Lethal neonatal dwarfism: a plea for recognition and diagnosis

Temporary nasal obstruction in an infant of a diabetic mother.

Irish journal of medical science·2016

Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine.

Annals of neurology·2001

Facioscapulohumeral muscular dystrophy.

Current opinion in neurology·1999

Myosin heavy chain composition of single fibres and their origins and distribution in developing fascicles of sheep tibialis cranialis muscles.

Journal of muscle research and cell motility·1992

Neural control of the sequence of expression of myosin heavy chain isoforms in foetal mammalian muscles.

Development (Cambridge, England)·1989

Myonuclear birthdates distinguish the origins of primary and secondary myotubes in embryonic mammalian skeletal muscles.

Development (Cambridge, England)·1989

Gastrointestinal trichobezoars presenting as abdominal pain and obstruction - Rapunzel syndrome.

Irish medical journal·2026

When Sepsis Kills: A Fatal Cascade of Invasive Group A Streptococcal Sepsis.

Irish medical journal·2026

Fulminant Thrombotic Thrombocytopenic Purpura presenting through the FAST Stroke Pathway.

Irish medical journal·2026

Regional Anaesthesia for Tibial Fracture Surgery in the Third Trimester of Pregnancy.

Irish medical journal·2026

A National Experience in Paediatric Achalasia: Symptom Recurrence, Reintervention, and Transition Challenges.

Irish medical journal·2026

Reducing Anaesthesia's Carbon Footprint: A Survey of Awareness and Attitudes.

Irish medical journal·2026

Intracavitary electrocardiography for 1‑Fr epicutaneous‑cava catheter tip location in neonates: 6‑Year retrospective study.

The journal of vascular access·2026

CNN-stylized dual-path CNN-Transformer for fetal head and pubic symphysis segmentation in intrapartum ultrasound.

Frontiers in physiology·2026

Survival and Favorable Neurological Outcome Following Home Delivery at 22 Weeks of Gestation: A Case Report.

Cureus·2026

Diagnosis of Pituitary Stalk Interruption Syndrome in a Newborn Presenting With Recurrent Hypoglycemia: A Rare Case Report.

Cureus·2026

Diagnostic Accuracy of Hepatic Subcapsular Flow on Color Doppler Ultrasonography and Preoperative Liver Biopsy for the Diagnosis of Biliary Atresia in Neonatal Cholestasis: A Pilot Diagnostic Accuracy Study.

Cureus·2026

Age-Adjusted AFP Interpretation in Neonatal Sacrococcygeal Teratoma: Why Adult Reference Ranges May Mislead.

Clinical case reports·2026

Related Experiment Videos

Lethal neonatal dwarfism: a plea for recognition and diagnosis

Related Concept Videos

Temporary nasal obstruction in an infant of a diabetic mother.

Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine.

Facioscapulohumeral muscular dystrophy.

Myosin heavy chain composition of single fibres and their origins and distribution in developing fascicles of sheep tibialis cranialis muscles.

Neural control of the sequence of expression of myosin heavy chain isoforms in foetal mammalian muscles.

Myonuclear birthdates distinguish the origins of primary and secondary myotubes in embryonic mammalian skeletal muscles.

Gastrointestinal trichobezoars presenting as abdominal pain and obstruction - Rapunzel syndrome.

When Sepsis Kills: A Fatal Cascade of Invasive Group A Streptococcal Sepsis.

Fulminant Thrombotic Thrombocytopenic Purpura presenting through the FAST Stroke Pathway.

Regional Anaesthesia for Tibial Fracture Surgery in the Third Trimester of Pregnancy.

A National Experience in Paediatric Achalasia: Symptom Recurrence, Reintervention, and Transition Challenges.

Reducing Anaesthesia's Carbon Footprint: A Survey of Awareness and Attitudes.

Intracavitary electrocardiography for 1‑Fr epicutaneous‑cava catheter tip location in neonates: 6‑Year retrospective study.

CNN-stylized dual-path CNN-Transformer for fetal head and pubic symphysis segmentation in intrapartum ultrasound.

Survival and Favorable Neurological Outcome Following Home Delivery at 22 Weeks of Gestation: A Case Report.

Diagnosis of Pituitary Stalk Interruption Syndrome in a Newborn Presenting With Recurrent Hypoglycemia: A Rare Case Report.

Diagnostic Accuracy of Hepatic Subcapsular Flow on Color Doppler Ultrasonography and Preoperative Liver Biopsy for the Diagnosis of Biliary Atresia in Neonatal Cholestasis: A Pilot Diagnostic Accuracy Study.

Age-Adjusted AFP Interpretation in Neonatal Sacrococcygeal Teratoma: Why Adult Reference Ranges May Mislead.

Related Experiment Videos

Lethal neonatal dwarfism: a plea for recognition and diagnosis

Related Concept Videos

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