Results 141 to 150 of about 1,142,184 (340)

Characterization of Breakthrough Hemolysis in Patients With Paroxysmal Nocturnal Hemoglobinuria: An International Multicenter Experience

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Breakthrough hemolysis (BTH) is defined as a hemolytic exacerbation in a patient with paroxysmal nocturnal hemoglobinuria (PNH) treated with complement inhibitors (CIs). In the current era of several terminal and proximal inhibitors, there are no guidelines for defining BTH and its severity, and clinical management is not standardized.
Bruno Fattizzo   +23 more
wiley   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah   +6 more
wiley   +1 more source

Computerized test for oral language perception: TIPLO [PDF]

open access: green, 2003
Christophe Parisse, Edith Soubeyrand
openalex   +1 more source

DICTION IN A DRAMA ENTITLED ‘ROMEO AND JULIET’ BY WILLIAM SHAKESPEARE [PDF]

open access: yes, 2014
A literary work is a sign symbol and communication symbol which points the reader to understand that a literary work represents an abstraction of various mechanismsbetween others which is possible to be happened.
Widyahening , Ch. Evy Tri
core  

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo   +4 more
wiley   +1 more source

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