Results 181 to 190 of about 8,699 (199)

WDR44 Ciliopathy

Abstract This chapter provides a picture and clinical details of WDR44 Ciliopathy, an X-linked syndrome with mild to moderate intellectual disability, hypotonia, craniofacial dysmorphism, microcephaly, minor cardiac defects, skin findings, hand and foot anomalies, join hypermobility, cryptorchidism, and brain anomalies.
Charles E. Schwartz, Roger E. Stevenson, Tao Wang   +2 more
openaire   +1 more source

Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: Past, present and future

Progress in Retinal and Eye Research, 2022
Bharatendu Chandra, Moon Ley Tung, Ying Hsu   +2 more
exaly  

Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance

Fetal and Pediatric Pathology, 2022
Deepti Saxena, Vinita Agrawal, Kausik Mandal   +2 more
exaly  

NPHP1‐Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases

Clinical Case Reports (discontinued), 2023
Shivania Reddy
exaly  

The ciliopathies and their relationship with ophthalmology

Archivos de la Sociedad Española de Oftalmología (English Edition), 2013
E D, Silva, M D, Pinazo-Durán
openaire   +2 more sources

Molecular Diagnosis and Prenatal Phenotype Analysis of Eight Fetuses With Ciliopathies

Frontiers in Genetics, 2021
Qixiang Shao, Qiong Pan, Shao Qixiang
exaly  

Genes and molecular pathways underpinning ciliopathies

Nature Reviews Molecular Cell Biology, 2017
Jeremy F Reiter, Michel R Leroux, Reiter Jeremy F   +2 more
exaly  

Olfactory Loss and Dysfunction in Ciliopathies: Molecular Mechanisms and Potential Therapies

Current Medicinal Chemistry, 2019
Cedric R Uytingco, Jeffrey R Martens
exaly  

Smelling the roses and seeing the light: gene therapy for ciliopathies

Trends in Biotechnology, 2013
Jeremy C Mcintyre, Jeffrey R Martens
exaly  

Ciliopathy insights

Science, 2020
openaire   +1 more source