Threatened survival of academic-based genetic laboratory services

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

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

American journal of human genetics·2026

Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders.

American journal of human genetics·2026

Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations.

American journal of human genetics·2026

Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness.

American journal of human genetics·2026

A phenotypic paradigm for cerebral palsy genetics.

American journal of human genetics·2026

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.

American journal of human genetics·2026

Screen time and cardiorespiratory fitness in school-aged children: a sex-specific association independent of physical activity-evidence from Croatia.

Frontiers in public health·2026

Neurofunctional gradients and molecular signatures underlying problematic smartphone use: A connectomic, psychological, and transcriptomic study.

Progress in neuro-psychopharmacology & biological psychiatry·2026

Exploring the Comorbidity Mechanism of Internet Addiction, Insomnia, Depression, and Suicidality Among Chinese College Students Through Network Analysis.

Alpha psychiatry·2026

Impact of Tight Collars and Neckties on Cervical Dysfunction Among Corporate Workers.

Cureus·2026

Supporting continuous glucose monitoring for people with serious mental illness and type 2 diabetes: a co-design study for a structured intervention.

Frontiers in health services·2026

Social anxiety mismatch is associated with reduced inter-brain synchrony and altered neural coordination dynamics during social interaction: An fNIRS hyperscanning study.

Journal of affective disorders·2026

Related Experiment Videos

Threatened survival of academic-based genetic laboratory services

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.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders.

Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations.

Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness.

A phenotypic paradigm for cerebral palsy genetics.

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.

Screen time and cardiorespiratory fitness in school-aged children: a sex-specific association independent of physical activity-evidence from Croatia.

Neurofunctional gradients and molecular signatures underlying problematic smartphone use: A connectomic, psychological, and transcriptomic study.

Exploring the Comorbidity Mechanism of Internet Addiction, Insomnia, Depression, and Suicidality Among Chinese College Students Through Network Analysis.

Impact of Tight Collars and Neckties on Cervical Dysfunction Among Corporate Workers.

Supporting continuous glucose monitoring for people with serious mental illness and type 2 diabetes: a co-design study for a structured intervention.

Social anxiety mismatch is associated with reduced inter-brain synchrony and altered neural coordination dynamics during social interaction: An fNIRS hyperscanning study.

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Threatened survival of academic-based genetic laboratory services

Related Concept Videos

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