Results 151 to 160 of about 15,172 (214)

Frem2 knockout mice exhibit Fraser syndrome phenotypes and neonatal lethality due to bilateral renal agenesis. [PDF]

Sci Rep
Simikyan RG, Zhang X, Strelkova O, Li N, Zhu M, Eckhard A, Baranov PY, Wu X, Richey L, Indzhykulian AA.   +9 more
europepmc   +1 more source

Prenatal diagnosis of Apert syndrome with continuation of pregnancy-a report of two cases. [PDF]

Transl Pediatr
Vida MVG, Makabe SF, Callado GY, Caldas TMRDC, de Souza LRMF, Araujo Júnior E, Peixoto AB.   +6 more
europepmc   +1 more source

Fraser Syndrome: A Narrative Review Based on a Case from Vietnam and the Past 20 Years of Research. [PDF]

Diagnostics (Basel)
Thi Pham XT, Nguyen PN, Hoang XS.
europepmc   +1 more source

De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations. [PDF]

J Gene Med
Chen J, Xi X, Xu X, Lin Y.
europepmc   +1 more source

CACNA1C c.1255G>A Variant Is Associated With an Atypical Timothy Syndrome Phenotype. [PDF]

JACC Case Rep
Fanucci V, Nayak HM, Kohli U.
europepmc   +1 more source

Pfeiffer Syndrome (Acrocephalosyndactyly) With Significant Syndactyly and Brachydactyly: A Case Report. [PDF]

Clin Med Insights Case Rep
Justus JO.
europepmc   +1 more source

Stuck Together: A Systematic Review of Hand Syndactyly. [PDF]

Cureus
Gowrie S, Omosebi O, Veith P, Agarwal N, Shah S, Montalbano M, Tubbs RS, Loukas M.   +7 more
europepmc   +1 more source

Syndactyly

, 2016
openaire   +2 more sources

Using Patient Feedback to Improve Treatment Outcomes for Patients with Congenital Dyserythropoietic Anaemia Type I Receiving Interferon Therapy. [PDF]

J Clin Med
Frey K, Brolih S, Scott C, Fordham N, Burrows S, Cole N, Deem K, Jenkins C, Proven M, Babbs C, Roy NBA.   +10 more
europepmc   +1 more source

Co-occurring DMD, GJA1, and novel FYCO1 variants in a proband from a consanguineous oculodentodigital dysplasia family: a rare multi-locus case report. [PDF]

Front Genet
Abhishek K, Mohanta NK, John J, Panda S, Satapathy AK, Rattan R, Ramchander PV.   +6 more
europepmc   +1 more source