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Articles (39)

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1-10 of 39 results for ciliopathy

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Select article: Renal Pathology of Ciliopathies

Retricted access

Research article

First published 2024-9

Renal Pathology of Ciliopathies

Thivya Sekar, Neil J. Sebire

Pediatric and Developmental Pathology

Select article: Using human urine-derived renal epithelial cells to model kidney disease in inherited ciliopathies

Open access

Research article

First published 2019-07-04

Using human urine-derived renal epithelial cells to model kidney disease in inherited ciliopathies

Elisa Molinari, John A. Sayer

Translational Science of Rare Diseases

Select article: The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity

Open access

Research article

First published 2019-07-04

The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity

Melissa A. Parisi

Translational Science of Rare Diseases

Select article: Clinical characteristics of individual organ system disease in non-motile ciliopathies

Open access

Research article

First published 2019-07-04

Clinical characteristics of individual organ system disease in non-motile ciliopathies

Angela Grochowsky, Meral Gunay-Aygun

Translational Science of Rare Diseases

Select article: Ciliopathy gene variants and perioperative respiratory outcomes in infants with heterotaxy syndrome and congenital heart disease

Free access

Research article

First published 2023-07-25

Ciliopathy gene variants and perioperative respiratory outcomes in infants with heterotaxy syndrome and congenital heart disease

Jonathan Marquez, Lauren N. Carlozzi, Danny E. Miller [...]

Translational Science of Rare Diseases

Select article: Retinal disease in ciliopathies: Recent advances with a focus on stem cell-based therapies

Open access

Research article

First published 2019-07-04

Retinal disease in ciliopathies: Recent advances with a focus on stem cell-based therapies

Holly Yu Chen, Emily Welby, Tiansen Li [...]

Translational Science of Rare Diseases

Select article: Severe Ciliopathy-Like Phenotype in an Infant With a Novel MPDU1 Missense Variant

Retricted access

Case report

First published 2023-3

Severe Ciliopathy-Like Phenotype in an Infant With a Novel MPDU1 Missense Variant

Sihem Darouich, Houda Bellamine, Ichrak Khamassi

Pediatric and Developmental Pathology

Select article: Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development

Retricted access

Research article

First published 2018-1

Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development

P. Cela, M. Hampl, N.A. Shylo [...]

Journal of Dental Research

Select article: Novel Treatments for Polycystic Kidney Disease

Open access

Research article

First published 2019-07-04

Novel Treatments for Polycystic Kidney Disease

Ameya Patil, William E. Sweeney, Cynthia G. Pan [...]

Translational Science of Rare Diseases

Select article: Saccular Cyst and Airway Compromise in a New Born With Ciliopathy

Free access

Other

First published 2020-5

Saccular Cyst and Airway Compromise in a New Born With Ciliopathy

Maayan Gruber, Nerine Gregersen, Jo Hegarty [...]

Ear,Nose & Throat Journal

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