Results 221 to 230 of about 57,539 (299)

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston   +6 more
wiley   +1 more source

Education Research: The Future of Child Neurology Residency Training: The Perspective of a Child Neurology Society Task Force. [PDF]

open access: yesNeurol Educ
Cohen BH   +12 more
europepmc   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

The emergence of Oropouche virus in Cuba – A wake-up call for global health

open access: yesJournal of Infection and Public Health
Jaffar A. Al-Tawfiq   +2 more
doaj   +1 more source

Developing consensus definitions and methods for non-visually impairing eye conditions for population-based eye surveys in Nigeria: a Delphi study. [PDF]

open access: yesBMJ Open
Aghaji A   +7 more
europepmc   +1 more source

Systemic Corticosteroids in the Management of Sinonasal Disease: An Evidence‐Based Expert Review

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a prevalent, heterogeneous inflammatory disease associated with significant morbidity. Systemic corticosteroids (SCS) are commonly prescribed for their anti‐inflammatory effects, but cumulative exposure carries risks, including metabolic, cardiovascular, and skeletal complications.
Andrew Thamboo   +28 more
wiley   +1 more source

USB1 deficiency disrupts neutrophil maturation via RNA dysregulation independent of global pre‐mRNA splicing

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the essential role of USB1 in neutrophil maturation. In normal myeloid cells, USB1 acts as an RNA exonuclease, trimming RNA tails to maintain proper RNA network function, which supports the differentiation of myeloid progenitor cells into mature neutrophils.
Hang Li   +6 more
wiley   +1 more source

[Gilbert's disease. Presentation of 2 cases].

open access: yesBoletin medico del Hospital Infantil de Mexico, 1982
N S, Cruz, R G, Alváez, J B, Trelles
openaire   +1 more source

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