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Clinical-etiologic correlation in children with Prader-Willi syndrome (PWS): an interdisciplinary study. [electronic resource] by
- Torrado, Maria
- Araoz, Veronica
- Baialardo, Edgardo
- Abraldes, Karina
- Mazza, Carmen
- Krochik, Gabriela
- Ozuna, Blanca
- Leske, Vivian
- Caino, Silvia
- Fano, Virginia
- Chertkoff, Lilien
Producer: 20070511
In:
American journal of medical genetics. Part A vol. 143A
Availability: No items available.
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16.
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[Beta thalassemia major in Argentina]. [electronic resource] by
- Torres, Feliu Aurora
- Bonduel, Mariana
- Sciuccati, Gabriela
- del Pozo, Ana
- Roldán, Ariel
- Ciaccio, Marta
- Orazi, Virginia
- Fano, Virginia
- Ozuna, Blanca
- Lejarraga, Horacio
- Muriel, Sackmann Federico
Producer: 20020613
In:
Medicina vol. 62
Availability: No items available.
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17.
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Validation of the Argentine Spanish version of Transition Readiness Assessment Questionnaire for adolescents with chronic conditions. [electronic resource] by
- González, Florencia
- Roizen, Mariana
- Rodríguez Celin, María de Las Mercedes
- De Cunto, Carmen
- Eymann, Alfredo
- Mato, Roberto
- García Arrigoni, Patricia
- Staciuk, Raquel
- Ugo, Florencia
- Fano, Virginia
Producer: 20180308
In:
Archivos argentinos de pediatria vol. 115
Availability: No items available.
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18.
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TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. [electronic resource] by
- Cho, Tae-Joon
- Matsumoto, Kazu
- Fano, Virginia
- Dai, Jin
- Kim, Ok-Hwa
- Chae, Jong Hee
- Yoo, Won Joon
- Tanaka, Yuji
- Matsui, Yoshito
- Takigami, Iori
- Monges, Soledad
- Zabel, Bernhard
- Shimizu, Katsuji
- Nishimura, Gen
- Lausch, Ekkehart
- Ikegawa, Shiro
Producer: 20120730
In:
American journal of medical genetics. Part A vol. 158A
Availability: No items available.
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19.
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Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). [electronic resource] by
- Vissers, Lisenka E L M
- Fano, Virginia
- Martinelli, Diego
- Campos-Xavier, Belinda
- Barbuti, Domenico
- Cho, Tae-Joon
- Dursun, Ahmet
- Kim, Ok Hwa
- Lee, Sun Hee
- Timpani, Giuseppina
- Nishimura, Gen
- Unger, Sheila
- Sass, Jörn Oliver
- Veltman, Joris A
- Brunner, Han G
- Bonafé, Luisa
- Dionisi-Vici, Carlo
- Superti-Furga, Andrea
Producer: 20120209
In:
American journal of medical genetics. Part A vol. 155A
Availability: No items available.
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20.
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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. [electronic resource] by
- Huber, Céline
- Delezoide, Anee-Lise
- Guimiot, Fabien
- Baumann, Clarisse
- Malan, Valérie
- Le Merrer, Martine
- Da Silva, Daniela Bezerra
- Bonneau, Dominique
- Chatelain, Pierre
- Chu, Carol
- Clark, Robin
- Cox, Helen
- Edery, Patrick
- Edouard, Thomas
- Fano, Virginia
- Gibson, Kate
- Gillessen-Kaesbach, Gabriele
- Giovannucci-Uzielli, Maria-Luisa
- Graul-Neumann, Luitgard Margarete
- van Hagen, Johana-Maria
- van Hest, Liselot
- Horovitz, Dafne
- Melki, Judith
- Partsch, Carl-Joachim
- Plauchu, Henry
- Rajab, Anna
- Rossi, Massimiliano
- Sillence, David
- Steichen-Gersdorf, Elisabeth
- Stewart, Helen
- Unger, Sheila
- Zenker, Martin
- Munnich, Arnold
- Cormier-Daire, Valérie
Producer: 20090423
In:
European journal of human genetics : EJHG vol. 17
Availability: No items available.
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