Results 201 to 210 of about 618,834 (263)

A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback. [PDF]

J Inherit Metab Dis
Saudubray JM, Schiff M.
europepmc   +1 more source

Biopsy‐Proven Hydroxychloroquine‐Induced Cardiomyopathy in an Adolescent With Systemic Lupus Erythematosus

Arthritis &Rheumatology, Accepted Article.
Greta Mastrangelo, Anita Nagy, Aamir Jeewa, Deborah M Levy   +3 more
wiley   +1 more source

Lesions Associated With Autism Symptoms Map to a Cerebellar Brain Network in Tuberous Sclerosis Complex

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Autism spectrum disorder (ASD) affects 1 in 36 individuals in the United States and is characterized by impaired social communication and restrictive/repetitive behaviors. Individuals with tuberous sclerosis complex (TSC) have a high incidence of ASD (40%) and exhibit congenital brain lesions (tubers), offering a unique lesion‐based ...
Wendy Xiao Herman, Gillian N. Miller, Mustafa Sahin, Jurriaan M. Peters, Simon K. Warfield, Darcy A. Krueger, E. Martina Bebin, Hope Northrup, Joyce Y. Wu, Michael D. Fox, Alexander L. Cohen   +10 more
wiley   +1 more source

IEIVariantFilter: a bioinformatics tool to speed up genetic diagnosis of inborn errors of immunity patients. [PDF]

NAR Genom Bioinform
Pereda J, Espinosa R, García-Solís B, Guerra-Galán T, Van-Den-Rym A, Kars ME, Mena R, Galán V, de Andrés-Martín A, Rodríguez-Gallego C, López-Lera A, Corvillo F, Pérez-Martínez A, López-Collazo E, Sánchez-Ramón S, Martínez-Barricarte R, Quintana-Murci L, Lorenzo-Salazar JM, Itan Y, Flores C, Pérez-de-Diego R.   +20 more
europepmc   +1 more source

Family's socioeconomic and demographic factors on elements of children's dental and oral health: A scoping review

Clinical and Experimental Dental Research, EarlyView.
Abstract Background Family plays a significant role in children's dental and oral health (DOH) elements, such as children's DOH knowledge and practice, the development of children's dental fear and anxiety (DFA), children's dental visits, and children's DOH status.
Wisnu Fadila, Mugia B. Rahardja, Puguh Prasetyoputra, Anne A. Suwargiani, Yanu E. Prasetyo, Eriska Riyanti   +5 more
wiley   +1 more source

Autoimmune manifestations in children with inborn errors of immunity in Morocco: A study from the national registry. [PDF]

J Transl Autoimmun
Elamine A, Benhsaien I, Ailal F, Errami A, Kasmi Z, Aadam Z, Bourhanbour AD, Bousfiha AA, El Bakkouri J.   +8 more
europepmc   +1 more source

Myomaker and Myomixer are required for craniofacial myoblast fusion in zebrafish

Developmental Dynamics, EarlyView.
Abstract Background Craniofacial and trunk skeletal muscles are derived from different progenitor populations during development. Trunk skeletal muscles contain mostly multinucleated myofibers that are formed through myoblast fusion. However, myoblast fusion in craniofacial muscles and its molecular regulation are not well understood.
Zhanxiong Zhang, Pengzheng Yong, Qiaomu Hu, Shaojun Du   +3 more
wiley   +1 more source

What We Know and What We Don't Know About the Function of γδ T Cells. [PDF]

Eur J Immunol
Prinz I, Meyer A.
europepmc   +1 more source

Identification of novel genes regulating the development of the palate

Developmental Dynamics, EarlyView.
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley   +1 more source

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation. [PDF]

Int J Neonatal Screen
Vasco A, Berardo C, Lucchi S, Cappelletti L, Tamburello G, Fazzone S, Mauri A, Fiumani F, Postorivo D, Alberti L, Perrone Donnorso M, Gasperini S, Furlan F, Fiori L, Carelli S, Saielli LA, Montrasio C, Cereda C.   +17 more
europepmc   +1 more source