Results 201 to 210 of about 124,374 (336)

Discordant results between fetal karyotyping and non‐invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue

Prenatal Diagnosis, 2013
M. Pan, Fa-tao Li, Yan Li, F. Jiang, Dong-Zhi Li, T. Lau, C. Liao   +6 more
semanticscholar   +1 more source

Hypomethylating agents in vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS): A systematic review

British Journal of Haematology, EarlyView.
Summary VEXAS syndrome (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) is an X‐linked, systemic, haemato‐inflammatory syndrome caused by somatic mutations in the UBA1 gene. No standardized treatment guidelines exist, but evidence is emerging that treatment with hypomethylating agents (HMAs) can induce improvement of the inflammatory symptoms,
Fieke W. Hoff, Roochi Trikha, Emma M. Groarke, Bhavisha A. Patel   +3 more
wiley   +1 more source

Integration of chromosomal microarray analysis and whole-exome sequencing for prenatal diagnosis of fetuses with cardiac ultrasound anomalies. [PDF]

Front Genet
Wu Y, Chen G, Yang F, Liu X, Qiang Y, Wu R, Liu F, Cheng W, Yuan J.   +8 more
europepmc   +1 more source

Cranial morphological variation in populations of Rhipidomys Tschudi, 1845 (Rodentia, Cricetidae) in the state of Minas Gerais and description of a new karyotype

, 2020
Fernanda de Morais Côrtes
openalex   +1 more source

Comparative Karyotype Analysis Of Slugs Of The Genus Arion (Gastropoda, Pulmonata, Arionidae) [PDF]

, 2015
A. V. Harbar, Н. С. Кадлубовська, Diana Harbar   +2 more
openalex   +1 more source

Prostatic development and verumontanum in a 46,XX karyotype : An embryological paradox redefining diagnostic algorithm for testicular DSD. [PDF]

Urol Case Rep
Muhammad RY, Pitoyo J.
europepmc   +1 more source

Karyotype of the Chinese soft-shelled turtle, Pelodiscus sinensis, from Japan and Taiwan, with chromosomal data for Dogania subplana.

, 2001
Hiroyuki Sato, Hidetoshi Ota
openalex   +2 more sources

Karyotype, ploidy, and gene dosage [PDF]

, 2005
Jonathan Hodgkin
openalex   +1 more source

Prognostic impact of SNP array karyotyping in myelodysplastic syndromes and related myeloid malignancies.

Blood, 2011
R. Tiu, L. Gondek, C. O'keefe, P. Elson, J. Huh, A. Mohamedali, A. Kulasekararaj, A. Advani, R. Paquette, A. List, M. Sekeres, M. McDevitt, G. Mufti, J. Maciejewski   +13 more
semanticscholar   +1 more source

ABSTRACTS

Precision Radiation Oncology, EarlyView.
wiley   +1 more source