Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

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

American journal of medical genetics. Part A·2004

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

Clinical genetics·2002

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

Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".

American journal of medical genetics·1998

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

American journal of medical genetics·1998

Quantifying human variability in pediatric bone age assessment: a multi-institutional multi-reader study and benchmark for AI evaluation.

Pediatric radiology·2026

Completely free-breathing cardiac MRI using deep learning reconstruction reduces sedation and scan time in children.

Pediatric radiology·2026

The ischium as a key anatomical landmark in the classification of persistent urogenital sinus anomalies.

Pediatric radiology·2026

Skeletal dysplasias of the parathyroid hormone signaling cascade: radiological manifestations and molecular mechanisms.

Pediatric radiology·2026

Performance of International Ovarian Tumor Analysis Simple Rules and Ovarian-Adnexal Reporting and Data System for classifying benign and malignant pediatric adnexal lesions using ultrasound.

Pediatric radiology·2026

Ultrasound evaluation of the upper airway in children: technique and applications.

Pediatric radiology·2026

450-nm blue laser vaporizationversustransurethral resection of the prostate for benign prostatic hyperplasia: a retrospective comparative study.

The Canadian journal of urology·2026

Safety and outcomes of salvage HoLEP after TURP: a comparative study.

The Canadian journal of urology·2026

Association Between Individualized Intracranial Pressure Thresholds and Long-Term Outcomes in Moderate-to-Severe TBI: A CAHR-TBI Multicenter Study.

Journal of neurotrauma·2026

Transporter-Drive Interstitial Tissue Exposure and Pharmacodynamic Response of Meropenem in Sepsis: A Mechanistic PBPK Modeling Study.

CPT: pharmacometrics & systems pharmacology·2026

The Immediate, Short-Term and Long-Term Effects of Photobiomodulation on Chronic Post-Surgical Pain After Tympanomastoidectomy Surgery.

Journal of lasers in medical sciences·2026

Weighted Blankets to Reduce Anxiety in Hospitalized Patients.

American journal of critical care : an official publication, American Association of Critical-Care Nurses·2026

Related Experiment Videos

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

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.

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.

Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".

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

Quantifying human variability in pediatric bone age assessment: a multi-institutional multi-reader study and benchmark for AI evaluation.

Completely free-breathing cardiac MRI using deep learning reconstruction reduces sedation and scan time in children.

The ischium as a key anatomical landmark in the classification of persistent urogenital sinus anomalies.

Skeletal dysplasias of the parathyroid hormone signaling cascade: radiological manifestations and molecular mechanisms.

Performance of International Ovarian Tumor Analysis Simple Rules and Ovarian-Adnexal Reporting and Data System for classifying benign and malignant pediatric adnexal lesions using ultrasound.

Ultrasound evaluation of the upper airway in children: technique and applications.

450-nm blue laser vaporizationversustransurethral resection of the prostate for benign prostatic hyperplasia: a retrospective comparative study.

Safety and outcomes of salvage HoLEP after TURP: a comparative study.

Association Between Individualized Intracranial Pressure Thresholds and Long-Term Outcomes in Moderate-to-Severe TBI: A CAHR-TBI Multicenter Study.

Transporter-Drive Interstitial Tissue Exposure and Pharmacodynamic Response of Meropenem in Sepsis: A Mechanistic PBPK Modeling Study.

The Immediate, Short-Term and Long-Term Effects of Photobiomodulation on Chronic Post-Surgical Pain After Tympanomastoidectomy Surgery.

Weighted Blankets to Reduce Anxiety in Hospitalized Patients.

Related Experiment Videos

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

Related Concept Videos

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