Results 141 to 150 of about 2,286 (158)

Apert Syndrome.

The Journal of the Association of Physicians of India, 2021
Amith, Ram, Anil, Bharani
openaire   +1 more source

Apert syndrome with omphalocele: A case report

Birth Defects Research Part A: Clinical and Molecular Teratology, 2014
Maria Paz Bidondo, Boris Groisman
exaly  

Apert-Syndrom

2018
Heike Kaltofen, Dierk A. Vagts, Uta Emmig, Peter Biro   +3 more
openaire   +1 more source

Genotype–phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery

Clinical Genetics, 2000
A Golla
exaly  

Apparent Apert syndrome with polydactyly: Rare pleiotropic manifestation or new syndrome?

American Journal of Medical Genetics Part A, 1987
Pierre Maroteaux, P Maroteaux
exaly  

Apert or Apert-Crouzon Syndrome

2008
openaire   +1 more source

Metopic suture in fetuses with Apert syndrome at 22-27 weeks of gestation

Ultrasound in Obstetrics and Gynecology, 2006
C Faro, R Chaoui, J M Levaillant
exaly  

A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis

Bone, 2008
Liangjun Yin, Xiaolan Du, Huabing Qi
exaly  

Apert's syndrome

2004
openaire   +1 more source

De Novo Alu-Element Insertions in FGFR2 Identify a Distinct Pathological Basis for Apert Syndrome

American Journal of Human Genetics, 1999
Michael Oldridge, Donna M Mcdonald-Mcginn, Gillian M Morriss-Kay   +2 more
exaly