Results 131 to 140 of about 60,147,798 (196)

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype. [PDF]

Front Genet
Lucia-Campos C, Parenti I, Latorre-Pellicer A, Gil-Salvador M, Bestetti I, Finelli P, Larizza L, Arnedo M, Ayerza-Casas A, Del Rincón J, Trujillano L, Morte B, Pérez-Jurado LA, Lapunzina P, Leitão E, Beygo J, Lich C, Kilpert F, Kaya S, Depienne C, Kaiser FJ, Ramos FJ, Puisac B, Pié J.   +23 more
europepmc   +1 more source

ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome. [PDF]

Proc Natl Acad Sci U S A
Liu H, Li H, Cai Q, Zhang J, Zhong H, Hu G, Zhao S, Lu Y, Mao Y, Lu Y, Yao H, Zhang M.   +11 more
europepmc   +1 more source

Sinusitis-associated ischemic stroke in an adolescent patient with Cornelia de Lange syndrome. [PDF]

Radiol Case Rep
Yamataka M, Tsutsumi S, Sugiyama N, Ueno H, Ishii H.   +4 more
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

A Nine-Year-Old Girl With Cornelia de Lange Syndrome: A Case Report and Review of the Literature. [PDF]

Cureus
Bahari H, Zahiri H, Elouali A, Rkain M, Babakhouya A.   +4 more
europepmc   +1 more source

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

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

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