Edward Neuhauser memorial lecture. Genetic bone disease: radiologic sight and insight

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

Electricity Grid Carbon Intensity-Not Imaging Utilization-as the Primary Source of Variation in Greenhouse Gas Emissions for MRI and CT.

AJR. American journal of roentgenology·2026

Photon-Counting CT With Low-keV Virtual Monoenergetic Images for Detecting Muscle Invasion in Bladder Cancer: A Prospective Study.

AJR. American journal of roentgenology·2026

Predicting 5-Year Breast Cancer Risk From Longitudinal Digital Breast Tomosynthesis: A Single-Center Retrospective Study.

AJR. American journal of roentgenology·2026

Missed Pulmonary Nodules on CT: Determinants and Implications for Radiologic Practice.

AJR. American journal of roentgenology·2026

[Autism - Phenotypic variability].

Medicina·2026

Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier.

Neurogenetics·2026

A Novel Mutation in ACTG1 as the Probable Cause of Nonsyndromic Hearing Loss in Chinese Han Population.

Neural plasticity·2026

Rare missense variants in NECTIN1 alter local protein structure and may contribute to non-syndromic cleft lip with or without palate.

Frontiers in genetics·2026

Two Novel Compound Heterozygous CDH23 Mutations Underlying Non-Syndromic Hearing Loss.

International journal of general medicine·2026

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.

Molecular genetics & genomic medicine·2026

Related Experiment Videos

Edward Neuhauser memorial lecture. Genetic bone disease: radiologic sight and insight

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.

Electricity Grid Carbon Intensity-Not Imaging Utilization-as the Primary Source of Variation in Greenhouse Gas Emissions for MRI and CT.

Photon-Counting CT With Low-keV Virtual Monoenergetic Images for Detecting Muscle Invasion in Bladder Cancer: A Prospective Study.

Predicting 5-Year Breast Cancer Risk From Longitudinal Digital Breast Tomosynthesis: A Single-Center Retrospective Study.

Missed Pulmonary Nodules on CT: Determinants and Implications for Radiologic Practice.

[Autism - Phenotypic variability].

Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier.

A Novel Mutation in ACTG1 as the Probable Cause of Nonsyndromic Hearing Loss in Chinese Han Population.

Rare missense variants in NECTIN1 alter local protein structure and may contribute to non-syndromic cleft lip with or without palate.

Two Novel Compound Heterozygous CDH23 Mutations Underlying Non-Syndromic Hearing Loss.

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.

Related Experiment Videos

Edward Neuhauser memorial lecture. Genetic bone disease: radiologic sight and insight

Related Concept Videos

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