Results 101 to 110 of about 1,020 (134)

Overcoming diagnostic delays in Cornelia De Lange syndrome: the power of AI-driven genomics. [PDF]

Ann Med Surg (Lond)
Saleh Dahri S, Asadullah S, Talha M, Shamim L, Imran SB.   +4 more
europepmc   +1 more source

Evidence of spontaneous mentalizing in children with Cornelia de Lange and fragile X syndromes, but not autistic children. [PDF]

Oxf Open Neurosci
Ellis K, Moss J, Dziwisz M, Jones B, Griva C, Pendered S, Perry RC, White SJ.   +7 more
europepmc   +1 more source

14. 先天性十二指腸閉鎖症を合併したCornelia-de Lange syndrome (CDLS)の4例(第40回日本小児外科学会近畿地方会)

Journal of the Japanese Society of Pediatric Surgeons, 2005
openaire   +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

Two Years of Growth Hormone Therapy in a Child with Severe Short Stature Due to Overlap Syndrome with a Novel SETD5 Gene Mutation: Case Report and Review of the Literature. [PDF]

Genes (Basel)
Luppino G, Wasniewska M, Pepe G, Morabito LA, Briuglia S, Moschella A, Franchina F, Lugarà C, Aversa T, Corica D.   +9 more
europepmc   +1 more source

Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers' and Fathers' Perspectives. [PDF]

Behav Sci (Basel)
Del Rincón J, Trujillano L, Lucia-Campos C, Xiang I, Latorre-Pellicer A, Puisac B, Arnedo M, Gil-Salvador M, Acero L, Pamplona P, Ayerza-Casas A, Ramos FJ, Pié J.   +12 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

Clinical and genetic characteristics associated with dual-positive gene variations. [PDF]

Front Neurosci
Wang L, Shi J, Yin X, Qiao P, Li F, Feng W.   +5 more
europepmc   +1 more source

Linking Genotype to Clinical Features in <i>SMC1A</i>-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive Review. [PDF]

Genes (Basel)
Astorino MF, Speranza D, Luppino G, La Rosa MA, Briuglia S, Calabrò M.   +5 more
europepmc   +1 more source