Results 281 to 290 of about 2,441,241 (423)

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023
Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow   +21 more
wiley   +1 more source

The challenges of stillness: a longitudinal study about the associations between mothers' violations of the still-face, infant patterns of regulatory behavior, mother-infant interactive behavior, and infant attachment. [PDF]

BMC Psychol
Fuertes M, Barbosa M, Gonçalves J, Beeghly M.   +3 more
europepmc   +1 more source

PRACTICAL STUDY OF GOAT'S MILK IN INFANT FEEDING AS COMPARED TO COW'S MILK [PDF]

, 1914
DeWITT H. SHERMAN
openalex   +1 more source

Cancer Specific CAIX‐Targeting Supramolecular Lysosome‐Targeting Chimeras (Supra‐LYTAC) for Targeted Protein Degradation

Advanced Science, EarlyView.
Spatiotemporal Supra‐LYTAC formation near cancerous membrane via CAIX‐targeting is achieved. As a result of generation of Supra‐LYTAC, POI trafficking into lysosome is significantly implemented for targeted protein degradation. Abstract Recently, targeted protein degradation (TPD) strategies have emerged as a promising solution to tackle undruggable ...
Dohyun Kim, Gyeongseok Yang, Chaelyeong Lim, Gaeun Park, Jaemo Lee, Youjung Sim, Ja‐Hyoung Ryu   +6 more
wiley   +1 more source

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 479-489, February 2023., 2023
Abstract To optimize care for children with Marfan syndrome (MFS) in the Netherlands, Dutch MFS growth charts were constructed. Additionally, we aimed to investigate the effect of FBN1 variant type (haploinsufficiency [HI]/dominant negative [DN]) on growth, and compare MFS‐related height increase across populations.
Peter Lauffer, Gerard Pals, Aeilko H. Zwinderman, Floor A. M. Postema, Marieke J. H. Baars, Eelco Dulfer, Yvonne Hilhorst‐Hofstee, Arjan C. Houweling, Marlies Kempers, Ingrid P. C. Krapels, Ingrid M. B. H. van de Laar, Bart Loeys, Alexander M. J. Spaans, Jessica Warnink‐Kavelaars, Vivian de Waard, Jan M. Wit, Leonie A. Menke   +16 more
wiley   +1 more source

Why do babies cry? Exploring the role of the gut microbiota in infantile colic, constipation, and cramps in the KOALA birth cohort study. [PDF]

Gut Microbes
Barnett D, Thijs C, Mommers M, Endika M, Klostermann C, Schols H, Smidt H, Nauta A, Arts I, Penders J.   +9 more
europepmc   +1 more source

Bio‐Inspired Optoelectronic Neuromorphic Device Based on 2D vdW Ferroelectric Heterostructure for Nonlinearly Preprocessing Visual Information and Convolutional Operation

Advanced Electronic Materials, EarlyView.
For achieving nonlinear preprocessing of visual information analogous to the retina and convolutional operations in the visual cortex at single device level, a three‐terminal 2D vdW ferroelectric heterojunction is proposed. The results shed light on integrating diverse bio‐inspired visual functions in optoelectronic neuromorphic devices for the benefit
Feng Guo, Weng Fu Io, Zhaoying Dang, Yuqian Zhao, Sin‐Yi Pang, Yifei Zhao, Xinyue Lao, Jianhua Hao   +7 more
wiley   +1 more source

The Changing Epidemiology of Sudden Infant Death Syndrome: A 15-Year Overview Comparing Italian and European Data. [PDF]

Health Sci Rep
Manfredini M, Perrone S, Ardenghi A, Lavezzi AM, Beretta V, Scarpa E, Moretti S, Esposito SMR, Filonzi L, Marzano FN.   +9 more
europepmc   +1 more source

Flash‐Thermal Reduction of Graphene Oxide with Flexible Electronics Platform for Highly Sensitive Wearable Temperature Sensor

Advanced Electronic Materials, EarlyView.
In this study, by employing the flash‐thermal reduction (FTr) technique, the reduction degree of the graphene oxide (GO) with systematic analyses of conductivity and material stability is precisely adjusted. The optimized FTrGO‐based sensor exhibits exceptional flexibility, reversibility, high sensitivity (≈1.28% °C−1), excellent linearity (R2 ≈ 0.999),
Yeong Jun Yun, Hyun Jin Kang, Chan Yun Bae, Gyu Heon Bae, Hyun Jin Lee, Ki Hoon Kim, Yeong Jun Jang, Tae Won Nam, Jung Woo Lee   +8 more
wiley   +1 more source

Investigation of nitrate and nitrite in commercially available infant formulas and baby foods in Iran and estimation of human health risks. [PDF]

Sci Rep
Taghavi M, Abedi A, Alami A, Qasemi M, Zarei A.   +4 more
europepmc   +1 more source