Novel gene variants in a rare case of SRY-negative 46, XX male syndrome with bone marrow failure by whole exome sequencing. [PDF]
Zhang A +9 more
europepmc +1 more source
Requirements for Human Cerebral Organoids
Cell Proliferation, EarlyView.
Ya‐Jie Xu +44 more
wiley +1 more source
Diagnosing Systemic Mastocytosis: State of the Art
ABSTRACT With the advent of effective multikinase and selective tyrosine kinase inhibitors in systemic mastocytosis, diagnosing this rare disease has been critical to improving patient morbidity and mortality. This state‐of‐the‐art review interprets the international diagnostic criteria, including differences between the WHO 5th edition classification ...
Anton Rets, Tracy I. George
wiley +1 more source
Clinical Presentation and Management of Swyer Syndrome: A Case Report. [PDF]
Errahali Y +4 more
europepmc +1 more source
Lessons from clinical and genetic characterization of intellectual disability
Developmental Medicine &Child Neurology, EarlyView.
Fuki Marie Hisama
wiley +1 more source
ABSTRACT Introduction Neutrophil‐extracellular traps are net‐like material released by triggered neutrophils and composed of decondensed chromatin linked to nuclear proteins. Elastase, one of the fourth most represented neutrophil‐specific serine proteases stored in azurophil granules of naïve neutrophils, exerts various actions, including degradation ...
Pasqualina Scala +14 more
wiley +1 more source
StAR Protein Deficiency in Clinical Practice: A Case Series From Saudi Arabia. [PDF]
Alabduljabbar A +5 more
europepmc +1 more source
Myelodysplastic Syndrome With Complex Chromosomal Karyotype Abnormalities Complicated by Multiple Intestinal Perforations: A Case Report and Literature Review. [PDF]
Niu ZY +5 more
europepmc +1 more source
Molecular Alterations in Osteosarcomas of the Oral and Maxillofacial Region: A Scoping Review
ABSTRACT Background Given the rarity and aggressive nature of osteosarcomas (OS) in the oral and maxillofacial region, understanding their molecular alterations is essential to improve diagnosis, prognosis, and guide targeted therapies. This study aimed to map molecular alterations associated with oral and maxillofacial OS, providing an overview of the
Iara Vieira Ferreira +6 more
wiley +1 more source
Karyotyping and Distribution Patterns of Endemic Chinese Lilies: Insights Into Their Conservation Under Climate Change. [PDF]
Gui T +5 more
europepmc +1 more source

