Results 131 to 140 of about 2,524,364 (180)

Monogenic kidney disease and monogenic diabetes are present in renal clinic patients with non-genetic diagnoses. [PDF]

Sci Rep
Huang M, Pianta T, Barit D, Mahmood K, Colville D, Mack H, Savige J.   +6 more
europepmc   +1 more source

Gene Allen Oral History (part 2)

Gene Allen, Art Director of "My Fair Lady", "A Star is Born", and "Les Girls".

core  

Integrating Weighted Gene Co-Expression Network and Differential Expression Analyses to Unveil the Role of RNA m6A Methylation Regulators in Idiopathic Parkinson's Disease in Latin America. [PDF]

Life (Basel)
Leiva F, Constandil L, Chana-Cuevas P, Vidal RL, Morales B, Vidal R.   +5 more
europepmc   +1 more source

Distinct genetic variants from the whole-exome sequencing of syndromic anorectal malformations: A cross-sectional study. [PDF]

iScience
Suseelan V, Krishna A A, Zawar A, Prabhu PS, Bhatta P, Paliwal A, Mathur P, Medicherla KM, Polipalli SK, Suravajhala P.   +9 more
europepmc   +1 more source

Atypical Liver Ultrasound Image in a Boy with Autosomal Recessive Polycystic Kidney Disease (ARPKD) and New PKD1 Variant-A Case Report. [PDF]

Genes (Basel)
Turczyn A, Krzemień G, Nguyen D.
europepmc   +1 more source

Reproductive Genetic Carrier Screening in Romania: A Couple-Based Study of Pathogenic Molecular Variants. [PDF]

Int J Mol Sci
Gug M, Gug C, Jurca AA, Popoiu TA, Patrascu R, Roman PA, Olteanu L, Andreescu N.   +7 more
europepmc   +1 more source

The instructive scar - the dynamic role of extracellular matrix in biliary pathophysiology. [PDF]

Dis Model Mech
Waddell SH, Brennan E, Boulter L.
europepmc   +1 more source

Prenatal diagnosis and molecular characterization of <i>PKHD1</i> variants in two Chinese fetuses with Caroli disease/syndrome. [PDF]

Front Genet
Huang H, Zhao S, Wang D, Pan S, Liu F, Chen P, Chen X.   +6 more
europepmc   +1 more source

Scoping Review on Polycystic Liver Disease in PKD1/PKD2 Gene Carriers: Genetic Aspects, Pathophysiology, and Therapeutic Approaches. [PDF]

J Clin Exp Hepatol
Muñoz-Delgado DY, Zuñiga-Hernández LF, Barrios-Bermúdez H, Velasco-Erira S, Diaz-Brochero C, Suarez-Quintero CY.   +5 more
europepmc   +1 more source

Activated Platelets Express GPI-Anchored Fibrocystin-L (PKHD1L1), from Granules, Absent or Deficient in Paroxysmal Nocturnal Hemoglobinuria. [PDF]

Int J Mol Sci
Polgar J, Clemetson JM, Magnenat E, Wells TN, Röss H, Rochat S, Alberio LA, Clemetson KJ.   +7 more
europepmc   +1 more source