Results 291 to 300 of about 2,772,382 (389)

Estimating the quality of patient care in a pediatric emergency room

, 1967
Ray E. Helfer
openalex   +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

Impact of the COVID-19 Pandemic on Emergency Air Medical Transport of Pediatric Patients in the Penghu Islands. [PDF]

Healthcare (Basel)
Fang HH, Huang CY, Hsu PC, Sung CC, Li SP, Lai CY.   +5 more
europepmc   +1 more source

The Pediatric Nurse and Parental Anxiety

, 1965
Florence Bright
openalex   +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

Pediatrics.

Buffalo medical journal
openaire   +32 more sources

Provider Perspectives on Pediatric Store-and-Forward Teledermatology at Boston Medical Center: Cross-Sectional Survey. [PDF]

JMIR Dermatol
McDowell M, Stulac S, Lee MS.
europepmc   +1 more source

Disrupting the CD47-SIRPα anti-phagocytic axis by a humanized anti-CD47 antibody is an efficacious treatment for malignant pediatric brain tumors

Science Translational Medicine, 2017
S. Gholamin, S. Mitra, A. Feroze, Jie Liu, S. Kahn, Michael Zhang, Rogelio Esparza, Chase Richard, V. Ramaswamy, M. Remke, A. Volkmer, S. Willingham, Anitha Ponnuswami, Aaron McCarty, Patricia A. Lovelace, Theresa A. Storm, S. Schubert, G. Hutter, Cyndhavi Narayanan, Pauline Chu, Eric H. Raabe, G. Harsh, Michael D. Taylor, Michelle Monje, Yoon-Jae Cho, R. Majeti, J. Volkmer, P. Fisher, G. Grant, G. Steinberg, H. Vogel, Michael Edwards, I. Weissman, S. Cheshier   +33 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