Results 91 to 100 of about 3,407 (171)

Contrasting Relationships Between Anxiety and Intolerance of Uncertainty in Cornelia de Lange and Fragile X Syndromes. [PDF]

J Intellect Disabil Res
Smith K, Perry V, Groves L, Moss J, Oliver C, Knight E, Patterson T, Rodgers J, Waite J, Crawford H.   +9 more
europepmc   +1 more source

Aberrant Splicing From an HDAC8 Intronic Variant c.112-15C>A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous Individuals. [PDF]

Congenit Anom (Kyoto)
Kuroda Y, Nagai K, Saito Y, Shimokaze T, Aida N, Satake T, Naruto T, Kurosawa K.   +7 more
europepmc   +1 more source

P257: Sleep correlates of behavior functioning in Cornelia de Lange syndrome

Genetics in Medicine Open
Rowena Ng, Julia O’Connor, Deirdre Summa, Antonie Kline   +3 more
doaj   +1 more source

Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome. [PDF]

Sci Rep
Gil-Salvador M, Trujillano L, Lucia-Campos C, Del Rincón J, Pamplona P, Arnedo M, Puisac B, Marcos-Alcalde Í, Gómez-Puertas P, Ramos FJ, Pié J, Latorre-Pellicer A.   +11 more
europepmc   +1 more source

Case Report: A novel intronic variant of <i>NIPBL</i> gene detected in a child with cornelia de lange syndrome. [PDF]

Front Genet
Shao XT, Dai YX, Zhao YF, Chen YH, Ying LJ.   +4 more
europepmc   +1 more source

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome. [PDF]

Hum Mutat
Ansari M, Halachev M, Parry D, Campos JL, D'Souza EN, Barnett C, Wilkie AOM, Barnicoat A, Patel CV, Sukarova-Angelovska E, Girisha KM, Firth HV, Prescott K, Wilson LC, McEntagart M, Davidson R, Lynch SA, Joss S, Holden ST, Lam WK, Sisodiya SM, Green AJ, Poke G, Whiffin N, FitzPatrick DR, Meynert A.   +25 more
europepmc   +1 more source

Maxillary Sinus Angiosarcoma in Cornelia de Lange Syndrome: A Case Report and Review of the Literature. [PDF]

Cureus
Kondapaneni R, Florence K, Dooley L, Garrett F.   +3 more
europepmc   +1 more source

Dysphagia and Body Composition in Cornelia de Lange Syndrome. [PDF]

Biomedicines
Mędza A, Cieszko A, Gliwa M, Brzeziński M, Wierzba J, Szlagatys-Sidorkiewicz A, Sznurkowska K.   +6 more
europepmc   +1 more source

Cornelia de Lange Syndrome Accompanied by Cholelithiasis and Nephrolithiasis: A Case Report. [PDF]

Children (Basel)
Choi SY, Hong YR, Oh CE, Lee JH.
europepmc   +1 more source

Genome Instability and Senescence Are Markers of Cornelia de Lange Syndrome Cells. [PDF]

Cells
Di Nardo M, Krantz ID, Musio A.
europepmc   +1 more source