Results 101 to 110 of about 11,948 (181)

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

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

Central Ray Synpolydactyly with Bilateral Medial Foot Polydactyly and Hydrocephalus: A Case Report. [PDF]

Plast Reconstr Surg Glob Open
Alobaidi H, Suraya F, Alrajhi R, Alghamdi AM, Mirza M.   +4 more
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

A Rare Foot Duplication; Mirror Foot - Case Report. [PDF]

Sisli Etfal Hastan Tip Bul
Akpinar I, Cerikan MD, Dilek OF.
europepmc   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome. [PDF]

Clin Genet
Showpnil IA, Feinstein-Goren N, Greenbaum L, Barel O, Koboldt DC, Brugmann SA, Weaver KN, Slavotinek A, Pode-Shakked B, Stottmann RW.   +9 more
europepmc   +1 more source

A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani family. [PDF]

Genet Mol Biol
Fatima S, Sun D, Han J, Qiu M, Ahmad S, Zubair M, Ali MZ, Abbas S, Shafiq M, Muzammal M, Gul H, Khan J, Du S, Khan MA.   +13 more
europepmc   +1 more source

Cesarean delivery in a pregnant woman with Ellis-van Creveld syndrome: a case report. [PDF]

BMC Pregnancy Childbirth
Yu Y, Zhuang W.
europepmc   +1 more source

A case report of Culler-Jones syndrome with deafness carrying a novel mutation in GLI2 gene. [PDF]

BMC Pediatr
Yuan X, Chu S, Gu W.
europepmc   +1 more source

Case Report: A case of Culler-Jones syndrome caused by <i>GLI2</i> gene mutation. [PDF]

Front Pediatr
Xie X, Wei Y, Li Y, Wang J, Zhang Y, Wu J, Wang F.   +6 more
europepmc   +1 more source