Results 291 to 300 of about 178,713 (349)

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Whole-exome sequencing study of opioid dependence offers novel insights into the contributions of exome variants. [PDF]

Transl Psychiatry
Wang L, Nuñez YZ, Martínez-Magaña JJ, Rivera-Hernandez M, Mao Z, Brennand KJ, Montalvo-Ortiz JL, Kranzler HR, Gelernter J, Zhou H.   +9 more
europepmc   +1 more source

Whole exome sequencing and single-cell DNA sequencing for assessment of clonal heterogeneity and evolution in acute myeloid leukemia. [PDF]

Comput Struct Biotechnol J
Adhikari S, Eldfors S, Pitkänen E, Vähä-Koskela M, Heckman CA.   +4 more
europepmc   +1 more source

Prenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe prenatal imaging findings and postnatal outcomes in fetuses diagnosed with saccular forms of closed spinal dysraphism (CSD). Methods This retrospective single‐centre study included fetuses diagnosed with non‐genetic, non‐syndromic CSD between January 2018 and June 2023.
Yada Kunpalin, Jennifer Quon, Abby Varghese, Michael Chua, Samer Maher, Abhaya V. Kulkarni, Tim Van Mieghem, Shiri Shinar, Elka Miller   +8 more
wiley   +1 more source

Whole-exome sequencing reveals GRHPR gene mutation in a 4-year-old girl with chronic kidney disease: a case report. [PDF]

Ann Med Surg (Lond)
Farooq B, Qureshi ZH, Lodhi MS, Faisal M, Khan E, Khalid M.   +5 more
europepmc   +1 more source

GENOMIC DIVERSITY AND ANCESTRY OF ADMIXED PATIENTS WITH HEMOPHILIA A AND INHIBITORS: INSIGHTS FROM WHOLE EXOME SEQUENCING IN THE BRAZILIAN IMMUNE TOLERANCE (BRAZIT) STUDY

HP Santanna, Rafael Tou, RM Camelo, Lucas Faria, MM Dias, José Maurício Barbanti Duarte, Renan P. Souza, LW Zuccherato, Eduardo José Melo dos Santos, S. M. Rezende   +9 more
openalex   +1 more source

Prenatal trio-based whole exome sequencing in fetuses with congenital pulmonary airway malformation. [PDF]

Transl Pediatr
Yu Q, Chen J, Li H, Xue J, Meng C, Hong H, Qin W, Chen C.   +7 more
europepmc   +1 more source

Ethnic genomic differences in esophageal squamous cell carcinoma: Whole-exome sequencing of Han and Kazakh populations in China. [PDF]

World J Gastroenterol
Wei MX, Lei LL, Xu RH, Liu YX, Wang R, Han WL, Fan ZM, Xiao FK, Sheyhidin I, Ma L, Ku JW, Yin MZ, Ji AF, Bao QD, Gao SG, Han XN, Li XM, Chen PN, Zhao XK, Song X, Wang LD.   +20 more
europepmc   +1 more source

Genetic Characterization of 128 Chinese Individuals with Neurodevelopmental Disorders via Whole-Exome Sequencing.

Dev Neurosci
Qin Y, Cao H, Liu L, Yi M, Wang T, Zeng L, Wang X, Xu R, Zhang C, Li H, Song J.   +10 more
europepmc   +1 more source

Hemoglobin suresnes combined with α⁰-thalassemia: Diagnostic challenges and insights from trio-based whole exome sequencing. [PDF]

Ann Hematol
Liu HL, Huang WT.
europepmc   +1 more source