Results 171 to 180 of about 130,920 (262)

Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With <i>COASY</i> Protein Associated Neurodegeneration. [PDF]

JIMD Rep
Lynch M, Manoy S, Murray C, Wallace G, Pereira N, Price R, Inwood A, McGill J, Coman D.   +8 more
europepmc   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source

Single-stage surgical modification for neonatal aortic coarctation and ventricular septal defect: a case report. [PDF]

Eur Heart J Case Rep
Yang X, Xing P, Hou K, Chen R, Pan S.
europepmc   +1 more source

Soft tissue abnormalities in the congenital limb malformation radial dysplasia (RD): Their clinical impact and treatment significance

Journal of Anatomy, EarlyView.
We review the characteristic changes to the limb soft tissue and neurovascular abnormalities that have been described in the congenital limb birth defect, Radial Dysplasia. These include consistent changes in muscle anatomy or absence of specific muscles, persistent median arteries and absent radial arteries and consistent alterations in neural ...
Marco Correia Duarte, Sultan M. Al‐Zyoud, Eleanor M. Feneck, Duane James, Gillian D. Smith, Branavan Sivakumar, Malcolm P. O. Logan   +6 more
wiley   +1 more source

Poland Syndrome With Dextrocardia: A Rare Association Leading to Complex Cardiopulmonary Challenges. [PDF]

Clin Case Rep
Kommineni S, Morse A, Jekkireddy S, Ganti S, Gaddam M.   +4 more
europepmc   +1 more source

Molar‐Incisor Hypomineralisation in Children: The Essential Role of Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim Molar‐incisor hypomineralisation is a developmental enamel defect characterised by lower mineral content in the tooth's outer layer, discoloured and structurally fragile teeth that are more prone to sensitivity, breakdown and caries. This review aims to summarise current knowledge on molar‐incisor hypomineralisation and highlight key ...
Sofia Stancati, Viviana Macho, Rita Rodrigues, Cristina Cardoso Silva   +3 more
wiley   +1 more source

Isolated Congenital Hyponychia and Anonychia in a Neonate: A Rare Case. [PDF]

Cureus
Tanti S, Jhajra S, Harshini V, Kumar A.
europepmc   +1 more source

Systemic, Lifestyle and Environmental Modifying Factors in the Pathogenesis of Periodontitis

Journal of Periodontal Research, EarlyView.
A variety of impacting factors in the pathogenesis of periodontitis exist, including systemic, lifestyle, and environmental factors. This review highlights the manifold mechanistic aspects of the link between the pathogenesis of periodontitis, addressing these numerous factors to supplement the long‐standing knowledge of the progression of the disease.
Groeger Sabine Elisabeth, Zhou Yuxi, Yong Jiawen, Wang Lei, Ruf Sabine, Meyle Joerg   +5 more
wiley   +1 more source

Correction to 'BMAL1 Deficiency Promotes Skeletal Mandibular Hypoplasia via OPG Downregulation'. [PDF]

Cell Prolif
europepmc   +1 more source

Magnetic Resonance Imaging Findings in a Case of Presumed Unilateral Trigeminal Ganglion Aplasia in a 3-Year-Old Female French Bulldog. [PDF]

Vet Radiol Ultrasound
Jarvis JHM, Murakami M, Togawa G, Linder JE, Fulkerson CV.   +4 more
europepmc   +1 more source