A new form of infantile spinal muscular atrophy

Ten years since the introduction of therapeutic hypothermia in neonates with perinatal hypoxic-ischaemic encephalopathy in Spain.

Neurologia·2022

Bedside and laboratory neuromonitoring in neonatal encephalopathy.

Seminars in fetal & neonatal medicine·2021

Incidence of contrast-induced nephropathy after a computed tomography scan.

Radiologia·2021

Palliative gastrojejunostomy in unresectable cancer and gastric outlet obstruction: a retrospective cohort study.

Annals of the Royal College of Surgeons of England·2021

Ten years since the introduction of therapeutic hypothermia in neonates with perinatal hypoxic-ischaemic encephalopathy in Spain.

Neurologia·2020

Prophylaxis with rivaroxaban after laparoscopic sleeve gastrectomy could reduce the frequency of portomesenteric venous thrombosis.

Annals of the Royal College of Surgeons of England·2020

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Journal of medical genetics·2026

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Journal of medical genetics·2026

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Journal of medical genetics·2026

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Journal of medical genetics·2026

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

Hepatic Steatosis Complicating Pediatric Idiopathic Nephrotic Syndrome During Systemic Corticosteroid Therapy: A Case Report.

Cureus·2026

Umbilical artery bypass for surgical treatment of femoral artery stenosis in a newborn: A case report.

Journal of vascular surgery cases and innovative techniques·2026

Association between 24-hour urine output during early non-invasive ventilation and short-term adverse outcomes in late preterm infants: a retrospective cohort study.

Translational pediatrics·2026

Development and validation of a risk prediction model for respiratory tract Ureaplasma urealyticum infection in preterm infants.

Translational pediatrics·2026

Ultrasound-based nomogram for predicting high-risk hepatic portal venous gas in children: a retrospective cohort study.

Translational pediatrics·2026

Construction of a prediction model for retinopathy of prematurity based on placenta-derived genes and clinical variables.

Translational pediatrics·2026

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A new form of infantile spinal muscular atrophy

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Ten years since the introduction of therapeutic hypothermia in neonates with perinatal hypoxic-ischaemic encephalopathy in Spain.

Bedside and laboratory neuromonitoring in neonatal encephalopathy.

Incidence of contrast-induced nephropathy after a computed tomography scan.

Palliative gastrojejunostomy in unresectable cancer and gastric outlet obstruction: a retrospective cohort study.

Ten years since the introduction of therapeutic hypothermia in neonates with perinatal hypoxic-ischaemic encephalopathy in Spain.

Prophylaxis with rivaroxaban after laparoscopic sleeve gastrectomy could reduce the frequency of portomesenteric venous thrombosis.

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

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

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

Hepatic Steatosis Complicating Pediatric Idiopathic Nephrotic Syndrome During Systemic Corticosteroid Therapy: A Case Report.

Umbilical artery bypass for surgical treatment of femoral artery stenosis in a newborn: A case report.

Association between 24-hour urine output during early non-invasive ventilation and short-term adverse outcomes in late preterm infants: a retrospective cohort study.

Development and validation of a risk prediction model for respiratory tract Ureaplasma urealyticum infection in preterm infants.

Ultrasound-based nomogram for predicting high-risk hepatic portal venous gas in children: a retrospective cohort study.

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A new form of infantile spinal muscular atrophy

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