Results 241 to 250 of about 405,169 (366)

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Wrist Joint Restriction: Impact on Foot Pressure, Center of Gravity, and the Role of the Dominant Hand. [PDF]

J Clin Med
Cruz Gambero L, Gijón-Noguerón GA, Díaz Miguel S, Barón-López J, Raquel CT.   +4 more
europepmc   +1 more source

The diagnosis and treatment of the early changes in the rheumatoid wrist and hand

, 1968
Linda Zener Solomon
openalex   +2 more sources

Passive mechanical properties of the wrist and physiological tremor. [PDF]

, 1986
Martin Lakie, E G Walsh, G W Wright
openalex   +1 more source

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Single Joint Hybrid Assistive Limb (HAL-SJ) robotic exoskeleton therapy in improving functional outcomes among workers with wrist fractures: Study protocol for a randomized controlled trial. [PDF]

PLoS One
Tan EW, Chai SC, Sankai Y, Shingu M, Razaob NA, Hussain H.   +5 more
europepmc   +1 more source

Synovectomy with Resection of the Distal Ulna in Rheumatoid Arthritis of the Wrist [PDF]

, 1983
Claus Munk Jensen
openalex   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Isolated Compound Dislocation of the Pisiform Bone with Associated Neurovascular Injury Following an Assault: A Rare Injury Pattern. [PDF]

J Orthop Case Rep
Sadiq M, Manne A, Rajesh M, Reddy MD, Kumar SS, Naik BD.   +5 more
europepmc   +1 more source

Towards Polymer Composite‐Based Transient Electronic Systems

Advanced NanoBiomed Research, EarlyView.
Biodegradable electronic systems are gaining attention for implantable biomedical applications, targeting disease treatment and lifespan extension. This review covers advances in biocompatible, biodegradable polymer composites using synthetic and natural polymers with conductive, semiconductive, and insulating fillers.
Gwan‐Jin Ko, Venkata Ramesh Naganaboina, Emad S. Goda, Ankan Dutta, Huanyu Cheng, Suk‐Won Hwang   +5 more
wiley   +1 more source