Results 221 to 230 of about 127,509 (268)

When exome analysis is the key for your patient with cognitive decline: a case report. [PDF]

Dement Neuropsychol
Mendes AA, da Silva IF, Uchoa DS, de Oliveira IC, de Freitas JL, Rocha MSG, Brucki SMD.   +6 more
europepmc   +1 more source

Ovarian Cancer: Epidemiology, Disease Mechanisms, New Diagnosis and Treatment Strategies, and Research Directions

iNew Medicine, EarlyView.
ABSTRACT Ovarian cancer (OC) continues to be the deadliest gynecological malignancy and a significant cause of cancer‐related mortality among women worldwide. Standard treatment strategies typically entail platinum‐based chemotherapy in conjunction with cytoreductive surgery.
Zunera Khalid, Weirong Fan, Farah Nazir, Yixiang Xing, Tengchuan Jin   +4 more
wiley   +1 more source

Case report: Whole-exome sequencing reveals a novel variant in a patient with epilepsy presenting with fever. [PDF]

Front Genet
Guo W, Song D, Cheng K, Wang C, Wang Y, Yang X, Lin Y, Jiang X, Liu X, Lan L.   +9 more
europepmc   +1 more source

Unexpected perinatal death caused by an occult MTM1 mutation: a case report. [PDF]

Front Med (Lausanne)
Zhu MM, Li DM, Wu YC, Yao Q, Qie MR, Sun WW.   +5 more
europepmc   +1 more source

Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders. [PDF]

Clin Exp Pediatr
Lee KS, Oh SH, Lee JY, Seo GH, Roh DE, Park JK, Lee BL.   +6 more
europepmc   +1 more source

Familial Tooth Agenesis in Lebanese Patients: Clinical Characterization and Whole-Exome Identification of Rare CACNA2D2 and TRIO Variants. [PDF]

Cureus
Nabbout F, El Hajj J, Badran B, Ghassibe M.   +3 more
europepmc   +1 more source

Somatic mutations in endometrial epithelium: biological insights and emerging in vitro models. [PDF]

Mol Hum Reprod
Subramaniam S, Gargett CE, Fitzgerald HC, Montgomery GW, McKinnon B.   +4 more
europepmc   +1 more source

Leveraging Whole-Exome Sequencing to Decipher the Genetic Landscape of Three Genodermatoses' Cases in Middle Eastern Pediatric Patients. [PDF]

Genes (Basel)
Kadhi A, Akl PA, Abbas O, El-Tayar E, Nemer G, Kurban M.   +5 more
europepmc   +1 more source

Prenatal exome sequencing

, 2022
Sproule, Cathryn, Mone, Fionnuala; id_orcid 0000-0002-0718-7547   +1 more
openaire   +1 more source