Results 121 to 130 of about 3,237 (188)

Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up. [PDF]

Eur J Hum Genet
Brunelle P, Jourdain AS, Escande F, Audebert-Bellanger S, Bouquillon S, Cormier-Daire V, Desdoits A, Lacombe D, Molin A, Gruchy N, Touraine R, Van Gils J, Ghoumid J, Thomes L, Petit F.   +14 more
europepmc   +1 more source

Novel LMX1B variants in nail-patella syndrome

Hong Kong Medical Journal
L T, Leung, S K L, Ho, W C, Yiu, S S W, Cheng, I F M, Lo, H M, Luk   +5 more
openaire   +2 more sources

Epigenetic regulation of vertebrate limb development: from field specification to tissue morphogenesis. [PDF]

Epigenetics
Vallejo-De Lira CM, Galván-Hernández CI, Chimal-Monroy J, Marin-Llera JC.   +3 more
europepmc   +1 more source

Nail-Patella Syndrome in an Adolescent: Importance of Nail Examination. [PDF]

J Dermatol
García Silvera D, Benítez García E, González Rodríguez J, García Peris E, Suárez Hernández J.   +4 more
europepmc   +1 more source

Accuracy and Completeness of Online Patient Information on Nail-Patella Syndrome: A Pilot Cross-Sectional Study. [PDF]

Cureus
Mohamed H, Manoukian D.
europepmc   +1 more source

A Whole Exome Sequencing and Targeted Gene Panel Approach to Identify Rare Etiologies of Pediatric Nephrotic Syndrome in Oman. [PDF]

Kidney Int Rep
Al Riyami MS, Al Alawi I, Al Maskari A, Al Gaithi B, Al Kalbani N, Al Saidi S, Pillai J, Sampson M, Al Hashmi Z, Sayer JA.   +9 more
europepmc   +1 more source

Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome. [PDF]

Clin Nephrol Case Stud
Sampath Kumar D, Shankar M, Sreedhara CG.   +2 more
europepmc   +1 more source

Identification and validation of tumor microenvironment remodeling markers associated with prognosis in differentiated thyroid cancer. [PDF]

Transl Cancer Res
Liu X, Ma Q, Su D, Li Y, Zeng X, Guo L.
europepmc   +1 more source

Elucidating Therapeutic Targets in Hereditary Multicentric Carpotarsal Osteolysis FSGS. [PDF]

J Am Soc Nephrol
Gbadegesin RA, Lane BM.
europepmc   +1 more source

Dorsoventral limb patterning in paired appendages emerged via regulatory repurposing of an ancestral posterior fin module. [PDF]

Mol Biol Evol
Zdral S, Bordignon SG, Meyer A, Ros MA, Woltering JM.   +4 more
europepmc   +1 more source