Results 91 to 100 of about 304 (144)

A 37-year-old Nigerian woman with Apert syndrome - medical and psychosocial perspectives: a case report. [PDF]

J Med Case Rep, 2018
Kana MA, Baduku TS, Bello-Manga H, Baduku AS.   +3 more
europepmc   +1 more source

Alternative Methods for Nasotracheal Intubation and Extubation in a Patient With Apert Syndrome. [PDF]

Anesth Prog, 2015
Tsukamoto M, Yokoyama T.
europepmc   +1 more source

Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas. [PDF]

Diagn Pathol, 2018
Ito S, Kitazawa R, Haraguchi R, Kondo T, Ouchi A, Ueda Y, Kitazawa S.   +6 more
europepmc   +1 more source

Annotating cancer variants and anti-cancer therapeutics in reactome. [PDF]

Cancers (Basel), 2012
Milacic M, Haw R, Rothfels K, Wu G, Croft D, Hermjakob H, D'Eustachio P, Stein L.   +7 more
europepmc   +1 more source

Tiszaparti esték : gyermekgyógyászati továbbképző előadások 2000-2001 [PDF]

, 2001

core  

A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies. [PDF]

Am J Med Genet A, 2017
Crapster JA, Hudgins L, Chen JK, Gomez-Ospina N.   +3 more
europepmc   +1 more source

Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report. [PDF]

J Med Case Rep, 2017
Schinagl C, Melum GR, Rødningen OK, Bjørgo K, Andresen JH.   +4 more
europepmc   +1 more source

Survey of hereditary blindness at the school for the blind at Worcester [PDF]

core  

Two Cases of Acrocephalosyndactylia [PDF]

, 1943
片岡, 司馬男, 香山, 聖進
core  

[Apert's syndrome (acrocephalosyndactylia) in a 6-year-old girl].

Pediatria polska, 1974
M, Krawczyński, J, Socha, M, Stańska
openaire   +1 more source