Results 191 to 200 of about 43,400 (289)

Refining the Vertebrate Mitochondrial 12S rRNA Secondary Structure by Comparative Analysis

Integrative Zoology, EarlyView.
This flowchart outlines the comprehensive workflow of the study, integrating diverse bioinformatics tools (e.g., NCBI2GO, SSU‐align, bpRNA) and their sequential interactions. Key steps, such as data preprocessing, structural prediction, and evolutionary analysis, are depicted with their respective outputs (e.g., standardized records, consensus ...
Fengxia Li, Gengyun Niu, Renzeng Du, Kun Wan, David Roy Smith, Meicai Wei, Haihe Shi   +6 more
wiley   +1 more source

A Novel PPP1R12A Splice‐Site Variant Identified in a Female Fetus With Perineal Hamartoma

Prenatal Diagnosis, EarlyView.
Shiyu Chen, Xi Tan
wiley   +1 more source

New Results From the Pre‐Pottery Neolithic Site of Al Uyaynah, Tabuk, in Northwestern Saudi Arabia

Arabian Archaeology and Epigraphy, EarlyView.
ABSTRACT Al Uyaynah is a low sandstone mound on an alluvial plain, long known for its extensive surface remains of stone‐built circular and rectangular structures. Following test excavations in 2012, more detailed excavation was undertaken in 2016 within one of the largest rectangular stone structures.
Khalid Alasmari, Stephanie F. Piper, Kirsten Grothe, W. Derek Hamilton, Delphine Joly, Penny Bickle, Geoff Bailey   +6 more
wiley   +1 more source

Sex-Dependent Prevalence of Sagittal Skeletal, Dental Malocclusions in Romanian Orthodontic Patients: An Observational Study. [PDF]

J Clin Med
Negruțiu BM, Todor BI, Costea CP, Iurcov ROC, Vaida LL, Lucan AI, Gârboan RL, Pusta CJ, Rus M, Staniș CE.   +9 more
europepmc   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

A rare cause of neonatal respiratory distress: Jeune syndrome. [PDF]

Radiol Case Rep
El Aouadi S, Bahha S, Taibi O, Bouanane R, Allali N, Chat L, El Haddad S.   +6 more
europepmc   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, Volume 104, Issue 5, Page 510-516, August 2026.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Tracing Identity in a Fragmented Past: Multi‐Proxy Analysis of Human Skeletal Remains From Dungowan Creek, New South Wales, Australia

Archaeometry, EarlyView.
ABSTRACT Human skeletal remains constitute critical archaeological evidence for reconstructing past societies, yet their investigation requires careful ethical, cultural, and legislative consideration. This paper reports on the discovery, recovery and analysis of a set of skeletal remains encountered during a cultural heritage management (CHM ...
Antonella Skepasianos, Cameron Neal, Sarah Croker, Anthony Dosseto, Michelle Fermor, Steve Talbott, Warren Mayers, Joel Mason, Florian Dux, Luke Kirkwood, Pamela Kottaras, Alan N. Williams   +11 more
wiley   +1 more source

Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype. [PDF]

Appl Clin Genet, 2018
Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D.   +4 more
europepmc   +1 more source

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, EarlyView.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source