Results 161 to 170 of about 367,278 (369)

Fibrous Dysplasia of Bone [PDF]

, 1950
S. Paul Perry, W. Dan Haden
openalex   +1 more source

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

Retuve: Automated Multi-Modality Analysis of Hip Dysplasia with Open Source AI [PDF]

arXiv
Developmental dysplasia of the hip (DDH) poses significant diagnostic challenges, hindering timely intervention. Current screening methodologies lack standardization, and AI-driven studies suffer from reproducibility issues due to limited data and code availability.
arxiv  

Fibrous Dysplasia of Bone [PDF]

, 1949
H. H. Jacobsen, Gustav Vraa‐Jensen
openalex   +1 more source

Hereditary Ectodermal Dysplasia [PDF]

, 1931
Jean Smith
openalex   +1 more source

Psychoses of Epilepsy: Unravelling the Phenotypic and Genotypic Features

Annals of Neurology, EarlyView.
Objectives We analyzed the genotypic and phenotypic features of patients with psychosis of epilepsy (POE). Methods Patients with POE recruited to an epilepsy genetics research program underwent phenotyping and genetic analysis. The latter included screening for rare pathogenic variants in epilepsy genes, and polygenic risk score (PRS) calculation for ...
Genevieve Rayner, Eliza Honybun, Melanie Bahlo, Karen L. Oliver, Ingrid E. Scheffer   +4 more
wiley   +1 more source

A companion to the preclinical common data elements and case report forms for neuropathology studies in epilepsy research. A report of the TASK3 WG2 Neuropathology Working Group of the ILAE/AES Joint Translational Task Force

Epilepsia Open, EarlyView., 2022
Abstract The International League Against Epilepsy/American Epilepsy Society (ILAE/AES) Joint Translational Task Force initiated the TASK3 working group to create common data elements (CDEs) for various aspects of preclinical epilepsy research studies, which could help improve the standardization of experimental designs.
Eleonora Aronica, Devin K. Binder, Meinrad Drexel, Chrysanthy Ikonomidou, Shilpa D. Kadam, Guenther Sperk, Christian Steinhäuser   +6 more
wiley   +1 more source

Physiothreapeutic treatments in infants with congenital hip dysplasia

Journal of Education, Health and Sport, 2018
Congenital dysplasia is the most common congenital orthopaedic defect in children. Its occurrence is estimated at 2-4% of newborns (1:400), where majority of cases concern girls (85%).
Edyta Piechocka, Bartłomiej Wrzesiński, Paweł Wojtczak, Anna Ziółkowska, Dominika Ciecierska   +4 more
doaj  

Binder’s Syndrome [PDF]

, 2011
Binder's Syndrome also known as Maxillo-Nasal Dysplasia is a developmental disorder primarily affecting the anterior part of the maxilla and nasal complex (nose and jaw). It is a rare disorder and the causes are unclear.
Babu, SG, Castelino, RL, Rao, KAHT, Shetty, SR   +3 more
core  

Primary Adrenocortical Nodular Dysplasia: A Rare Cause of Cushing's Syndrome¹ [PDF]

, 1967
Clifton K. Meador, B. A. Bowdoin, William Owen, T. Albert Farmer   +3 more
openalex   +1 more source