Results 111 to 120 of about 11,948 (181)

Polydactyly

, 2010
Yuranga Weerakkody, Mohammad Taghi Niknejad, Joshua Yap   +2 more
openaire   +2 more sources

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

Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders. [PDF]

Hum Genomics
Alafghani R, Aljeaid D, Shaik NA, Banaganapalli B, Elango R, Khard G, Habab W, Jadkarim G, Alshaer DS, Almutadares M, Alrayes NM, Issa NM.   +11 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

Temporal loss of <i>En1</i> during limb development causes distinct phenotypes. [PDF]

Genes Dev
Ringel AR, Benetti N, Magg A, Groll F, Schöpflin R, Kühnlein M, Stiege AC, Fischer U, Wittler L, Game L, Lorenz S, Young G, Mundlos S, Allou L.   +13 more
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

The Clinical Utility of Whole-Exome Sequencing in the Prenatal Diagnosis of Fetal Skeletal Dysplasia. [PDF]

Int J Womens Health
Mei Y, Li J, Zhang L, Wei X, Xu Q, Shen C, Qin Y, Zhong Q, Li Y.   +8 more
europepmc   +1 more source

Prune Belly Syndrome Complicated by Congenital Urinary Fistula in a Neonate: A Case Report from Hargeisa Group Hospital, Hargeisa Somaliland. [PDF]

Int Med Case Rep J
Ali AMH, Ibrahim KJ, Hassan AM, Ahmed SI.   +3 more
europepmc   +1 more source