Results 71 to 80 of about 304 (144)

Apert syndrome: prenatal diagnosis challenge. [PDF]

BMJ Case Rep, 2019
Vieira C, Teixeira N, Cadilhe A, Reis I.
europepmc   +1 more source

Using a Disentangled Neural Network to Objectively Assess the Outcomes of Midfacial Surgery in Syndromic Craniosynostosis. [PDF]

Plast Reconstr Surg
Rickart AJ, Foti S, van de Lande LS, Wagner C, Schievano S, Jeelani NUO, Clarkson MJ, Ong J, Swanson JW, Bartlett SP, Taylor JA, Dunaway DJ.   +11 more
europepmc   +1 more source

Is the Apert foot an overlooked aspect of this rare genetic disease? Clinical findings and treatment options for foot deformities in Apert syndrome. [PDF]

BMC Musculoskelet Disord, 2020
Stauffer A, Farr S.
europepmc   +1 more source

Genetics of craniosynostosis syndromes [PDF]

, 2017
Πάχης, Νικόλαος
core   +1 more source

Comparison Between Surgical Techniques for Correction of Congenital Syndactyly: A Systematic Review and Meta Analysis. [PDF]

Hand (N Y)
Schirlo JM, Saad Cleto A, Beltrame D, Beltrame M, Scortegagna T, Marinelli Martins C.   +5 more
europepmc   +1 more source

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. [PDF]

Eur J Hum Genet
Watts LM, Bertoli M, Attie-Bitach T, Roux N, Rausell A, Paschal CR, Zambonin JL, Curry CJ, Martin B, Tooze RS, Hawkes L, Kini U, Twigg SRF, Wilkie AOM.   +13 more
europepmc   +1 more source

Targeting of C-ROS-1 Activity Using a Controlled Release Carrier to Treat Craniosynostosis in a Preclinical Model of Saethre-Chotzen Syndrome. [PDF]

J Tissue Eng Regen Med
Camp E, Garcia LG, Pribadi C, Paton S, Vasilev K, Anderson P, Gronthos S.   +6 more
europepmc   +1 more source

Ritka genetikai kórképek [PDF]

, 2001
László, Aranka
core  

Improving medical care for adults with complex rare genetic syndromes:A multidisciplinary approach [PDF]

, 2023
Rosenberg, Anna
core  

RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome. [PDF]

PLoS Genet
Leong WY, Tung WL, Wilkie AOM, Hor CHH.
europepmc   +1 more source