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of 24
pro vyhledávání: '"Martinez-Esteve Melnikova A"'
Autor:
Martinez-Esteve Melnikova, Anastasia, Pijuan, Jordi, Aparicio, Javier, Ramírez, Alia, Altisent-Huguet, Anna, Vilanova-Adell, Alba, Arzimanoglou, Alexis, Armstrong, Judith, Palau, Francesc, Hoenicka, Janet, San Antonio-Arce, Victoria
Publikováno v:
In European Journal of Medical Genetics March 2022 65(3)
Publikováno v:
Pediatric Neurology Briefs, Vol 29, Iss 2 (2015)
Investigators from Pavia, Rho, Brescia and Milan, Italy, studied 22 patients diagnosed with GLUT1 deficiency syndrome (GLUT1DS) to document clinical or genetic differences between patients with familial SLC2A1 gene mutations (n=11) and those with spo
Externí odkaz:
https://doaj.org/article/e96e3bf147b04df0910c34144f56493b
Autor:
Anastasia Martinez-Esteve Melnikova, Jordi Pijuan, Javier Aparicio, Alia Ramírez, Anna Altisent-Huguet, Alba Vilanova-Adell, Alexis Arzimanoglou, Judith Armstrong, Francesc Palau, Janet Hoenicka, Victoria San Antonio-Arce
Publikováno v:
European Journal of Medical Genetics. 65:104442
The GRIA3 gene is located in the X chromosome and encodes for one of the subunits (iGluR3) of the alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR), an excitatory synaptic transmission receptor present in most parts of the bra
Autor:
Martinez-Esteve Melnikova, Anastasia1 anastasia.martinez-e.melnikova@outlook.com, Schäppi, Michela2 michela.tempia@grangettes.ch, Korff, Christian1 Christian.Korff@hcuge.ch, Schäppi, Michela G3 (AUTHOR)
Publikováno v:
European Journal of Pediatrics. Jan2016, Vol. 175 Issue 1, p131-135. 5p. 1 Chart.
Le syndrome de vomissements cycliques est l'un des syndromes épisodiques de l'enfance. Il est considéré comme une variante de la migraine, et est potentiellement lié à une anomalie dans le métabolisme mitochondrial. La riboflavine (vitamine B2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43866e72ff539f2bd003e708322081c9
Autor:
Yacine Aggoun, Maurice Beghetti, Regula Corbelli, Patrick Olivier Myers, Afksendiyos Kalangos, Dominique Didier, Cecile Tissot, Anastasia Martinez-Esteve Melnikova, Tornike Sologashvili
Publikováno v:
Cardiology in the Young, Vol. 25, No 2 (2015) pp. 295-300
Introduction: Patients with absent pulmonary valve syndrome often present early with airway compression from aneurysmal pulmonary arteries. This study reviews our experience in managing absent pulmonary valve syndrome in later presenting children, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6f3b4197f3679e84d04d0d5346419f7
http://doc.rero.ch/record/295785/files/S1047951113002151.pdf
http://doc.rero.ch/record/295785/files/S1047951113002151.pdf
Publikováno v:
Pediatric Neurology Briefs
Pediatric Neurology Briefs, Vol 29, Iss 2 (2015)
Pediatric Neurology Briefs, Vol. 29, No 2 (2015) P. 14
Pediatric Neurology Briefs, Vol 29, Iss 2 (2015)
Pediatric Neurology Briefs, Vol. 29, No 2 (2015) P. 14
Investigators from Pavia, Rho, Brescia and Milan, Italy, studied 22 patients diagnosed with GLUT1 deficiency syndrome (GLUT1DS) to document clinical or genetic differences between patients with familial SLC2A1 gene mutations (n=11) and those with spo
Publikováno v:
European Journal of Pediatrics, Vol. 175, No 1 (2016) pp. 131-135
Cyclic vomiting syndrome is an episodic disorder considered to be a migraine variant. Riboflavin is efficient in the prophylactic treatment of migraines in adults. We describe the effectiveness and tolerance of riboflavin treatment in three children
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aca042598c2938628fa3f6c4918428c2
https://archive-ouverte.unige.ch/unige:83794
https://archive-ouverte.unige.ch/unige:83794
Autor:
Martinez-Esteve Melnikova, Anastasia, Sologashvili, Tornike, Beghetti, Maurice, Tissot, Cécile, Kalangos, Afksendiyos, Corbelli, Regula, Aggoun, Yacine, Didier, Dominique, Myers, Patrick O.
Publikováno v:
Cardiology in the Young; Feb2015, Vol. 25 Issue 2, p295-300, 6p
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