Interstitial 4p deletion in a child with an Angelman syndrome-like phenotype

Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum.

American journal of medical genetics. Part A·2024

Skin Lesions as a Presenting Feature of Dimorphic T-Lymphoblastic Leukemia in an Adolescent Male.

Journal of pediatric hematology/oncology·2023

Risk factors for inpatient hospital admission following isolated orbital floor fractures.

International journal of oral and maxillofacial surgery·2023

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.

Acta neuropathologica·2019

The Manitoba Youth Justice Program: empowering and supporting youth with FASD in conflict with the law.

Biochemistry and cell biology = Biochimie et biologie cellulaire·2017

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Clinical genetics·2017

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Clinical genetics·2026

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Clinical genetics·2026

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

Clinical genetics·2026

A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.

Clinical genetics·2026

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

Clinical genetics·2026

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Clinical genetics·2026

Quantitative and qualitative lung parameters in photon-counting CT: comparison of ultra-low-dose with standard low-dose protocols.

European radiology·2026

Measurement-anchored Monte Carlo prediction of diagnostic x-ray air kerma using HVL-matched spectra and per-electron normalization.

Medical physics·2026

Chromatin decompaction within the nucleus increases plasma membrane tension promoting NETosis execution, independently of transcription.

Nature communications·2026

Three-dimensional ultrasonographic assessment of the cranial cruciate ligament in medium- to large-sized canine cadavers: A feasibility study.

Veterinary journal (London, England : 1997)·2026

Pulmonary Alveolar Proteinosis: Rethinking Surfactant Homeostasis Through Alveolar Macrophage Lipid-Handling Dysfunction.

Arteriosclerosis, thrombosis, and vascular biology·2026

Counteraction of HMGB1 at ss-dsDNA junctions maintains liquidity of protamine-DNA co-condensates.

Nature communications·2026

Related Experiment Videos

Interstitial 4p deletion in a child with an Angelman syndrome-like phenotype

Related Concept Videos

Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum.

Skin Lesions as a Presenting Feature of Dimorphic T-Lymphoblastic Leukemia in an Adolescent Male.

Risk factors for inpatient hospital admission following isolated orbital floor fractures.

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.

The Manitoba Youth Justice Program: empowering and supporting youth with FASD in conflict with the law.

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

A Homozygous Variant in DMRTB1 Is Associated With Non-Obstructive Azoospermia in Humans.

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Quantitative and qualitative lung parameters in photon-counting CT: comparison of ultra-low-dose with standard low-dose protocols.

Measurement-anchored Monte Carlo prediction of diagnostic x-ray air kerma using HVL-matched spectra and per-electron normalization.

Chromatin decompaction within the nucleus increases plasma membrane tension promoting NETosis execution, independently of transcription.

Three-dimensional ultrasonographic assessment of the cranial cruciate ligament in medium- to large-sized canine cadavers: A feasibility study.

Pulmonary Alveolar Proteinosis: Rethinking Surfactant Homeostasis Through Alveolar Macrophage Lipid-Handling Dysfunction.

Counteraction of HMGB1 at ss-dsDNA junctions maintains liquidity of protamine-DNA co-condensates.

Related Experiment Videos

Interstitial 4p deletion in a child with an Angelman syndrome-like phenotype

Related Concept Videos

Related Articles