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Journal of molecular microbiology and biotechnology·2001

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).

American journal of medical genetics·1998

Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II.

Pediatric radiology·1998

Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.

American journal of medical genetics·1998

Rebound of pediatric idiopathic ileocolic intussusception following the COVID-19 pandemic: a longitudinal follow-up study.

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Feasibility of free-breathing 0.55-T lung MRI for structural and functional characterization in preterm infants with bronchopulmonary dysplasia.

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Discovering interpretable low-dimensional dynamics using maximum entropy.

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Science advances·2026

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Acute pulmonary X-ray changes in hyaline membrane disease treated with artificial ventilation and positive

Related Concept Videos

Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency.

RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.

Characterization of the phosphoenolpyruvate carboxykinase gene from Corynebacterium glutamicum and significance of the enzyme for growth and amino acid production.

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).

Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II.

Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.

Rebound of pediatric idiopathic ileocolic intussusception following the COVID-19 pandemic: a longitudinal follow-up study.

Establishing the reliability of non-contrast 4D flow in congenital heart disease at 1.5T.

Case report: Bilateral infantile acromion fractures in the setting of congenital glenoid dysplasia.

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Acute pulmonary X-ray changes in hyaline membrane disease treated with artificial ventilation and positive...

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Acute pulmonary X-ray changes in hyaline membrane disease treated with artificial ventilation and positive