Results 171 to 180 of about 8,343 (220)

Correlation between 22q11.2 deletion syndrome phenotype and deletion location: a meta-analysis. [PDF]

Arch Gynecol Obstet
Li J, Wang R, Liu L, Zhao J, Zhao Y, Liu F, Zhu M, Feng C, Zhao Y.   +8 more
europepmc   +1 more source

Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report. [PDF]

BMC Med Genomics
Kasmi Z, Ain El Hayat I, Aadam Z, Errami A, Benhsaien I, El Bakkouri J, Ben Sabbahia D, Atrassi M, Bousfiha AA, Ailal F.   +9 more
europepmc   +1 more source

Case Report: From imaging to genetics: a case of congenital restrictive strabismus with SEOM expands the 22q11.2 duplication syndrome phenotype. [PDF]

Front Med (Lausanne)
Wei X, Gao R, Xie R.
europepmc   +1 more source

Highly demarcated structural alterations in the brain and impaired social incentive learning in Tbx1 heterozygous mice. [PDF]

Mol Psychiatry
Hiramoto T, Sumiyoshi A, Kato R, Yamauchi T, Takano T, Kang G, Esparza M, Matsumura B, Stevens LJ, Hiroi YJ, Tanifuji T, Ryoke R, Nonaka H, Machida A, Nomoto K, Mogi K, Kikusui T, Kawashima R, Hiroi N.   +18 more
europepmc   +1 more source

Spectrum of Copy Number Variants in Fetal Congenital Heart Disease and Their Clinical Implications: A Retrospective Study from a Tertiary Care Center. [PDF]

Diagnostics (Basel)
Cai M, Lin N, Fu M, Que Y, Zheng M, Xu L, Huang H.   +6 more
europepmc   +1 more source

Ccar1 prevents β-catenin nuclear translocation to sustain ground-state pluripotency in mouse ESCs under R2i. [PDF]

Biochem Biophys Rep
Taleahmad S, Abbasinia H, Samadian A, Molamohammadi S, Baharvand H.   +4 more
europepmc   +1 more source

Logic-based modeling of biological networks with Netflux. [PDF]

PLoS Comput Biol
Clark AP, Chowkwale M, Paap A, Dang S, Saucerman JJ.   +4 more
europepmc   +1 more source

Diagnostic value of karyotyping, CMA/CNV-seq, and WES in fetuses with thickened nuchal translucency: perinatal and two-year follow-up outcomes. [PDF]

BMC Med Genomics
Wang M, Ji Y, Xu Y, Sun S, Yang X, Sun L, Wu Q.   +6 more
europepmc   +1 more source

OTX2 expression contributes progression of gastric cancer in young adults. [PDF]

Sci Rep
Zhai J, Lyu T, Guo Y, An Y, Xiang Y, Xie L, Zeng C.   +6 more
europepmc   +1 more source

Falcarindiol promotes beige adipocyte-related gene expression and mitochondrial respiration in human preadipocyte-derived adipocytes. [PDF]

Cytotechnology
Takahashi S, Okaze H, Kawamoto S.
europepmc   +1 more source