Pkhd1 gene - Open Access .click

Results 131 to 140 of about 3,912 (211)

HemaSphere, Volume 9, Issue S1, June 2025.
wiley +1 more source

Clinical application value of pre‐pregnancy carrier screening in Chinese Han childbearing population

Molecular Genetics & Genomic Medicine
Background To explore the clinical application value of pre‐conception expanded carrier screening (PECS) in the Chinese Han ethnicity population of childbearing age.
Li Tan +7 more
doaj +1 more source

CONGENITAL HEPATIC FIBROSIS AND OBLITERATIVE PORTAL VENOPATHY WITHOUT PORTAL HYPERTENSION - A REVIEW OF LITERATURE BASED ON AN ASYMPTOMATIC CASE

Arquivos de Gastroenterologia
The disease and the case reported here are relevant especially because of their varied clinical presentation, possibility of being associated with other disorders affecting several organs and possible differential diagnoses.
Juliana Arrais GUERRA +4 more
doaj +1 more source

Characterizing the nuclear import and functions of cystin, the ciliary protein disrupted in the cpk mouse model of recessive polycystic kidney disease [PDF]

, 2015
Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is a ma-jor cause of pediatric morbidity and mortality. Typically, orthologous animal models are the mainstay for pathogenic studies of human diseases.
Watts, Jacob Asher
core +1 more source

PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta-Helix 1 Repeats [PDF]