Acrodysostosis and blue eyes

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.

Nature genetics·1996

Gene therapy for ornithine transcarbamylase deficiency.

Acta paediatrica Japonica : Overseas edition·1996

The heparin-bound fraction of human lipoprotein-deficient serum inhibits endocytic uptake of oxidized low density lipoprotein by macrophages.

Atherosclerosis·1996

Predominant expression of a receptor tyrosine kinase, TIE, in hematopoietic stem cells and B cells.

Blood·1996

Splicing mutations in the COL4A5 gene in Alport's syndrome: different mRNA expression between leukocytes and fibroblasts.

American journal of kidney diseases : the official journal of the National Kidney Foundation·1995

A late-appearing Philadelphia chromosome in acute lymphoblastic leukemia confirmed by expression of BCR-ABL mRNA.

Leukemia·1995

TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing.

Human genetics·2026

The Russian FSHD registry: a first look at the cohort.

Human genetics·2026

Genetic ancestry of the Mulam ethnic group: admixture from ancient Yellow River, southern native, and Austronesian populations.

Human genetics·2026

Identification of novel loci regulating circulating melatonin and its causal relationship with hypertension.

Human genetics·2026

α-Thalassemia in Oraons-indigenous tribal population from Jharkhand, India: insights to common deletions.

Human genetics·2026

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.

Human genetics·2026

Outcomes of Pinning Without Ligament Repair for Perilunate Dislocations and Fracture-Dislocations: A Case Series of 11 Patients.

Case reports in orthopedics·2026

Prevalence of Capitellar Osteochondritis Dissecans and Medial Epicondylar Abnormalities in Female Youth Baseball Players: A Large-Scale Ultrasonographic Screening Study.

Orthopaedic journal of sports medicine·2026

The impact of technical factors on the chest radiographic findings in COVID-19 pneumonia.

Journal of the colleges of medicine of South Africa·2026

Biomechanical stability of coronoid fractures with different fragment heights in the terrible triad of the elbow: CT measurement and finite element analysis.

Frontiers in bioengineering and biotechnology·2026

Moving Beyond Linear Dimensions: Using Stone Volume to Better Predict High-Complexity PCNL Outcomes.

Journal of endourology·2026

A Composite Biomechanical Index for Dynamic Postural Control in Canadian Canoe Athletes.

International journal of sports medicine·2026

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Acrodysostosis and blue eyes

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Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.

Gene therapy for ornithine transcarbamylase deficiency.

The heparin-bound fraction of human lipoprotein-deficient serum inhibits endocytic uptake of oxidized low density lipoprotein by macrophages.

Predominant expression of a receptor tyrosine kinase, TIE, in hematopoietic stem cells and B cells.

Splicing mutations in the COL4A5 gene in Alport's syndrome: different mRNA expression between leukocytes and fibroblasts.

A late-appearing Philadelphia chromosome in acute lymphoblastic leukemia confirmed by expression of BCR-ABL mRNA.

TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing.

The Russian FSHD registry: a first look at the cohort.

Genetic ancestry of the Mulam ethnic group: admixture from ancient Yellow River, southern native, and Austronesian populations.

Identification of novel loci regulating circulating melatonin and its causal relationship with hypertension.

α-Thalassemia in Oraons-indigenous tribal population from Jharkhand, India: insights to common deletions.

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.

Outcomes of Pinning Without Ligament Repair for Perilunate Dislocations and Fracture-Dislocations: A Case Series of 11 Patients.

Prevalence of Capitellar Osteochondritis Dissecans and Medial Epicondylar Abnormalities in Female Youth Baseball Players: A Large-Scale Ultrasonographic Screening Study.

The impact of technical factors on the chest radiographic findings in COVID-19 pneumonia.

Biomechanical stability of coronoid fractures with different fragment heights in the terrible triad of the elbow: CT measurement and finite element analysis.

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A Composite Biomechanical Index for Dynamic Postural Control in Canadian Canoe Athletes.

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Acrodysostosis and blue eyes

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