Results 161 to 170 of about 15,172 (214)

The molecular characterization of seven novel GLI family zinc finger 3 (<i>GLI3</i>) variants in Chinese families with limb malformations. [PDF]

Front Genet
Tao S, Gu X, Wang X, Shen X, Zhao X.
europepmc   +1 more source

Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification. [PDF]

Genet Sel Evol
Jacinto J, Letko A, Gentile A, Otter A, Floyd T, Collins R, Richey M, Carty H, Scholes S, Jones A, Fuller H, Häfliger IM, Strugnell B, Studer E, Benazzi C, Bolcato M, Starič J, Diana A, Weber J, Freick M, Lühken G, Tammen I, Kraft DCE, Lindgren CM, Sickinger M, Soto S, O'Rourke BA, Agerholm JS, Drögemüller C.   +28 more
europepmc   +1 more source

Case Report: Compound heterozygous variants in <i>BHLHA9</i> cause complex syndactyly with oligodactyly, renal artery variation, and facial scar. [PDF]

Front Pediatr
Wei W, Wang X, Zhang T, Zhong Y, Zhang J, Yuan H, Shi X, He Y, Pan H, Yang Z, Wang Y.   +10 more
europepmc   +1 more source

A population description of CULAs using combined documentation of compound phenotypes according to the Oberg-Manske-Tonkin classification. [PDF]

JPRAS Open
Ten Cate FJ, van Doesburg MHM.
europepmc   +1 more source

Delayed Surgical Management of Congenital Syndactyly Improves Range of Motion: A Long-Term Follow-Up. [PDF]

J Clin Med
Lőrincz A, Nudelman H, Kormos EI, Józsa G.   +3 more
europepmc   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes. [PDF]

Clin Genet
Mokhtari A, Charbonneau J, Miranda V, Jizi K, Delrue MA, Egerszegi P, Thiffault I, Campeau PM.   +7 more
europepmc   +1 more source

A Case of Pfeiffer Syndrome Type 1

Haseki Tıp Bülteni, 2010
Ali Karaman, Fuat Laloğlu, Remzi Arslan
doaj  

Cryptophthalmos with syndactyly.

Indian journal of ophthalmology, 1976
openaire   +2 more sources