Results 161 to 170 of about 1,759,515 (283)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Scenting parameters affect physicochemical quality, antioxidant capacity, and volatile metabolites of osmanthus white tea: an SVM-SHAP analysis. [PDF]

Food Chem X
Huang Y, Hao S, Cheng X, Shi Y, Ma C, Wu W, Wu Z.   +6 more
europepmc   +1 more source

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

Making Sense of Standardised Assessment Data: A Response to Snow et al. (2025)

Australian Journal of Social Issues, EarlyView.
ABSTRACT I write in response to the commentary by Snow et al. (2025) on the paper Are Australian students' academic skills declining? Interrogating 25 years of national and international standardised assessment data published in this journal (Larsen 2024).
Sally A. Larsen
wiley   +1 more source

‘I Used to Be Illegal and Now I'm a Priority’: A Critical Thematic Analysis of LGBTI+ Voices From the Australian Royal Commission Into Aged Care

Australian Journal of Social Issues, EarlyView.
ABSTRACT Due to historic and anticipated discrimination, engaging aged care services can see LGBTI+ older adults conceal their sexual orientation, gender identity or gender expression. Recommendations from the Australian Royal Commission into Aged Care claim to have addressed the needs of a range of diversity groups, including the needs of LGBTI+ older
Patricia Cain, Eyal Gringart, Davina Porock   +2 more
wiley   +1 more source

Laparoscopic resection-rectopexy with natural orifice specimen extraction (NOSE): In a male with recurrent internal rectal prolapse-A video vignette. [PDF]

Colorectal Dis
Arslan C, Yildirim Y, Ermec ED, Bayraktar IE.   +3 more
europepmc   +1 more source

Nose Detection Based on Quadratic Curve Fitting with Geometric–Photometric–Structural Scoring

The 7th Eurasia Conference on IoT, Communication and Engineering 2025 (ECICE 2025)
Yu-Chen Chen, Shao-Chi Kao, Jian-Jiun Ding   +2 more
openaire   +1 more source

Translation and Cross‐Cultural Adaptation of the Chronic Rhinosinusitis Control Test for Global Use

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction The Chronic Rhinosinusitis Control Test (CRCT) is a patient‐reported outcome measure (PROM) written in English that is psychometrically validated to measure chronic rhinosinusitis control. Because the availability of translated PROMs is a driver of data equity—collection of data that is fair and generally representative—our ...
Hye K. Pae, Detong Xia, Hanzhong Sun, Yudi Chen, Kwangoh Yi, Minjeong Song, Eriko Sato, Ali R. Abasi, Jody Ballah, Anna Babarczy, Raymond Bertram, Agnieszka Biernacka, Mable Chan, Teresa Civera, Irina Dubinina, Doğu Erdener, María Isabel Maldonado García, Ali Garib, Tuomo Häikiö, Fuk‐chuen HO, Li‐Yu Hung, R. Malatesha Joshi, Oksana Kanerva, Kiranpreet Kaur Baath, Björn Köhnlein, Dalibor Kučera, Paula Luegi, Yustinus Calvin Gai Mali, Sivan Medina, Stefan Milosavljević, Amna Mirza, Mohamed Y. Mwamzandi, Fatemeh Nami, Anabella‐Gloria Niculescu‐Gorpin, Portia Padilla, Georgia Panayiotou, Manuel Perea, Luciano Perondi, Hiển Phạm, Rasmus Puggaard‐Rode, Anurag Rimzhim, Sreeparna Sarkar, David L. Share, Gláucia V. Silva, Antônio R. M. Simões, Charlotte Stormbom, Titima Suthiwan, Katsuo Tamaoka, Mila Tasseva‐Kurktchieva, Paweł Urbanik, An Van, Katie M. Phillips, Ahmad R. Sedaghat   +52 more
wiley   +1 more source

Complications and Clinical Outcomes Following Modified Endoscopic Denker's With Pyriform Aperture Preservation: A Prospective Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The modified endoscopic Denker's (MED) approach provides access to all maxillary sinus (MS) walls for resection of various MS and retromaxillary pathologies, but the anteromedial maxilla has historically been resected. This study determined complication rates and outcomes following MED with pyriform aperture (PA) preservation ...
Yasser Almansour, Lane Donaldson, Khaled Kashlan, Swapna Vemuri, Jun Jin, John R. Craig   +5 more
wiley   +1 more source

Radiofrequency ablation for inferior turbinate hypertrophy in patients with rhinitis medicamentosa. [PDF]

Braz J Otorhinolaryngol
Carmel-Neiderman NN, Bilaus R, Muhanna N, Abergel A.   +3 more
europepmc   +1 more source