Results 321 to 330 of about 907,938 (379)

How far are we from the era of big data in transcriptomics? Lessons from the bacterial data in GEO. [PDF]

Brief Bioinform
Escobedo-Muñoz AS, Carmona-Campos D, Trapaga AGG, Freyre-González JA.   +3 more
europepmc   +1 more source

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds, Jeanne M. Pimenta, Andrea Low, Deepali Mittal, Smeet Gala, Digant Gupta   +5 more
wiley   +1 more source

Noncoding and coding mechanisms of aging-related heart failure with preserved ejection fraction associated with thyroid dysfunction.

Dis Model Mech
Chakraborty S, Sloan O, Dickerson B, Chakraborty G, Li S, Bounds C, Lemus S, Hickman C, Calabrese JM, Rajagopalan V.   +9 more
europepmc   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

46,XY/46,XY Chimerism: Prenatal Presentation and Postnatal Outcome. [PDF]

Mol Genet Genomic Med
Baqri W, Goh ES, Berndl A, Seesahai J, Skidmore M, Vaags AK, Kekis M.   +6 more
europepmc   +1 more source

Determination of target genes for classified molecular subtypes of triple-negative breast cancer form microarray gene expression profiling: An integrative in silico approach

Manisha Ray, Suranjana Banik, Mukund Sable   +2 more
openalex   +1 more source

Response to the Comment on “Development and Validation of a Machine Learning‐Based Marker for Early Detection and Prognosis Stratification of Nonalcoholic Fatty Liver Disease”

Advanced Science, EarlyView.
Lushan Xiao, Lin Zeng, Jiaren Wang, Chang Hong, Li Liu   +4 more
wiley   +1 more source

N-glycosylation at the receptor binding site drives differences in receptor binding specificity between influenza B virus lineages. [PDF]

J Virol
Page CK, Mubassir MHM, Chopra P, Gay LC, Geiger G, Ray SD, Shepard JD, Miller RJ, Perez D, Bahl J, Boons GJ, Tompkins SM.   +11 more
europepmc   +1 more source

Miniaturization of a colorimetric cellulase activity assay on a microfluidic sensor platform. [PDF]

RSC Adv
Hengge E, Khumwan P, Mora-Sanz V, Conde AJ, O'Sullivan C, Rodriguez A, Hennigs C, Smolka M, Briz N, Nidetzky B.   +9 more
europepmc   +1 more source

<i>CBFB::MYH11</i> Fusion Located on a Supernumerary Ring Chromosome 16 in Pediatric Acute Myeloid Leukemia: Diagnostic Challenges and Prognostic Implications. [PDF]

Genes (Basel)
Xia C, Acquazzino M, Althof PA, Nelson M, Harris RA, Spaulding JR, Khoury JD, Tang Z.   +7 more
europepmc   +1 more source