Zobrazeno 241 - 250
of 608
pro vyhledávání: '"Bonne, Gisèle"'
Autor:
Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Reinhard, Carola, Gómez-Andrés, David, Desaphy, Jean-François, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J., Synofzik, Matthis, Riess, Olaf, Yaou, Rabah Ben, Evangelista, Teresinha, Ratnaike, Thiloka, Bros-Facer, Virginie, Gumus, Gulcin, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients waiting 5 to 30 years for one
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::427d5b59402e5d7bda7c80f2225357d7
Autor:
Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Reinhard, Carola, Gómez-Andrés, David, Jean-François Desaphy, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J., Synofzik, Matthis, Riess, Olaf, Rabah Ben Yaou, Evangelista, Teresinha, Thiloka Ratnaike, Bros-Facer, Virginie, Gulcin Gumus, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Additional file 3. Data Capture Form.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c959d8581db39dfc965e0a6280dd48bc
Autor:
Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Reinhard, Carola, Gómez-Andrés, David, Jean-François Desaphy, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J., Synofzik, Matthis, Riess, Olaf, Rabah Ben Yaou, Evangelista, Teresinha, Thiloka Ratnaike, Bros-Facer, Virginie, Gulcin Gumus, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Additional file 1. Systematic Review Protocol.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0dd34688ddc4e8c46f2c120c4c3390fe
Autor:
Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Reinhard, Carola, Gómez-Andrés, David, Jean-François Desaphy, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J., Synofzik, Matthis, Riess, Olaf, Rabah Ben Yaou, Evangelista, Teresinha, Thiloka Ratnaike, Bros-Facer, Virginie, Gulcin Gumus, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Additional file 2. Search Log.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::464dc206cf19777a264e97e9d458b802
Autor:
Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Reinhard, Carola, Gómez-Andrés, David, Desaphy, Jean-François, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J., Synofzik, Matthis, Riess, Olaf, Yaou, Rabah Ben, Evangelista, Teresinha, Ratnaike, Thiloka, Bros-Facer, Virginie, Gumus, Gulcin, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients waiting 5 to 30 years for one
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ff4d175f5dee8ec00cd63846a3f9f533
Autor:
Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Rheinard, Carola, Gómez-Andrés, David, Jean-François Desaphy, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J., Synofzik, Matthis, Riess, Olaf, Rabah Ben Yaou, Evangelista, Teresinha, Thiloka Ratnaike, Bros-Facer, Virginie, Gulcin Gumus, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Additional file 2. Search Log.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ea7c9e2d4911b5f5f7296b7eeb651d94
Autor:
Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Reinhard, Carola, Gómez-Andrés, David, Jean-François Desaphy, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J., Synofzik, Matthis, Riess, Olaf, Rabah Ben Yaou, Evangelista, Teresinha, Thiloka Ratnaike, Bros-Facer, Virginie, Gulcin Gumus, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Additional file 4. PRISMA Flow Diagram.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f01f225980395e2592392e442c064a4f
Autor:
Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Reinhard, Carola, Gómez-Andrés, David, Desaphy, Jean-François, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J., Synofzik, Matthis, Riess, Olaf, Yaou, Rabah Ben, Evangelista, Teresinha, Ratnaike, Thiloka, Bros-Facer, Virginie, Gumus, Gulcin, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients waiting 5 to 30 years for one
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::11c5b43b827d4c76808c4e438f67bfbf
Autor:
Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Rheinard, Carola, Gómez-Andrés, David, Jean-François Desaphy, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J., Synofzik, Matthis, Riess, Olaf, Rabah Ben Yaou, Evangelista, Teresinha, Thiloka Ratnaike, Bros-Facer, Virginie, Gulcin Gumus, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Additional file 1. Systematic Review Protocol.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61cc8c33b188295e525f6e6a47dc34eb
Autor:
Atalaia, Antonio, Thompson, Rachel, Corvo, Alberto, Carmody, Leigh, Piscia, Davide, Matalonga, Leslie, Macaya, Alfons, Lochmuller, Angela, Fontaine, Bertrand, Zurek, Birte, Hernandez-Ferrer, Carles, Reinhard, Carola, Gómez-Andrés, David, Jean-François Desaphy, Schon, Katherine, Lohmann, Katja, Jennings, Matthew J., Synofzik, Matthis, Riess, Olaf, Rabah Ben Yaou, Evangelista, Teresinha, Thiloka Ratnaike, Bros-Facer, Virginie, Gulcin Gumus, Horvath, Rita, Chinnery, Patrick, Laurie, Steven, Graessner, Holm, Robinson, Peter, Lochmuller, Hanns, Beltran, Sergi, Bonne, Gisèle
Additional file 3. Data Capture Form.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2cf0a41778ed8cf7af35b5dacf649574