Results 221 to 230 of about 147,278 (285)

Novel gene variants in a rare case of SRY-negative 46, XX male syndrome with bone marrow failure by whole exome sequencing. [PDF]

open access: yesBlood Sci
Zhang A   +9 more
europepmc   +1 more source

Requirements for Human Cerebral Organoids

open access: yes
Cell Proliferation, EarlyView.
Ya‐Jie Xu   +44 more
wiley   +1 more source

Diagnosing Systemic Mastocytosis: State of the Art

open access: yesInternational Journal of Laboratory Hematology, EarlyView.
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]

open access: yesCureus
Errahali Y   +4 more
europepmc   +1 more source

Lessons from clinical and genetic characterization of intellectual disability

open access: yes
Developmental Medicine &Child Neurology, EarlyView.
Fuki Marie Hisama
wiley   +1 more source

Plasma Elastase Screening in Hematological Disease Reveals Its Potential as a Diagnostic and Prognostic Biomarker in Hematological Malignancies

open access: yesInternational Journal of Laboratory Hematology, EarlyView.
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]

open access: yesCase Rep Endocrinol
Alabduljabbar A   +5 more
europepmc   +1 more source

Molecular Alterations in Osteosarcomas of the Oral and Maxillofacial Region: A Scoping Review

open access: yesJournal of Oral Pathology &Medicine, EarlyView.
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

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