Osteoporosis-pseudoglioma or osteogenesis imperfecta?

Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2025

Mother and daughter with Kenny-Caffey syndrome: the adult phenotype.

European journal of medical genetics·2024

Zurich Fabry study - prevalence of Fabry disease in young patients with first cryptogenic ischaemic stroke or TIA.

European journal of neurology·2012

Propionic acidemia: neonatal versus selective metabolic screening.

Journal of inherited metabolic disease·2011

Mutation analysis in 54 propionic acidemia patients.

Journal of inherited metabolic disease·2011

Circulating matrix γ-carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome.

Journal of thrombosis and haemostasis : JTH·2011

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita.

Clinical genetics·2026

Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.

Clinical genetics·2026

Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights.

Clinical genetics·2026

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.

Clinical genetics·2026

Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian Patients.

Clinical genetics·2026

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

Clinical genetics·2026

Performance of Alzheimer Disease Plasma Biomarkers in Patients With Prion Diseases.

Neurology·2026

A propensity score-matched comparison of medium- to long-term outcomes between plasmakinetic enucleation of the prostate and transurethral resection of the prostate for benign prostatic hyperplasia.

Translational andrology and urology·2026

[Comparative analysis of the results of immunohistochemical study of androgen receptor expression in the epithelial tissue of the prostate gland in patients with prostate hyperplasia with testosterone deficiency and normal testosterone levels].

Urologiia (Moscow, Russia : 1999)·2026

Bilateral Giant Cell Tumour of the Achilles Tendon Sheath: A Rare Case Managed with Peroneus Brevis Tendon Transfer.

Case reports in orthopedics·2026

Endoscopic Resection of Bizarre Parosteal Osteochondromatous Proliferation of the Calcaneocuboid Joint.

Arthroscopy techniques·2026

53BP1-independent Shieldin-BRCA1 antagonism at replication-coupled double-strand breaks.

Nature communications·2026

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Osteoporosis-pseudoglioma or osteogenesis imperfecta?

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Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathy.

Mother and daughter with Kenny-Caffey syndrome: the adult phenotype.

Zurich Fabry study - prevalence of Fabry disease in young patients with first cryptogenic ischaemic stroke or TIA.

Propionic acidemia: neonatal versus selective metabolic screening.

Mutation analysis in 54 propionic acidemia patients.

Circulating matrix γ-carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome.

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita.

Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.

Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights.

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.

Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian Patients.

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

Performance of Alzheimer Disease Plasma Biomarkers in Patients With Prion Diseases.

A propensity score-matched comparison of medium- to long-term outcomes between plasmakinetic enucleation of the prostate and transurethral resection of the prostate for benign prostatic hyperplasia.

[Comparative analysis of the results of immunohistochemical study of androgen receptor expression in the epithelial tissue of the prostate gland in patients with prostate hyperplasia with testosterone deficiency and normal testosterone levels].

Bilateral Giant Cell Tumour of the Achilles Tendon Sheath: A Rare Case Managed with Peroneus Brevis Tendon Transfer.

Endoscopic Resection of Bizarre Parosteal Osteochondromatous Proliferation of the Calcaneocuboid Joint.

53BP1-independent Shieldin-BRCA1 antagonism at replication-coupled double-strand breaks.

Related Experiment Videos

Osteoporosis-pseudoglioma or osteogenesis imperfecta?

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