Results 101 to 110 of about 17,999 (210)

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

Classifications in Brief: The Wassel Classification for Radial Polydactyly

Clinical Orthopaedics and Related Research, 2017
M. C. Manske, Colin Kennedy, Jerry I. Huang   +2 more
semanticscholar   +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

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

Expanding the phenotype associated with biallelic SCNM1 variants. [PDF]

Hum Genomics
Iturrate A, Tran-Mau Them F, Verloes A, Pouzet A, de Silva D, Perrin-Sabourin L, Wentzensen IM, Jones K, Upadia J, Abdalla E, Thauvin-Robinet C, Ruiz-Perez VL, Bruel AL.   +12 more
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

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

New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister-Hall Syndrome: A Clinical Report. [PDF]

Mol Genet Genomic Med
Bonilla-Navarrete S, Prieto LE, Carvajal LV, Olave-Rodríguez JA, Rodriguez-Rojas LX, Nastasi-Catanese JA.   +5 more
europepmc   +1 more source

Cost Effectiveness of Hand Postaxial Polydactyly Type B Excision in the Office Versus Operating Room. [PDF]

J Hand Surg Glob Online
Banala M, Struble SL, Cordray H, Chang B, Shah AS, Buttrick E, Vaile JR, Mendenhall SD.   +7 more
europepmc   +1 more source

Novel <i>KIAA0825</i> Variants Underlie Nonsyndromic Postaxial Polydactyly. [PDF]

Genes (Basel)
Abdullah, Bharadwaj T, Javed S, Khan H, Acharya A, Ji W, Umm-E-Kalsoom, Ali H, Schrauwen I, Ahmad W, Lakhani SA, Leal SM.   +11 more
europepmc   +1 more source