Results 211 to 220 of about 333,430 (360)

Efficacy of Percutaneous Treatment of Primary Aneurysmal Bone Cysts (ABCs): A Systematic Review and Meta-Analysis. [PDF]

open access: yesJ Clin Med, 2023
Samargandi R   +9 more
europepmc   +1 more source

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel   +41 more
wiley   +1 more source

Approach to the Treatment of Expansile Metacarpal Aneurysmal Bone Cysts: A Report of Two Cases. [PDF]

open access: yesJ Hand Surg Glob Online, 2023
Gajewski CR   +4 more
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

Does the preoperative neutrophil-to-lymphocyte ratio have a prognostic value in aneurysmal bone cysts? [PDF]

open access: yesJt Dis Relat Surg, 2023
Kaya İ   +4 more
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet   +10 more
wiley   +1 more source

Aneurysmal bone cysts (ABC): Retrospective analysis of two hundred and fifty eight cases. [PDF]

open access: yesInt Orthop
Karaca MO   +5 more
europepmc   +1 more source

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