Results 111 to 120 of about 168,602 (136)

PEDIATRIC MACULAR HOLE ASSOCIATED WITH VITREORETINAL TRACTION ON EPIRETINAL LESIONS: A CASE REPORT AND LITERATURE REVIEW. [PDF]

Retin Cases Brief Rep
Said RB, Kraker JA, Trejo-Lopez J, Salomao DR, Scruggs BA.   +4 more
europepmc   +1 more source

Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations. [PDF]

Ophthalmol Ther
Hall J, Corton M, Fries FN, Obst J, Grünauer-Kloevekorn C, Seitz B, Waizel MDV, Jávorszky E, Tory K, Maka E, Amini M, Suiwal S, Stachon T, Szentmáry N.   +13 more
europepmc   +1 more source

Goltz-Gorlin Syndrome: A Case Report and Literature Review. [PDF]

Cureus
Perez-Hernandez SC, Zaragoza-Navarro A, Vazquez-Cantu DL, Macías-Bueno CC, Sierra-Silva G.   +4 more
europepmc   +1 more source

A certain set of signs that could be compatible with Kabuki syndrome: a case report of an Iranian girl and review of literature. [PDF]

J Med Case Rep
Owlia F, Irannezhad M, Bahrololoomi Z, Mosallaeipour S.   +3 more
europepmc   +1 more source

Molecular and clinical heterogeneity in an Iranian case series of Joubert syndrome. [PDF]

Mol Genet Metab Rep
Khalilian S, Fathi M, Farbood Z, Dehghanian F, Masoudi M, Ghafouri-Fard S, Dastgheib SA, Miryounesi M.   +7 more
europepmc   +1 more source

Genetic Testing in the Management of Adult CKD. [PDF]

J Am Soc Nephrol
Chebib FT, Wang X, Udani SM, Westemeyer M, Clark D, Zhang Z, Bloom MS, Milo Rasouly H, Kolupaeva V, Mizani MR, Dossabhoy NR, Faravardeh A, Demko ZP, Kotte S, Punj S, Chapman SL, Rabinowitz M, Schneider R, Tabriziani H, Bhorade S, Gharavi AG, Dahl NK.   +21 more
europepmc   +1 more source

Non-Classic Cornelia de Lange Syndrome Due to <i>BRD4</i> Gene Alterations: A Literature Review. [PDF]

Children (Basel)
Lonardo F, Falco M, Costabile C, Fontana P.   +3 more
europepmc   +1 more source

Pharyngeal Arches, Chapter 3: Craniofacial Syndromes. [PDF]

J Craniofac Surg
Episalla NC, Zhang A, Mantilla-Rivas E, Shur NE, Oh HS, Barrera MC, Oh AK, Sentosa J, Boyajian MJ, Rogers GF.   +9 more
europepmc   +1 more source

The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies. [PDF]

Genes (Basel)
Chiriatti L, Priolo M, Onesimo R, Carvetta M, Leoni C, Bruselles A, Radio FC, Cappelletti C, Ferilli M, Ricci D, Niceta M, Cordeddu V, Ciolfi A, Mancini C, Zampino G, Tartaglia M.   +15 more
europepmc   +1 more source