Normal size of hands and feet in Prader-Willi syndrome

The different applications of Vertebral Body Tethering - Narrative review and clinical experience.

Journal of orthopaedics·2023

The timing of tether breakage influences clinical results after VBT.

European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·2022

Analysis of the risk factors for early tether breakage following vertebral body tethering in adolescent idiopathic scoliosis.

European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·2022

Improvement of facial scar appearance and microcirculation by autologous lipofilling.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS·2014

Prenatal genetic counseling referrals for advanced maternal age: still room for improvement.

Prenatal diagnosis·2013

The SHOX region and its mutations.

Journal of endocrinological investigation·2010

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

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Clinical genetics·2026

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Clinical genetics·2026

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Clinical genetics·2026

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

Pediatric hepatic sarcoidosis presenting as hypersplenism and portal hypertension.

BMJ case reports·2026

Giant Cell Tumor of the Distal Humerus: A Rare Location With a Good Response to Denosumab.

Cureus·2026

Early-onset type 1 diabetes mellitus in a child with a pathogenic CTLA4 variant complicated by generalized lipodystrophy and severe insulin resistance: a case report and literature review.

Translational pediatrics·2026

Proposal of a new tool for paediatric primary spontaneous pneumothorax: the Spontaneous Pneumothorax in Adolescents and Children Evaluation (SPACE) score.

Frontiers in pediatrics·2026

Excess mortality convergence after paediatric allogeneic transplantation: a caveat for the right to be forgotten. Comment on: "Decreasing excess mortality after allogeneic stem cell transplantation for acute leukemia".

Haematologica·2026

Pediatric orbital solitary fibrous tumor/hemangiopericytoma presenting with isolated eyelid edema: a case report.

Frontiers in pediatrics·2026

Related Experiment Videos

Normal size of hands and feet in Prader-Willi syndrome

Related Concept Videos

The different applications of Vertebral Body Tethering - Narrative review and clinical experience.

The timing of tether breakage influences clinical results after VBT.

Analysis of the risk factors for early tether breakage following vertebral body tethering in adolescent idiopathic scoliosis.

Improvement of facial scar appearance and microcirculation by autologous lipofilling.

Prenatal genetic counseling referrals for advanced maternal age: still room for improvement.

The SHOX region and its mutations.

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.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Pediatric hepatic sarcoidosis presenting as hypersplenism and portal hypertension.

Giant Cell Tumor of the Distal Humerus: A Rare Location With a Good Response to Denosumab.

Early-onset type 1 diabetes mellitus in a child with a pathogenic CTLA4 variant complicated by generalized lipodystrophy and severe insulin resistance: a case report and literature review.

Proposal of a new tool for paediatric primary spontaneous pneumothorax: the Spontaneous Pneumothorax in Adolescents and Children Evaluation (SPACE) score.

Excess mortality convergence after paediatric allogeneic transplantation: a caveat for the right to be forgotten. Comment on: "Decreasing excess mortality after allogeneic stem cell transplantation for acute leukemia".

Pediatric orbital solitary fibrous tumor/hemangiopericytoma presenting with isolated eyelid edema: a case report.

Related Experiment Videos

Normal size of hands and feet in Prader-Willi syndrome

Related Concept Videos

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