[Clinico-genetic analysis of multiple epiphyseal dysplasia]

A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia.

Endocrine journal·1999

[Molecular-genetic characteristics of the deleted region of chromosome 8q24.1 in Langer-Giedion and tricho-rhino-phalangeal type I syndromes].

Genetika·1996

A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia.

Human mutation·1994

[Morphofunctional aspects of genetic analysis of osteogenesis imperfecta in cultured skin fibroblasts].

Biulleten' eksperimental'noi biologii i meditsiny·1992

[Pathogenetic aspects of studying clonal properties of bone marrow stromal cells in diseases of the osteoarticular system].

Ortopediia travmatologiia i protezirovanie·1990

[Computed tomography of children with dysplasia of the hip joint].

Vestnik rentgenologii i radiologii·1989

[Atlanto-axial instability in injuries of the ligament system in children and adolescents].

Ortopediia travmatologiia i protezirovanie·1991

[Roentgenological diagnosis of dystrophic bone cysts in children].

Ortopediia travmatologiia i protezirovanie·1991

[Computerized tomography in the diagnosis and control of the effectiveness of the treatment of injuries of the Achilles tendon].

Ortopediia travmatologiia i protezirovanie·1991

[Surgical treatment of scoliosis by the Armstrong method].

Ortopediia travmatologiia i protezirovanie·1991

[Injuries of the spine and spinal cord associated with other injuries].

Ortopediia travmatologiia i protezirovanie·1991

[Supratrochanteric osteotomy of the hip in adults with dysplastic coxarthrosis].

Ortopediia travmatologiia i protezirovanie·1991

Optimized Cas9-Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026

The transcription factor CLAMP is required for neurogenesis in Drosophila melanogaster.

Genetics·2026

A functional missense variant in MRI1 links methionine salvage to reduced type 2 diabetes risk.

iScience·2026

The Effect of MEG3 Promoter Methylation on MEG3 Expression in Acute Myeloid Leukemia: Assessment by High-Resolution Melting (HRM) Analysis.

Journal of blood medicine·2026

Isomer-Resolved Mass Spectrometry Imaging Reveals Regional and Age-Dependent Glycolipid Metabolism in Rat Brain.

ACS central science·2026

From skin aging biomarkers to precision esthetic longevity: a translational diagnostic framework.

Frontiers in medicine·2026

Related Experiment Videos

[Clinico-genetic analysis of multiple epiphyseal dysplasia]

Related Concept Videos

A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia.

[Molecular-genetic characteristics of the deleted region of chromosome 8q24.1 in Langer-Giedion and tricho-rhino-phalangeal type I syndromes].

A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia.

[Morphofunctional aspects of genetic analysis of osteogenesis imperfecta in cultured skin fibroblasts].

[Pathogenetic aspects of studying clonal properties of bone marrow stromal cells in diseases of the osteoarticular system].

[Computed tomography of children with dysplasia of the hip joint].

[Atlanto-axial instability in injuries of the ligament system in children and adolescents].

[Roentgenological diagnosis of dystrophic bone cysts in children].

[Computerized tomography in the diagnosis and control of the effectiveness of the treatment of injuries of the Achilles tendon].

[Surgical treatment of scoliosis by the Armstrong method].

[Injuries of the spine and spinal cord associated with other injuries].

[Supratrochanteric osteotomy of the hip in adults with dysplastic coxarthrosis].

Optimized Cas9-Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders.

The transcription factor CLAMP is required for neurogenesis in Drosophila melanogaster.

A functional missense variant in MRI1 links methionine salvage to reduced type 2 diabetes risk.

The Effect of MEG3 Promoter Methylation on MEG3 Expression in Acute Myeloid Leukemia: Assessment by High-Resolution Melting (HRM) Analysis.

Isomer-Resolved Mass Spectrometry Imaging Reveals Regional and Age-Dependent Glycolipid Metabolism in Rat Brain.

From skin aging biomarkers to precision esthetic longevity: a translational diagnostic framework.

Related Experiment Videos

[Clinico-genetic analysis of multiple epiphyseal dysplasia]

Related Concept Videos

Related Articles