Results 141 to 150 of about 157,787 (333)
British Journal of Haematology, EarlyView.Inherited thrombocytopenia (IT) caused by germline variants in RUNX1, ETV6 or ANKRD26 carries a high risk of developing haematological malignancy. This study examined the clinical, platelet and molecular characteristics of 66 patients with these conditions, who carried 24 distinct genetic variants in the corresponding genes.
Ana Marín‐Quílez +34 more
wiley +1 more source
Aspectos clínico-bacteriológicos de las otorreas agudas y crónicas
Revista de la Facultad de Medicina, 1965 Los autores relatan los hallazgos bacteriológicos, clínicos, funcionales y la evolución terapéutica médica y médico-quirúrgica de 77 pacientes afectados de Otorrea aguda y crónica.
Hernando Rocha Posada, César Rincón H.
doaj
The possibilities and limitations of the electrolytic bougie in the treatment of chronic catarrhal otitis [PDF]
, 1903 Arthur B. Duel
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Clinical Genetics, EarlyView.We report a 2‐year‐old male with clinical features of Takenouchi‐Kosaki syndrome, bilateral colobomas, and a de novo, likely pathogenic missense variant in CDC42. Supportive evidence includes a Cdc42 conditional knock‐out mouse model with colobomas.
Diana Brightman +11 more
wiley +1 more source
XXXVII. Report of a Case of Mastoidectomy for Acute Suppurative Otitis Media, Followed Later by Facial Paralysis, Almost Total Deafness, Meningitis and Death [PDF]
, 1918 John Page
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Clinical Genetics, EarlyView.Key features of paralogous GRIA2 and GRIA3 gain‐of‐function variants. ABSTRACT GRIA‐related disorders arise from disease‐causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid (AMPA)‐type glutamate receptors (AMPARs).
Emilie Sjøstrøm +24 more
wiley +1 more source