Polymorphism in exon M7 of the PTHR gene

Pseudohypoparathyroidism: one gene, several syndromes.

Journal of endocrinological investigation·2016

Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred.

Bone·2012

PTH and stem cells.

Journal of endocrinological investigation·2011

Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications.

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association·2008

Biological pathways and in vivo antitumor activity induced by Atiprimod in myeloma.

Leukemia·2007

Post-transplant hypophosphatemia: Tertiary 'Hyper-Phosphatoninism'?

Kidney international·2006

Zebrafish knockout models of atxn1a, atxn1b, and atxn1l reveal distinct and shared phenotypic and transcriptomic alterations.

Human molecular genetics·2026

PONG 2.0: allele imputation for the killer cell immunoglobulin-like receptors.

Human molecular genetics·2026

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Human molecular genetics·2026

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Human molecular genetics·2026

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

Human molecular genetics·2026

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Human molecular genetics·2026

Evaluating the Impact of Enhanced Stent Visualization on PCI Outcomes in Older Patients With Multivessel Disease.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions·2026

DENSE-GUIDED DEEP MOTION NETWORKS ACCOUNTED BY LARGE ROTATIONS TO IMPROVE MYOCARDIAL STRAIN ANALYSIS FROM ROUTINE CINE MRI.

Proceedings. IEEE International Symposium on Biomedical Imaging·2026

Comparison of Work-Related Musculoskeletal Symptoms Between Quay and Rubber-Tyred Gantry Crane Operators: A Cross-Sectional Study.

Health science reports·2026

Mechanotransduction and cell fate: from molecular sensors to multicellular self-organization.

Frontiers in cell and developmental biology·2026

Collagen-heparan sulfate microcarriers support mesenchymal stem cell culture in microgravity and streamline post-flight recovery.

NPJ microgravity·2026

Theoretical modeling and optimization design of T-shape cavity CMUTs for enhanced acoustic performances and lowered bias voltage.

Microsystems & nanoengineering·2026

Related Experiment Videos

Polymorphism in exon M7 of the PTHR gene

Related Concept Videos

Pseudohypoparathyroidism: one gene, several syndromes.

Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred.

PTH and stem cells.

Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications.

Biological pathways and in vivo antitumor activity induced by Atiprimod in myeloma.

Post-transplant hypophosphatemia: Tertiary 'Hyper-Phosphatoninism'?

Zebrafish knockout models of atxn1a, atxn1b, and atxn1l reveal distinct and shared phenotypic and transcriptomic alterations.

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N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

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CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Evaluating the Impact of Enhanced Stent Visualization on PCI Outcomes in Older Patients With Multivessel Disease.

DENSE-GUIDED DEEP MOTION NETWORKS ACCOUNTED BY LARGE ROTATIONS TO IMPROVE MYOCARDIAL STRAIN ANALYSIS FROM ROUTINE CINE MRI.

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Collagen-heparan sulfate microcarriers support mesenchymal stem cell culture in microgravity and streamline post-flight recovery.

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Related Experiment Videos

Polymorphism in exon M7 of the PTHR gene

Related Concept Videos

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