Results 181 to 190 of about 115,482 (301)

Harlequin Ichthyosis in a Preterm Neonate: A Rare Case Report. [PDF]

Clin Case Rep
Ali T, Javaid MH, Siddique MW, Abebe HT, Ul Haq I, Ali E, Ali Z, Afridi NA, Iqbal M.   +8 more
europepmc   +1 more source

A Spatiotemporal Single‐Cell Atlas Uncovers Dysregulated ECM Dynamics and Septal Remodeling Arrest in Human Ventricular Septal Defects

Advanced Science, EarlyView.
Integrating single‐cell and spatial transcriptomics reveals human ventricular septal defect (VSD) as a disease of microenvironmental insufficiency and structural remodeling arrest. Attenuated endothelial‐fibroblast crosstalk, alongside downregulated THBS1/TGF‐β1 and MMP2 signaling networks, impairs the endothelial‐to‐mesenchymal transition (EndoMT) and
Xiaoyuan Zhang, Lun Zhu, Ze Sun, Ruolin Jia, Ziming Wang, Jiayao Zhao, Bohao Liu, Haiqing Xiong, Xiaowei Yu, Yanzhu Yue   +9 more
wiley   +1 more source

Homozygosity Accumulated Through Genetic Drift and Inbreeding Underpins High Mutation Load in an Endangered Beluga Whale Population. [PDF]

Mol Ecol
Orton RW, Müller C, Garroway CJ, Ferguson SH, Michaud R, Frasier TR.   +5 more
europepmc   +1 more source

An Adenoviral‐Vectored Tp0326 Vaccine Elicits Robust Functional Antibodies to Prevent Treponema pallidum Dissemination in a Rabbit Model

Advanced Science, EarlyView.
Vaccination promotes cellular infiltration into primary lesions and effectively inhibits T. pallidum dissemination to distal organs. Notably, transfer of lesion tissue from immunized animals fails to establish infection in naive recipients, confirming specific protective immunity.
Yinbo Jiang, Xinyuan Li, Lixia Huang, Xiangcai Zhang, Wujian Ke   +4 more
wiley   +1 more source

Late-onset group B streptococcal septic arthritis in an afebrile neonate: a case report. [PDF]

Front Pediatr
Akar A.
europepmc   +1 more source

Correction: Trifid epiglottis in a neonate with choanal atresia and hydrometrocolpos: the third reported case and the first symptomatic neonatal presentation. [PDF]

BMC Pediatr
Khorashadizadeh M, Doostparast A, Sabahi MA, Ghahremani S.   +3 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Mandibular Fracture in A 12-Hour-Old Neonate: Successful Conservative Management With Excellent Long-Term Functional and Craniofacial Growth Outcomes. [PDF]

Clin Case Rep
Guthua S, Twahir W, Sarna K, Sonigra K, Kabutu J.   +4 more
europepmc   +1 more source

The neonatal eye [PDF]

Eye, 1992
openaire   +2 more sources

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source