Results 261 to 270 of about 1,296,099 (381)

Paediatrics hospitalization profile in England: A longitudinal ecological study. [PDF]

Medicine (Baltimore)
El-Qasem A, Taybeh EO, Alwafi H, Taybeh A, Alsharif AA, Al Rajeh AM, Alqahtani JS, Aldhahir AM, Alqarni AA, Jarab AS, Alhartani YJ, Naser AY.   +11 more
europepmc   +1 more source

Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features.
Malak Alghamdi, Ghaida Alghamdi, Khalid Hundallah, Dima Jamjoom, Naif Almontashiri, Essa Alharbi, Muhammad Umair, Majid Alfadhel   +7 more
wiley   +1 more source

Evaluation of vitamin A levels in patients hospitalized in the general pediatrics unit. [PDF]

J Health Popul Nutr
Tosyali M, Koc F, Dortkardesler BE, Gokce S.   +3 more
europepmc   +1 more source

Neonatal pediatrics

, 1964
Watson Bowes
openalex   +1 more source

Pediatrics [PDF]

, 2005
宮脇 利男, 市田 蕗子, 本郷 和久, 橋本 郁夫, 足立 雄一, 野村 恵子, 金兼 弘和   +6 more
core   +1 more source

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Tyhiesia Donald, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Shannon C. Shipley, Andrew E. Timms, Ghayda M. Mirzaa, Mercedes Serrano, Andrew K. Sobering   +12 more
wiley   +1 more source

Consensus recommendations for the nutritional management of children with cancer in limited resource settings: a report from the International Initiative for Pediatrics and Nutrition. [PDF]

Front Nutr
Viani K, Alves J, Damasco-Avila E, Murra MS, Schoeman J, Walters M, Ladas EJ.   +6 more
europepmc   +1 more source

Shared Decision Making in Pediatrics: A Systematic Review and Meta-analysis.

Academic pediatrics, 2015
Kirk D. Wyatt, Betsy A List, William B. Brinkman, Gabriela Prutsky Lopez, Noor Asi, P. Erwin, Zhen Wang, Juan Pablo Domecq Garces, V. Montori, Annie LeBlanc   +9 more
semanticscholar   +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

Global Pediatrics, a novel journal in the landscape of general pediatrics

Global Pediatrics, 2022
Giuseppe Buonocore, Bo Sun, Massimo Pettoello Mantovani   +2 more
doaj