Phenotypic characterization of a patient with Glanzmann Thrombasthenia caused by a novel homozygous mutation in the ITGA2B gene

For the proposed method, a 20-pose set is used to determine the base frame unit axes. Another 20-pose set is then used to identify the four kinematic parameters. This latter is

In this section we review particular course elements that contributed to student learning and a successful experience for instructors... and

Body Lift, body contouring, chirurgie de la silhouette, redrapage cutané, chirurgie bariatrique, BODY-Q, critères d’évaluation rapportés par les patients, validation,

(rotenone sensitive NADH ubiquinone oxido-reductase) activity; CII= respiratory complex II (succinate ubiquinone oxido-reductase) activity; CIII= respiratory complex III (antimycin

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroax- onal dystrophy in a Sudanese family... Ahmed 1* and Giovanni

X-ALD: X-linked adrenoleukodystrophy; ABCD1: ATP-binding cassette, sub-family D member 1; ALDP: Adrenoleukodystrophy Protein; VLCFAs: Very Long Chain Fatty Acids; MRI:

A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation... Journal of Genetics, Indian Academy of Sciences, 2011, 90