t(2q-; Dq+) in a mentally retarded female child

Comprehensive Observations of Magnetospheric Particle Acceleration, Sources, and Sinks (COMPASS): A Mission Concept to Explore the Extremes of Jupiter's Magnetosphere.

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Systematic development and validation of a predictive model for major postoperative complications in the Peri-operative Quality Improvement Project (PQIP) dataset.

Anaesthesia·2024

Development and internal validation of a model for postoperative morbidity in adults undergoing major elective colorectal surgery: the peri-operative quality improvement programme (PQIP) colorectal risk model.

Anaesthesia·2022

Probing the seismic cycle timing with coseismic twisting of subduction margins.

Nature communications·2022

Identification of the functional pathways altered by placental cell exposure to high glucose: lessons from the transcript and metabolite interactome.

Scientific reports·2018

In-season changes in heart rate recovery are inversely related to time to exhaustion but not aerobic capacity in rowers.

Scandinavian journal of medicine & science in sports·2017

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Journal of medical genetics·2026

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Journal of medical genetics·2026

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Journal of medical genetics·2026

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Journal of medical genetics·2026

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Dexmedetomidine Continuous Infusion to Maintain Sedation in Severely Agitated Adolescents in the Emergency Department.

Annals of emergency medicine·2026

Cardiopulmonary exercise testing in children: application and interpretation challenges.

Folia medica·2026

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t(2q-; Dq+) in a mentally retarded female child

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Comprehensive Observations of Magnetospheric Particle Acceleration, Sources, and Sinks (COMPASS): A Mission Concept to Explore the Extremes of Jupiter's Magnetosphere.

Systematic development and validation of a predictive model for major postoperative complications in the Peri-operative Quality Improvement Project (PQIP) dataset.

Development and internal validation of a model for postoperative morbidity in adults undergoing major elective colorectal surgery: the peri-operative quality improvement programme (PQIP) colorectal risk model.

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Identification of the functional pathways altered by placental cell exposure to high glucose: lessons from the transcript and metabolite interactome.

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Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Dexmedetomidine Continuous Infusion to Maintain Sedation in Severely Agitated Adolescents in the Emergency Department.

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t(2q-; Dq+) in a mentally retarded female child

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