Results 141 to 150 of about 60,147,798 (196)

Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome. [PDF]

Cureus
Trujillano L, Ayerza-Casas A, Puisac B, Latorre-Pellicer A, Arnedo M, Lucia-Campos C, Gil-Salvador M, Parenti I, Kaiser FJ, Ramos FJ, Trujillano J, Pié J.   +11 more
europepmc   +1 more source

[Cornelia de Lange syndrome].

Lijecnicki vjesnik, 1974
M, Juretić, O, Beleznay, M, Gazdik
openaire   +1 more source

Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype. [PDF]

Mol Genet Genomic Med
Seymour H, Feben C, Nevondwe P, Kerr R, Spencer C, Mudau M, Honey E, Lombard Z, Krause A, Carstens N.   +9 more
europepmc   +1 more source

Clinical Characteristics, Genetic Analysis, and Literature Review of Cornelia de Lange Syndrome Type 4 Associated With a RAD21 Variant. [PDF]

Mol Genet Genomic Med
Yue X, Chen M, Ke X, Yang H, Gong F, Wang L, Duan L, Pan H, Zhu H.   +8 more
europepmc   +1 more source

Advancing the Clinical and Molecular Understanding of Cornelia de Lange Syndrome: A Multidisciplinary Pediatric Case Series and Review of the Literature. [PDF]

J Clin Med
Gruca-Stryjak K, Doda-Nowak E, Dzierla J, Wróbel K, Szymankiewicz-Bręborowicz M, Mazela J.   +5 more
europepmc   +1 more source

Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome. [PDF]

Front Genet
Bestetti I, Crippa M, Sironi A, Bellini M, Tumiatti F, Ballabio S, Ceriotti F, Memo L, Iascone M, Larizza L, Finelli P.   +10 more
europepmc   +1 more source

Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS). [PDF]

Pediatr Rheumatol Online J
Boiu S, Paschalidis N, Sentis G, Manolakou T, Nezos A, Gialitakis M, Grigoriou M, Atsali E, Giorgi M, Ntinopoulos A, Mavragani C, Makrythanasis P, Boumpas DT, Banos A.   +13 more
europepmc   +1 more source

[Cornelia de Lange syndrome].

Medicinski pregled, 1968
V, Nikolić, L, Nikolić
openaire   +1 more source

[Cornelia de Lange's syndrome].

Pediatria polska, 1970
L, Dudkowski, K, Barta, I, Rudnik
openaire   +1 more source