Results 171 to 180 of about 489,914 (273)

Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT MRPS22‐related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis ...
Liana N. Semcesen, Megan Ball, Daniella H. Hock, Juliet Kaye, Aimee Woods, Lucas De Jong, MitoMDT Diagnostic Network for Genomics and Omics, David R. Thorburn, Aleksandra Filipovska, Michael T. Ryan, David A. Stroud, Diana Stojanovski, David Coman, Sean Murray, Ryan L. Davis, John Christodoulou, Suzanne C. E. H. Sallevelt, Roula Ghaoui, Cas Simons, Stefan J. Siira, Shanti Balasubramaniam, Alison G. Compton, Daniel G. MacArthur, Nicole J. Lake, Drago Bratkovic, Joy Lee, Maina Kava, Amanda Samarasinghe, Yoni Elbaum, Catherine Atthow, Pauline McGrath, Tegan Stait, Rocio Rius, Liana N. Semcesen, Megan Ball, Daniella Hock, Luke E. Formosa, Ellenore M. Martin, Madeleine Harris, John Christodoulou, David R. Thorburn, Alison G. Compton, David A. Stroud, Jan Liebelt   +43 more
wiley   +1 more source

A standardized framework for dietary intake data: implementation and monitoring of the 24-hour dietary recalls in the PROVEN-DIA trial. [PDF]

Front Nutr
Fogaça AL, Ostolin TLVDP, Pagano R, Santana ABN, Fonseca DC, Oliveira LT, Alves BS, Bersch-Ferreira ÂC.   +7 more
europepmc   +1 more source

Clinical and Neurodevelopmental Course in a Case of EFNB1‐Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
A 14‐year‐old individual presented with an uncorrected bicoronal craniosynostosis that was diagnosed during clinical examination. She had craniofrontonasal syndrome (CFNS) with facial dysmorphology, microcephaly, and mild intellectual disability. Her CFNS was explained by a likely pathogenic variant in EFNB1.
Dominique L. Assing, Danielle E. Jolly, Sarah Gluschitz, Beverly Nelson, Dong Li, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Andrew K. Sobering   +7 more
wiley   +1 more source

Digital vs. Direct Anthropometry with MetiSmile^® 3D Face Scanner: A Validation and Reliability Study on a Mannequin Model. [PDF]

Craniomaxillofac Trauma Reconstr
De Crem A, Bogaert C, Piccart F, Ureel M, Denoiseux B, De Kock L, Brands M, Lenssen O, Coopman R.   +8 more
europepmc   +1 more source

Identifying the Initiation of a New Line of Therapy for Metastatic Lung, Breast, and Colorectal Cancer in Real‐World Data: A Scoping Review

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 5, May 2026.
ABSTRACT Purpose This study aimed to identify and synthesize published algorithms for identifying the initiation of a new line of therapy (LOT) for metastatic lung, breast, and colorectal cancer in real‐world data (RWD). Methods We conducted a scoping review of published, English‐language studies describing algorithms for identifying any LOTs with ...
Oluwadamilola Onasanya, Seyed Hamidreza Mahmoudpour, Benjamin Bates, Irene M. Shui, Geoffrey Liu, Eng Hooi Tan, Yi‐Hsin Yang, Maribel Salas, Joseph Fadare, Dimitri Bennett, Paula Lana de M. Drummond, Judy Ju‐Young Shin, Sonia Guleria, Jocelyn R. Wang, Manila Hada, Helene Denis, Soko Setoguchi, Ilse Truter, Luciane C. Lopes, Ruth Wangia Dixon   +19 more
wiley   +1 more source

Identification of Serum BST1 as a Biomarker to Predict Coronary Artery Lesions in Children with Kawasaki Disease Based on 4D-DIA Quantitative Proteomics. [PDF]

J Inflamm Res
Zhang S, Huang J, Zhang M, Zhao C, Wu W, Chen W.   +5 more
europepmc   +1 more source

Birth Prevention Facts: By an Outstanding Obstetrician [PDF]

, 1943
Good, Frederick L.
core   +1 more source

Twenty years of BRCA1 and BRCA2 molecular analysis at MMCI : current developments for the classification of variants [PDF]

, 2019
Claes, Kathleen, Foretova, L, Hazova, J, Machackova, E, Mikova, M, Navratilova, M, Stahlova Hrabincova, E, Svoboda, M, Trbusek, M, Vasickova, P   +9 more
core   +2 more sources

Proteomic Analysis of Cervicovaginal Fluid for Diagnostic Endometriosis Biomarker Discovery

PROTEOMICS – Clinical Applications, Volume 20, Issue 3, May 2026.
ABSTRACT Purpose Endometriosis is a prevalent inflammatory condition characterised by the presence of endometrial‐like tissue outside the uterus and is associated with significant challenges, including diagnostic delays and continued reliance on laparoscopy.
Emily S. J. Paterson, Simon Scheck, Torsten Kleffmann, Roopi Gill, Nicholas Bedford, Simon McDowell, Jane E. Girling, Claire E. Henry   +7 more
wiley   +1 more source

Factors Influencing the Use of G-CSF in Drug-Induced Agranulocytosis. [PDF]

Hematol Rep
Andrès E, Terrade JE, Jannot X, Lorenzo-Villalba N.   +3 more
europepmc   +1 more source