Results 91 to 100 of about 17,999 (210)

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

Human Genetics, 2019
Irfan Ullah, Naseebullah Kakar, I. Schrauwen, S. Hussain, Imen Chakchouk, Khurram Liaqat, Anushree Acharya, N. Wasif, R. Santos-Cortez, Saadullah Khan, A. Aziz, Kwanghyuk Lee, Julien Couthouis, D. Horn, Bjørt K. Kragesteen, M. Spielmann, H. Thiele, D. Nickerson, M. Bamshad, A. Gitler, J. Ahmad, M. Ansar, G. Borck, W. Ahmad, S. Leal   +24 more
semanticscholar   +1 more source

A Rare Case of Prenatal Short-Rib Thoracic Dysplasia 11 Subtype With Compound Heterozygous Variants in the <i>DYNC2I2</i> Gene: Presenting Polydactyly and Shortened Limbs. [PDF]

Clin Case Rep
Wang Z, Guan H, Li X, Liao J, Pan Y, Dong X, Hong X.   +6 more
europepmc   +1 more source

Cardioacrofacial dysplasia 1: a case report and literature review. [PDF]

Transl Pediatr
Liang C, Wang Z, Bai G.
europepmc   +1 more source

Enhanced preoperative planning in congenital polydactyly: superior assessment of MCP/MTP joint angular deformity with 3D-FS-FSPGR MRI compared to conventional radiography. [PDF]

Front Pediatr
Li J, Yun Q, Jia Y, Long J, Wang Q, Yang Y, Xu S.   +6 more
europepmc   +1 more source

A novel <i>PRKACB</i> variant associated with bilateral postaxial polydactyly and intrauterine growth restriction: A case report and literature review. [PDF]

Glob Med Genet
Zhang Y, Shen W, Lv Y, Zhao J, Wu J, Wang Y, He X, Tang X.   +7 more
europepmc   +1 more source

Experimental evidence that preaxial polydactyly and forearm radial deficiencies may share a common developmental origin

Journal of Hand Surgery (European Volume), 2019
W. Lam, J. D. Oh, Edward J. Johnson, Sandra Poyatos Pertinez, Chloe Stephens, M. Davey   +5 more
semanticscholar   +1 more source

Polydactyly [PDF]

, 2020
openaire   +1 more source

CRISPR-Cas9-Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel-Gruber Syndrome Phenotype. [PDF]

Genesis
Liu Y, Wang H, Chen L, Wu X, Xu Z, Huang Q, Zhang H, Cao X, Liang X, Zhong X, Luo C.   +10 more
europepmc   +1 more source

Atypical Retinitis Pigmentosa With Systemic Features in Bardet-Biedl Syndrome. [PDF]

Clin Case Rep
Ahsan MU, Shaheen S, Ahmed S.
europepmc   +1 more source

Non-Crosslinked Hyaluronic Acid Redensity 1^® Supports Cell Viability, Proliferation, and Collagen Deposition in Early Burn Management. [PDF]

Pharmaceutics
Liao Z, Chen X, Brusini R, Faivre J, Applegate LA, Flegeau K, Hirt-Burri N.   +6 more
europepmc   +1 more source