Results 221 to 230 of about 31,520 (324)

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 744-748, March 2026.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

<i>RAPSN</i>-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position. [PDF]

Case Rep Genet
Keehan L, Carter JN, Kravets E, Wheeler MT, Bernstein JA, Maselli RA, Sampson JB, Bachir S.   +7 more
europepmc   +1 more source

Micro/Nanorobot for Drug Delivery—A Review of Material Selections

Advanced NanoBiomed Research, Volume 6, Issue 3, March 2026.
This review explores material strategies for biomedical micro/nanorobots, emphasizing their roles in propulsion, navigation, drug delivery, and biodegradability. It highlights advancements in metallic, polymeric, and hybrid materials, while addressing clinical translation challenges such as toxicity, immune response, and manufacturability.
Xiaozhuo Wu, Bingyun Li, Malcolm Xing
wiley   +1 more source

Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in <i>CTBP1</i> Identified via Whole Genome Sequencing. [PDF]

Case Rep Pediatr
Silvia Beatriz Sanchez Marco, Pardington E, Monaghan M, Spaull R, Fadilah A, Kurian K, Vijayakumar K, Smithson S, Majumdar A.   +8 more
europepmc   +1 more source

Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report. [PDF]

J Clin Med
Aksel Kilicarslan O, Gangfuß A, Kölbel H, Muhmann D, Polavarapu K, Thompson R, Schmitt LI, Lessard L, Chen L, Eisenkölbl A, Schara-Schmidt U, Hentschel A, Lochmüller H, Roos A.   +13 more
europepmc   +1 more source

Jacob's Syndrome and Hearing Loss: A Case Study

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Bilateral mild‐to‐moderate hearing loss identified in a child with Jacob’s syndrome (47,XYY). This case highlights the importance of early audiological assessment in children with chromosomal abnormalities to facilitate timely intervention and optimize developmental outcomes.
Houra Bagheri, Ali Kouhi, Mojtaba Alidoust, Amineh Koravand   +3 more
wiley   +1 more source

Surgical management of progressive spinal deformities in FKBP14-associated Ehlers-Danlos syndrome: a case report and literature review. [PDF]

Childs Nerv Syst
DeMessie B, Yu J, Sayied S, Liriano G, Schulz JF, Kobets AJ.   +5 more
europepmc   +1 more source

Cantù Syndrome: A Case Report With Orthodontic and Sleep Disorder Findings

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT This case emphasizes the importance of comprehensive orthodontic and sleep evaluations in Cantù syndrome. Despite severe dento‐skeletal malocclusions, the patient exhibited low risk of obstructive sleep apnea (PSQ score < 0.33), emphasizing that craniofacial anomalies do not uniformly predict respiratory compromise.
Federica Guglielmi, Anna Alessandri Bonetti, Benedetta Nuzzo, Patrizia Gallenzi   +3 more
wiley   +1 more source

Endocrine Disorders of Calcium Signaling in Children: Neuroendocrine Crosstalk and Clinical Implications. [PDF]

Cells
Paparella R, Pastore F, Marchetti L, Bei A, Bernabei I, Iafrate N, Maglione V, Niceta M, Zambrano A, Celli M, Fiore M, Pucarelli I, Tarani L.   +12 more
europepmc   +1 more source

Ximenia americana L. From Popular Use to Anti‐Inflammatory Activities: A Comprehensive Review

Food Frontiers, Volume 7, Issue 2, March 2026.
ABSTRACT Ximenia americana (L.), known as “yellow plum,” “sea lemon,” or “Brazilian plum,” is a tropical/subtropical plant widely used in traditional medicine. Its roots, leaves, flowers, stem, and fruits are traditionally employed to treat various inflammatory disorders.
Bruno Anderson F. Silva, Maria Gabriely de Lima Silva, Eduardo S. Silva, Lucas Yure S. Silva, Renata Torres Pessoa, Silvio C. Alves‐Júnior, Jullyana S. S. Quintans, Laurent Picot, Irwin Rose A. Menezes, Lucindo J. Quintans‐Júnior   +9 more
wiley   +1 more source