexes and pyruvate dehydrogenase in the frontal cortex from subjects with autism.

Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate.

Quantitative 3D evaluation of step ascent and descent in individuals with Down syndrome--analysis of a daily challenging task.

Wildfire smoke and health: current evidence, mechanisms, and future challenges.

Use of the bacterial lysate OM-85 for the primary prevention of wheezing lower respiratory illness in preschool children: a randomised, placebo-controlled trial.

Wealth redistribution policies to mitigate the impact of development assistance defunding: a retrospective evaluation and forecasting analysis up to 2030.

Induction and consolidation atezolizumab with stereotactic body radiation therapy versus radiation alone in high-risk, early-stage non-small-cell lung cancer (SWOG/NRG S1914): a multicentre, open-label, superiority, phase 3, randomised controlled trial.

The changing therapeutic landscape of small-cell lung cancer.

Natural history and clinical impact of epilepsy in adults with Down syndrome: a multicentre clinical study.

Widespread male-female expression imbalance of X-linked genes across phrynosomatid lizards.

Multimodal quantitative MRI finds early brain changes in asymptomatic X-linked adrenoleukodystrophy.

Disrupting peripheral serotonin synthesis drives sex-specific alterations in sociability and cognition, and reshapes the gut-immune-brain axis.

Fatal ascending aortic dissection in a 12-year-old boy with previously undiagnosed Loeys-Dietz syndrome: A molecular autopsy case.

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Screening for fragile X syndrome by testicular size measurement

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