Results 241 to 250 of about 1,922,511 (410)

Newborn Screening for Congenital Heart Disease: A Five-Year Study in Shanghai. [PDF]

Int J Neonatal Screen
Tian Y, Gu Q, Hu X, Ge X, Ma X, Yang M, Jia P, Zhang J, Yang L, Zhao Q, Liu F, Ye M, Yang Y, Huang G.   +13 more
europepmc   +1 more source

Universal Newborn Screening for Developmental Risk

, 2000
Grace Cox Ashton
openalex   +2 more sources

Parental attitudes regarding newborn screening of PKU and DMD [PDF]

, 2003
Elizabeth Campbell, Lainie Friedman Ross
openalex   +1 more source

Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots

Genetics in Medicine, 2020
Xinying Hong, Jessica Daiker, M. Sadilek, Nicole Ruiz-Schultz, A. Kumar, Stevie Norcross, W. Dansithong, Teryn R. Suhr, M. Escolar, C. Ronald Scott, A. Rohrwasser, M. Gelb   +11 more
semanticscholar   +1 more source

EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways

Advanced Science, EarlyView.
EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Liping Chen, Ying Li, Yan Yu, Mingze Cai, Hao Li, Minghe Huang, Guochao Yang, Jiageng Guo, Huailin Wang, Zhihong Song, Wei Shen, Huihui Jiang, Haitao Wu   +12 more
wiley   +1 more source

Expanded Newborn Screening in Italy: The First Report of Lombardy Region. [PDF]

Int J Neonatal Screen
Berardo C, Vasco A, Mauri A, Lucchi S, Cappelletti L, Saielli L, Rizzetto M, Biganzoli D, Montrasio C, Postorivo D, Pratiffi E, Meta A, Carelli S, Amorosi A, Paci S, Cefalo G, Furlan F, Menni F, Gasperini S, Crescitelli V, Banderali G, Zuccotti G, Alberti L, Cereda C.   +23 more
europepmc   +1 more source

Other Research -- Universal Newborn Hearing Screening: a Promise Moving Toward Achievement

, 2001
Jean L. Johnson, June Holstrum, Yusnita Weirather, Martha Guinan, Roma Johnson   +4 more
openalex   +1 more source

Cystic fibrosis newborn screening and detection of carriers [PDF]

, 2003
M Super
openalex   +1 more source

Multiscale Organization of Neural Networks in a 3D Bioprinted Matrix

Advanced Science, EarlyView.
A 3D bioprint model of primary neurons has been engineered with a millimeter‐scale functional neural network, and it recapitulates in vivo transcriptomic features under both normal and disease conditions to the greatest extent. The successful integration of mature neurons and 3D bioprinting signifies a major advance in neuroscience modeling ...
Huiyu Yang, Jiangang Zhang, Yiran Li, Zihan Zhong, Wenhua Li, Haojun Luo, Yanyong Liu, Liujian Ouyang, Zhuoran Jiang, Yuning Sun, Hang Sun, Lulu Liu, Huayu Yang, Yu Wang, Nan Yang, Wenbin Ma, Yilei Mao   +16 more
wiley   +1 more source

Correction to: Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID. [PDF]

J Clin Immunol
Goebel GA, Cunha LAO, Minafra FG, Pinto JA.   +3 more
europepmc   +1 more source