Results 141 to 150 of about 4,180 (225)

EDA Mutations Causing X-Linked Recessive Oligodontia with Variable Expression. [PDF]

Genes (Basel)
Lee YJ, Kim YJ, Chae W, Kim SH, Kim JW.
europepmc   +1 more source

A recurrent mosaic mutation in SMO, encoding the hedgehog signal transducer smoothened, is the major cause of Curry-Jones syndrome [PDF]

, 2016
et al,, Grange, Dorothy K
core   +1 more source

Case Report: Novel pathogenic variant in autosomal recessive <i>WNT10A</i>-related odonto-onycho-dermal dysplasia. [PDF]

Front Genet
Kalaszi M, Moore C, Koniari C, Mavridis T.   +3 more
europepmc   +1 more source

The aetiology of hypodontia: The prevalence, severity and location of hypodontia within families [PDF]

, 2009
Brook, AH, Elcock, C, Griffin, RC, Parkin, N, Smith, RN   +4 more
core   +1 more source

Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management. [PDF]

Case Rep Dent
Shariati M, Tavassoli-Hojjati S, Hoseini AP, Jadidi H.   +3 more
europepmc   +1 more source

Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review. [PDF]

Clin Exp Pediatr
Ghosh U, Agrawal A, Srinivasan VM, Manisha R, Shukla U, Jain V, Nilay M, Kumar H.   +7 more
europepmc   +1 more source

Nasal Myiasis in a Female with Christ-Siemens-Touraine Syndrome: A Case Report. [PDF]

JNMA J Nepal Med Assoc
Maharjan L, Shah A, Yadav D, Shrestha N.
europepmc   +1 more source

Prenatal Identification of an EDA Variant in Dichorionic Male Twins: CfDNA Signal with Invasive Confirmation. [PDF]

Genes (Basel)
Marcella S, Sirica R, Petrillo N, Ianniello M, Mori A, Castiello R, Capone SF, Evangelista E, Suero T, Ruggiero R, Columbro A, Barone A, Malandrenis I, Fico A, Savarese G.   +14 more
europepmc   +1 more source