Results 21 to 30 of about 355 (107)

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1. [PDF]

J Med Genet, 2023
Pagnamenta AT, Yu J, Evans J, Twiss P, Genomics England Research Consortium, Musculoskeletal GeCIP MDT, Offiah AC, Wafik M, Mehta SG, Javaid MK, Smithson SF, Taylor JC.   +11 more
europepmc   +1 more source

Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report. [PDF]

Appl Clin Genet, 2020
Torres-Canchala L, Castaño D, Silva N, Gómez AM, Victoria A, Pachajoa H.   +5 more
europepmc   +1 more source

Differential diagnosis of syndromic craniosynostosis: a case series. [PDF]

Arch Gynecol Obstet, 2022
Casteleyn T, Casteleyn T, Horn D, Henrich W, Verlohren S.   +4 more
europepmc   +1 more source

Dental approach for Apert syndrome in children: a systematic review. [PDF]

Med Oral Patol Oral Cir Bucal, 2017
López-Estudillo AS, Rosales-Bérber MA, Ruiz-Rodríguez S, Pozos-Guillén A, Noyola-Frías MÁ, Garrocho-Rangel A.   +5 more
europepmc   +1 more source

Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review. [PDF]

Genes (Basel), 2021
Kozma K, Bembea M, Jurca CM, Ioana M, Streață I, Şoşoi SŞ, Pirvu A, Petchesi CD, Szilágyi A, Sava CN, Jurca A, Ujfalusi A, Szűcs Z, Szakszon K.   +13 more
europepmc   +1 more source

[Acrocephalosyndactylia syndromes].

Wiadomosci lekarskie (Warsaw, Poland : 1960), 1980
Z, Kopyść, J, Ryzko, C, Gura
openaire   +3 more sources

Long-term survival without high cancer risk in a cohort of 24 patients with Apert syndrome. [PDF]

Eur J Hum Genet
Cairns BJ, Davidson DM, Smithson SF, Wilkie AOM.   +3 more
europepmc   +1 more source

Posterior Column Release and Lengthening with a Magnetic Growing Rod Construct in Severe Congenital Thoracic Fusion: A Report of 2 Cases. [PDF]

JBJS Case Connect
Trask M, Yamaguchi JT, Redding G, Yaszay B, Browd S, White KK.   +5 more
europepmc   +1 more source

Craniofacial morphology in Apert syndrome: a systematic review and meta-analysis. [PDF]

Sci Rep, 2022
Alam MK, Alfawzan AA, Srivastava KC, Shrivastava D, Ganji KK, Manay SM.   +5 more
europepmc   +1 more source

Clinical Nasal Deviation Following Midface Advancement in Patients With Syndromic Craniosynostosis. [PDF]

J Craniofac Surg
Cuperus IE, Rostamzad P, Bernard SE, Versnel SL, Veder LL, Mathijssen IMJ.   +5 more
europepmc   +1 more source