Results 141 to 150 of about 2,524,364 (180)

Loss of Snhg5 disrupts cell-cycle regulation without altering cystogenesis in a mouse model of polycystic kidney disease. [PDF]

Sci Rep
D'Amico S, Dar U, Eckberg K, Weisser I, Hossain C, Bronstein R, Aboudehen K.   +6 more
europepmc   +1 more source

Use of Next-Generation Sequencing and Whole-Exome Sequencing in the Diagnosis of Adult-Onset Familial Intrahepatic Cholestasis: Challenges in Interpreting Variants of Uncertain Significance. [PDF]

Diagnostics (Basel)
Conti A, Gabrielli F, Ferrari S, Vaisfeld A, De Masi C, Azzaroli F, Piscaglia F, Vitale G.   +7 more
europepmc   +1 more source

BICC1 interacts with PKD1 and PKD2 to drive cystogenesis in ADPKD. [PDF]

Elife
Tran U, Streets AJ, Smith D, Decker E, Kirschfink A, Izem L, Hassey JM, Rutland B, Valluru MK, Bräsen JH, Ott E, Epting D, Eisenberger T, Ong ACM, Bergmann C, Wessely O.   +15 more
europepmc   +1 more source

Neonatal-Onset Refractory Thrombocytopenia and Anemia Associated With a Homozygous In-Frame NFE2 Duplication. [PDF]

Am J Case Rep
Uddin MS, Albehair M, Alshammari FNM, Esmail A, Shafeen K, Bin Hassan A, Bawazier H.   +6 more
europepmc   +1 more source

Precision Medicine in Pediatric Nephrology: From Shared Clinical Phenotypes to Genotype-Guided Diagnosis and Management. [PDF]

Genes (Basel)
Dotis J, Printza N.
europepmc   +1 more source

Targeted genomic DNA sequencing (506-gene panel) and whole-exome sequencing analysis of EBV-positive inflammatory follicular dendritic cell sarcoma. [PDF]

BMC Cancer
You Z, Chen S, Chen X, Chen X, Wang C.
europepmc   +1 more source

Integrating single-cell multi-omics and machine learning to reveal triaptosis heterogeneity in clear cell renal cell carcinoma. [PDF]

Hum Genomics
Dai H, Lu R, Zhang M, Hang Z, Jiang K, Qin C, Zhao Y.   +6 more
europepmc   +1 more source

Clinical application value of preconception and prenatal carrier screening in Yinchuan. [PDF]

Front Genet
Han H, Zhu X, Chai L, Ha Y, Zhao F, Pan L.   +5 more
europepmc   +1 more source

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses. [PDF]

Hum Genomics
Frank MSB, Bennett MK, Ha TT, Moore L, Arts P, Byrne AB, Babic M, Arriola-Martinez L, Toubia J, Brautigan PJ, Feng J, Schwarz Q, Thomas PQ, Piltz SG, White MA, Moghimi A, Strachan K, Kwan E, Springer A, Lewit-Mendes M, Dearman J, Davis T, Kevin L, McCarthy HJ, Liebelt J, Krzesinski E, Regan M, Verma K, McGillivray G, Jayasinghe K, Jackson MR, Barnett CP, Scott HS.   +32 more
europepmc   +1 more source

Recommendations for management of pregnancy complicated by Caroli disease: A case report and literature review. [PDF]

ILIVER
Liang C, Bai L, Hou W, Song WY, Zhu YX, Zheng SJ.   +5 more
europepmc   +1 more source