[Clinical picture, diagnosis and genetic aspects of hypochondroplasia]

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

Case Report: A severe case of human parechovirus encephalitis in a neonate.

Frontiers in pediatrics·2026

Neonatal respiratory distress beyond common causes: surfactant dysfunction disorders and other etiologies of childhood interstitial lung disease.

Frontiers in pediatrics·2026

Performance of non-invasive prenatal screening for 15q11q13 copy number variations in a cohort of 90,693 pregnancies.

Frontiers in genetics·2026

A Large Arachnoid Cyst in a Preterm Infant: A Case Report and Management Insights.

Journal of clinical ultrasound : JCU·2026

Investigation and Management of Neonates Presenting to Hospital With Fever: A Retrospective Cohort Study.

Journal of paediatrics and child health·2026

Prenatal MRI quantitative analysis of the nonlinear morphological changes of the choroid plexus during the progression of fetal ventriculomegaly.

BMC medical imaging·2026

Related Experiment Videos

[Clinical picture, diagnosis and genetic aspects of hypochondroplasia]

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].

Case Report: A severe case of human parechovirus encephalitis in a neonate.

Neonatal respiratory distress beyond common causes: surfactant dysfunction disorders and other etiologies of childhood interstitial lung disease.

Performance of non-invasive prenatal screening for 15q11q13 copy number variations in a cohort of 90,693 pregnancies.

A Large Arachnoid Cyst in a Preterm Infant: A Case Report and Management Insights.

Investigation and Management of Neonates Presenting to Hospital With Fever: A Retrospective Cohort Study.

Prenatal MRI quantitative analysis of the nonlinear morphological changes of the choroid plexus during the progression of fetal ventriculomegaly.

Related Experiment Videos

[Clinical picture, diagnosis and genetic aspects of hypochondroplasia]

Related Concept Videos

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