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Articles (21)

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1-10 of 21 results for syndromic ciliopathies

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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: 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: 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: 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: 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: Aberrant Proliferation and Cell Fate Underlie Oral Defects in a Mouse Model of EvC Syndrome

Open access

Research article

First published 2026

Aberrant Proliferation and Cell Fate Underlie Oral Defects in a Mouse Model of EvC Syndrome

T. Qiu, M. Hovorakova, H. Peters [...]

Journal of Dental Research

Select article: Nasal Nitric Oxide in Patients with Inherited Retinal Dystrophies

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Other

First published 2015-3

Nasal Nitric Oxide in Patients with Inherited Retinal Dystrophies

Enrico Heffler, Cristiana Marchese, Monica Boita [...]

Journal of Investigative Medicine

Select article: Role of Primary Cilia in Odontogenesis

Retricted access

Review article

First published 2017-8

Role of Primary Cilia in Odontogenesis

M. Hampl, P. Cela, H.L. Szabo-Rogers [...]

Journal of Dental Research

Select article: Placental Mesenchymal Dysplasia and Fetal Renal-Hepatic-Pancreatic Dysplasia: Androgenetic-Biparental Mosaicism and Pathogenesis of an Autosomal Recessive Disorder

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Research article

First published 2013-5

Placental Mesenchymal Dysplasia and Fetal Renal-Hepatic-Pancreatic Dysplasia: Androgenetic-Biparental Mosaicism and Pathogenesis of an Autosomal Recessive Disorder

Raj P. Kapur, Bonnie Cole, Min Zhang [...]

Pediatric and Developmental Pathology

Select article: Primary Cilia and Intraflagellar Transport Proteins in Bone and Cartilage

Retricted access

Review article

First published 2016-11

Primary Cilia and Intraflagellar Transport Proteins in Bone and Cartilage

X. Yuan, S. Yang

Journal of Dental Research

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