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The characteristics of transcranial color-coded duplex sonography in children with cerebral arteriovenous malformation presenting with headache. [electronic resource] by
- Duranovic, Vlasta
- Vulin, Katarina
- Dakovic, Ivana
- Lenicek Krleza, Jasna
- Delin, Sanja
- Galinovic, Ivana
- Marjanovic, Josip
- Tripalo Batos, Ana
- Plesa Premilovac, Zdenka
- Mejaski Bosnjak, Vlatka
Producer: 20190506
In:
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery vol. 34
Availability: No items available.
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14.
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L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients. [electronic resource] by
- Steenweg, Marjan E
- Salomons, Gajja S
- Yapici, Zuhal
- Uziel, Graziella
- Scalais, Emmanuel
- Zafeiriou, Dimitrios I
- Ruiz-Falco, Maria L
- Mejaski-Bosnjak, Vlatka
- Augoustides-Savvopoulou, Persephone
- Wajner, Moacir
- Walter, John
- Verhoeven-Duif, Nanda M
- Struys, Eduard A
- Jakobs, Cornelis
- van der Knaap, Marjo S
Producer: 20090626
In:
Radiology vol. 251
Availability: No items available.
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15.
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S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. [electronic resource] by
- Baric, Ivo
- Fumic, Ksenija
- Glenn, Byron
- Cuk, Mario
- Schulze, Andreas
- Finkelstein, James D
- James, S Jill
- Mejaski-Bosnjak, Vlatka
- Pazanin, Leo
- Pogribny, Igor P
- Rados, Marko
- Sarnavka, Vladimir
- Scukanec-Spoljar, Mira
- Allen, Robert H
- Stabler, Sally
- Uzelac, Lidija
- Vugrek, Oliver
- Wagner, Conrad
- Zeisel, Steven
- Mudd, S Harvey
Producer: 20040510
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 101
Availability: No items available.
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16.
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MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. [electronic resource] by
- Brancati, Francesco
- Iannicelli, Miriam
- Travaglini, Lorena
- Mazzotta, Annalisa
- Bertini, Enrico
- Boltshauser, Eugen
- D'Arrigo, Stefano
- Emma, Francesco
- Fazzi, Elisa
- Gallizzi, Romina
- Gentile, Mattia
- Loncarevic, Damir
- Mejaski-Bosnjak, Vlatka
- Pantaleoni, Chiara
- Rigoli, Luciana
- Salpietro, Carmelo D
- Signorini, Sabrina
- Stringini, Gilda Rita
- Verloes, Alain
- Zabloka, Dominika
- Dallapiccola, Bruno
- Gleeson, Joseph G
- Valente, Enza Maria
Producer: 20090410
In:
Human mutation vol. 30
Availability: No items available.
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17.
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Rett networked database: an integrated clinical and genetic network of Rett syndrome databases. [electronic resource] by
- Grillo, Elisa
- Villard, Laurent
- Clarke, Angus
- Ben Zeev, Bruria
- Pineda, Mercedes
- Bahi-Buisson, Nadia
- Hryniewiecka-Jaworska, Anna
- Bienvenu, Thierry
- Armstrong, Judith
- Roche-Martinez, Ana
- Mari, Francesca
- Veneselli, Edvige
- Russo, Silvia
- Vignoli, Aglaia
- Pini, Giorgio
- Djuric, Milena
- Bisgaard, Anne-Marie
- Mejaški Bošnjak, Vlatka
- Polgár, Noémi
- Cogliati, Francesca
- Ravn, Kirstine
- Pintaudi, Maria
- Melegh, Béla
- Craiu, Dana
- Djukic, Aleksandra
- Renieri, Alessandra
Producer: 20120927
In:
Human mutation vol. 33
Availability: No items available.
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18.
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Epilepsy in Rett syndrome--lessons from the Rett networked database. [electronic resource] by
- Nissenkorn, Andreea
- Levy-Drummer, Rachel S
- Bondi, Ori
- Renieri, Alessandra
- Villard, Laurent
- Mari, Francesca
- Mencarelli, Maria A
- Lo Rizzo, Caterina
- Meloni, Ilaria
- Pineda, Mercedes
- Armstrong, Judith
- Clarke, Angus
- Bahi-Buisson, Nadia
- Mejaski, Bosnjak Vlatka
- Djuric, Milena
- Craiu, Dana
- Djukic, Alexsandra
- Pini, Giorgio
- Bisgaard, Anne Marie
- Melegh, Bela
- Vignoli, Aglaia
- Russo, Silvia
- Anghelescu, Cristina
- Veneselli, Edvige
- Hayek, Joussef
- Ben-Zeev, Bruria
Producer: 20150615
In:
Epilepsia vol. 56
Availability: No items available.
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19.
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An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. [electronic resource] by
- Steenweg, Marjan E
- Jakobs, Cornelis
- Errami, Abdellatif
- van Dooren, Silvy J M
- Adeva Bartolomé, Maria T
- Aerssens, Peter
- Augoustides-Savvapoulou, Persephone
- Baric, Ivo
- Baumann, Matthias
- Bonafé, Luisa
- Chabrol, Brigitte
- Clarke, Joe T R
- Clayton, Peter
- Coker, Mahmut
- Cooper, Sarah
- Falik-Zaccai, Tzipora
- Gorman, Mark
- Hahn, Andreas
- Hasanoglu, Alev
- King, Mary D
- de Klerk, Hans B C
- Korman, Stanley H
- Lee, Céline
- Meldgaard Lund, Allan
- Mejaski-Bosnjak, Vlatka
- Pascual-Castroviejo, Ignacio
- Raadhyaksha, Aparna
- Rootwelt, Terje
- Roubertie, Agathe
- Ruiz-Falco, Maria L
- Scalais, Emmanuel
- Schimmel, Ulf
- Seijo-Martinez, Manuel
- Suri, Mohnish
- Sykut-Cegielska, Jolanta
- Trefz, Friedrich K
- Uziel, Graziella
- Valayannopoulos, Vassili
- Vianey-Saban, Christine
- Vlaho, Stefan
- Vodopiutz, Julia
- Wajner, Moacir
- Walter, John
- Walter-Derbort, Claudia
- Yapici, Zuhal
- Zafeiriou, Dimitrios I
- Spreeuwenberg, Marieke D
- Celli, Jacopo
- den Dunnen, Johan T
- van der Knaap, Marjo S
- Salomons, Gajja S
Producer: 20100730
In:
Human mutation vol. 31
Availability: No items available.
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