Osteopathia striata with sclerosis and thickening of the skull

Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13.

American journal of medical genetics. Part A·2006

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.

Journal of medical genetics·2005

Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays.

Journal of medical genetics·2003

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.

American journal of medical genetics·2002

Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH.

Human genetics·2001

Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype.

Human genetics·2000

Three layers and two revelations: A multidisciplinary framework for curating real-world data from electronic patient records reveals a decade of breast screening performance.

The British journal of radiology·2026

Incidental Pulmonary Embolism Detection on Routine Contrast-Enhanced CT before and after Deployment of a Commercial AI Tool: A Real-World Evaluation.

The British journal of radiology·2026

Dosimetric comparison of automated noncoplanar volumetric-modulated arc therapy and intensity-modulated proton therapy for total scalp irradiation in angiosarcoma of the scalp.

The British journal of radiology·2026

Coronary atherosclerosis, myocardial perfusion, and interstitial fibrosis between diabetic and nondiabetic patients with stable chest pain: a propensity score matching study.

The British journal of radiology·2026

Sex differences in cardiac function and remodelling in patients with preserved left ventricular ejection fraction across all stages of chronic kidney disease.

The British journal of radiology·2026

Comparison of age-specific T1 and T2 values and evaluation of the utility of age-specific cutoff values for triangular fibrocartilage complex injuries.

The British journal of radiology·2026

Clinical Surrogate Endpoints in Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Findings From a Two-Year Natural History Study.

Investigative ophthalmology & visual science·2026

Patient-Reported Quality of Life and Treatment Experiences Among Patients with Neovascular Age-Related Macular Degeneration Receiving Intravitreal Aflibercept in Colombia: A Qualitative Study.

Clinical ophthalmology (Auckland, N.Z.)·2026

Patterns and Causes of Adult Blindness in a Tertiary Ophthalmic Center in Somalia: The Burden of Trauma-Related Visual Loss.

Clinical ophthalmology (Auckland, N.Z.)·2026

Lateral Semicircular Canal Occlusion in Patients with Refractory Meniere's Disease.

The journal of international advanced otology·2026

Quality of life and its determinants among glaucoma patients attending Berhan Aini Ophthalmic National Referral Hospital: A cross-sectional study.

Therapeutic advances in ophthalmology·2026

Long-Term Visual Field Outcomes after failed trabeculectomy: Same site Trabeculectomy versus Ahmed Glaucoma Valve Implantation.

American journal of ophthalmology·2026

Related Experiment Videos

Osteopathia striata with sclerosis and thickening of the skull

Related Concept Videos

Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13.

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.

Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays.

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.

Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH.

Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype.

Three layers and two revelations: A multidisciplinary framework for curating real-world data from electronic patient records reveals a decade of breast screening performance.

Incidental Pulmonary Embolism Detection on Routine Contrast-Enhanced CT before and after Deployment of a Commercial AI Tool: A Real-World Evaluation.

Dosimetric comparison of automated noncoplanar volumetric-modulated arc therapy and intensity-modulated proton therapy for total scalp irradiation in angiosarcoma of the scalp.

Coronary atherosclerosis, myocardial perfusion, and interstitial fibrosis between diabetic and nondiabetic patients with stable chest pain: a propensity score matching study.

Sex differences in cardiac function and remodelling in patients with preserved left ventricular ejection fraction across all stages of chronic kidney disease.

Comparison of age-specific T1 and T2 values and evaluation of the utility of age-specific cutoff values for triangular fibrocartilage complex injuries.

Clinical Surrogate Endpoints in Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Findings From a Two-Year Natural History Study.

Patient-Reported Quality of Life and Treatment Experiences Among Patients with Neovascular Age-Related Macular Degeneration Receiving Intravitreal Aflibercept in Colombia: A Qualitative Study.

Patterns and Causes of Adult Blindness in a Tertiary Ophthalmic Center in Somalia: The Burden of Trauma-Related Visual Loss.

Lateral Semicircular Canal Occlusion in Patients with Refractory Meniere's Disease.

Quality of life and its determinants among glaucoma patients attending Berhan Aini Ophthalmic National Referral Hospital: A cross-sectional study.

Long-Term Visual Field Outcomes after failed trabeculectomy: Same site Trabeculectomy versus Ahmed Glaucoma Valve Implantation.

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Osteopathia striata with sclerosis and thickening of the skull

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