Osteoporosis-pseudoglioma syndrome

Namaqualand hip dysplasia in South Africa: The molecular determinant elucidated.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde·2021

Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype-phenotype correlation.

BDJ open·2019

Hereditary dentine dysplasias: terminology in the context of osteogenesis imperfecta.

British dental journal·2016

CANDLE Syndrome: orodfacial manifestations and dental implications.

Head & face medicine·2015

The tricho-rhino-phalangeal syndrome: oral manifestations and management.

SADJ : journal of the South African Dental Association = tydskrif van die Suid-Afrikaanse Tandheelkundige Vereniging·2014

Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families.

Clinical genetics·2014

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

Related Experiment Videos

Osteoporosis-pseudoglioma syndrome

Related Concept Videos

Namaqualand hip dysplasia in South Africa: The molecular determinant elucidated.

Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype-phenotype correlation.

Hereditary dentine dysplasias: terminology in the context of osteogenesis imperfecta.

CANDLE Syndrome: orodfacial manifestations and dental implications.

The tricho-rhino-phalangeal syndrome: oral manifestations and management.

Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families.

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 syndrome

Related Concept Videos

Related Articles