Results 51 to 60 of about 9,068 (100)

Distribution de l’activité de la Glucose-6-Phosphate Déshydrogenase dans une population adulte du nord-est de l’Algérie : contribution à un intervalle local [Distribution of Glucose-6-Phosphate Dehydrogenase activity in a northeastern Algerian population

open access: yesJournal de la Faculté de Médecine d'Oran
Résumé  Introduction-Le déficit en glucose-6-phosphate déshydrogénase (G6PD), anomalie enzymatique héréditaire la plus fréquente dans le monde, présente une variabilité géographique et génétique justifiant l’établissement de références locales. Cette
Rima Laskri   +7 more
doaj  

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications. [PDF]

open access: yesFront Genet
Chretien M   +49 more
europepmc   +1 more source

Transmission of an environmental modification in quails across three generations: changes in the contribution to phenotypic variability. [PDF]

open access: yesGenet Sel Evol
Rousse S   +8 more
europepmc   +1 more source

Large phenotypic variability with severe respiratory involvement in <i>MEGF10</i>-related myopathies: Description of three cases. [PDF]

open access: yesJ Neuromuscul Dis
Pennisi A   +10 more
europepmc   +1 more source

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies. [PDF]

open access: yesGenome Med
Santini A   +49 more
europepmc   +1 more source

Inhibition of SUV39H1 as a potent therapeutic target in multiple myeloma. [PDF]

open access: yesHaematologica
Alibert L   +14 more
europepmc   +1 more source

Cutis Marmorata Telangiectatica Congenita: An Atypical Clinical Presentation of Vascular Anomalies. [PDF]

open access: yesActa Derm Venereol
El Fekih I   +4 more
europepmc   +1 more source

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy. [PDF]

open access: yesHum Mutat
de Feraudy Y   +24 more
europepmc   +1 more source

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