Results 111 to 120 of about 3,407 (171)

Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda. [PDF]

BMC Med Genomics
Uwibambe E, Yalcouyé A, Aboagye ET, Xhakaza L, Popel K, Dukuze N, Bharadwaj T, de Kock C, Schrauwen I, Leal SM, Mutesa L, Wonkam A.   +11 more
europepmc   +1 more source

A De Novo Frameshift Variant in SMC1A Causes Non-Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
Yang Y, Chen L, Wang Z, Ding Y, Liu Y.
europepmc   +1 more source

[The Cornelia de Lange syndrome].

Srpski arhiv za celokupno lekarstvo, 2000
N M, Cerovac-Cosić, N S, Jović, D N, Vranjesević, P M, Ignjatović   +3 more
openaire   +1 more source

Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome. [PDF]

Mol Genet Genomic Med
Lei Z, Song X, Zheng X, Wang Y, Wang Y, Wu Z, Fan T, Dong S, Cao H, Zhao Y, Xia Z, Gao L, Shang Q, Mei S.   +13 more
europepmc   +1 more source

Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an <i>ANKRD11</i> Gene Variant. [PDF]

Mol Syndromol
Çetinkaya D, Altan M, Ceylan AC, Kılıç E.   +3 more
europepmc   +1 more source

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

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