Results 91 to 100 of about 45,899 (203)
EMG chacterizationn and processing in fragile X syndrome children during gait
openQuesta tesi si concentra sulla caratterizzazione e analisi del segnale elettromiografico (EMG) durante il cammino nei bambini affetti da sindrome di X fragile.
MARINO, VALENTINA ALICE
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Quand l'évaluation intellectuelle est un défi: son examen dans le syndrome du X-fragile
Le syndrome du X-fragile est une affection d’origine génétique caractérisée par une déficience intellectuelle (faiblesse générale combinée à un profil de forces et de faiblesses).
De Grove, Kathleen
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Genotype prediction in the fragile X syndrome.
Fragile X positive, mentally retarded males have been shown to have an insertion or amplification of DNA sequences at, or close to, the site of expression of the fragile site. We show here the application of the detection of such changes to the diagnosis
Thibodeau, SN +10 more
core +1 more source
Cytogenetic and Molecular Investigation in Children with Possible Fragile X Syndrome
Objective: Fragile X syndrome (FXS) is the most common cause of inherited mental retardation and is due to a mutation in the X-linked FMR1 gene. Molecular genetic testing and chromosome analysis are indicated for this disorder.
Onur Ozer +8 more
doaj
Conducting Research With an Adolescent Diagnosed With Fragile X Syndrome
In this article I address the reflexive nature of research undertaken when I investigated the presence of resilience found in an adolescent girl diagnosed with fragile X syndrome.
Chantel Lynette Weber
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Special issue: Fragile X syndrome
In this issue of Science Signaling , three papers uncover molecular mechanisms of neurological dysfunction in animal models of fragile X syndrome.
Leslie K. Ferrarelli
core +1 more source
Flannery, A +4 more
openaire +3 more sources
openLa Sindrome X Fragile (FXS) è una condizione genetica rara che determina una carenza della proteina FMRP, con conseguente alterazione della morfologia e della funzionalità neuronale.
MENEGUZZI, GIADA
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committee ...
American College of Obstetricians and Gynecologists [ACOG]. Committee on Genetics
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