The FRAXE Syndrome: is it time for routine screening?

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

Upregulation of Ras/Raf/ERK1/2 signaling and ERK5 in the brain of autistic subjects.

Genes, brain, and behavior·2011

Anthropometric and cardio-metabolic trait variation and genetic associations in sub-Saharan Africa.

American journal of human genetics·2026

Systematic and proactive evaluation of AIRE missense variant effects.

American journal of human genetics·2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

American journal of human genetics·2026

Cell villages and Dirichlet modeling map human cell fitness genetics.

American journal of human genetics·2026

Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs.

American journal of human genetics·2026

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

American journal of human genetics·2026

A Qualitative Co-Production Study of a Solutions-Focused Approach to Understanding the Barriers and Facilitators to Engagement of Male Suicidal Prisoners in Psychological Therapy for Suicide Prevention.

Health expectations : an international journal of public participation in health care and health policy·2026

Desired Nonmedical Gender-Affirming Support During Adolescence Among Transgender and Nonbinary Young Adults.

Transgender health·2026

Identifying sexual health concerns, risk-taking and violence using the newly developed SEXIT Adult tool in a Swedish public outpatient sample.

BMC public health·2026

Evaluating psychotherapies for veterans with PTSD at elevated acute risk of suicide: Protocol for a multi-site type 1 hybrid effectiveness-implementation trial.

Contemporary clinical trials·2026

Acculturative Stress as a Moderator of Treatment Engagement and Retention in Behavioral Activation and Treatment as Usual for Latinos With Depression.

Journal of Latina/o psychology·2026

Technology Matters: Integrating digital treatments for children and young people with anxiety disorders into routine care.

Child and adolescent mental health·2026

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The FRAXE Syndrome: is it time for routine screening?

Related Concept Videos

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.

Upregulation of Ras/Raf/ERK1/2 signaling and ERK5 in the brain of autistic subjects.

Anthropometric and cardio-metabolic trait variation and genetic associations in sub-Saharan Africa.

Systematic and proactive evaluation of AIRE missense variant effects.

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Cell villages and Dirichlet modeling map human cell fitness genetics.

Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs.

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

A Qualitative Co-Production Study of a Solutions-Focused Approach to Understanding the Barriers and Facilitators to Engagement of Male Suicidal Prisoners in Psychological Therapy for Suicide Prevention.

Desired Nonmedical Gender-Affirming Support During Adolescence Among Transgender and Nonbinary Young Adults.

Identifying sexual health concerns, risk-taking and violence using the newly developed SEXIT Adult tool in a Swedish public outpatient sample.

Evaluating psychotherapies for veterans with PTSD at elevated acute risk of suicide: Protocol for a multi-site type 1 hybrid effectiveness-implementation trial.

Acculturative Stress as a Moderator of Treatment Engagement and Retention in Behavioral Activation and Treatment as Usual for Latinos With Depression.

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Related Experiment Videos

The FRAXE Syndrome: is it time for routine screening?

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