Results 91 to 100 of about 168,602 (136)

Case Report: Differential outcomes associated with the same pathogenic variant: long-term follow-up of a CHARGE syndrome case with a nonsense mutation c.6292C>T in the CHD gene. [PDF]

Front Genet
Wang QY, Huang JJ, Wang FC, He JW.
europepmc   +1 more source

Bilateral Macular Coloboma With Eccentric Fixation Confirmed by Microperimetry: A Case Report. [PDF]

Cureus
Tamura Y, Wakuta M, Aoki R, Mikuni M, Higashijima F, Yoshimoto T, Ohta M, Yamamoto K, Hirano S, Kimura K.   +9 more
europepmc   +1 more source

Axillary cat-scratch disease: A case report and literature review. [PDF]

Medicine (Baltimore)
Chen C, Li M.
europepmc   +1 more source

Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases. [PDF]

Clin Genet
Genç A, Sarıkaya E, Ceylan AC, Çavdarlı B, Çetin İİ, Erdoğan İ, Kılıç E.   +6 more
europepmc   +1 more source

Ophthalmic screening in phakomatoses. [PDF]

Front Cell Dev Biol
Kikani B, Stanley S, Ramasubramanian A.
europepmc   +1 more source

Trametinib for multiple non-ossifying fibromas due to KRAS mosaic mutations: two case reports. [PDF]

Commun Med (Lond)
Vincent M, Tiriau S, Fouillet-Desjonqueres M, Besson A, Ouchetto W, Barbarot S, Isidor B, Rouchaud A, Baujat G, Vabres P, Edery P, Delous M, Rossi M.   +12 more
europepmc   +1 more source

Heterozygous CECR2 variants support a distinct neurodevelopmental syndrome with features overlapping cat eye syndrome. [PDF]

HGG Adv
Acharya A, Järvelä I, Hernandez A, Rajendran Y, Bharadwaj T, Goodloe DH, Hiatt SM, Morrison J, Wheeler PG, Hunter JM, Supinger R, Hickey SE, Petersen AK, Magnussen K, Scala M, Striano P, Zara F, Leppälä J, Leal SM, Schrauwen I.   +19 more
europepmc   +1 more source

Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic Strategies. [PDF]

Int J Mol Sci
Neuhann L, Laner A, Holinski-Feder E, Neuhann T.   +3 more
europepmc   +1 more source

CHARGE Syndrome in a Six-Month-Old Male Infant: A Case Report. [PDF]

Cureus
El Ouassifi K, Douami A, Ouair H, Benhsaien I, Bousfiha A, El Bakkouri J, Salam S, Ailal F.   +7 more
europepmc   +1 more source