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Items where Author is "Bartholdi, Deborah"

Items where Author is "Bartholdi, Deborah"

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C5orf42 ciliopathies clinical genetics copy-number developmental diagnostics genome-wide KIF7 SHH
Number of items: 9.

C5orf42

Asadollahi, Reza ORCID logoORCID: https://orcid.org/0000-0002-1497-0564, Strauss, Justin E, Zenker, Martin, Beuing, Oliver ORCID logoORCID: https://orcid.org/0000-0001-8033-063X, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M, Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula, Ekici, Arif B ORCID logoORCID: https://orcid.org/0000-0001-6099-7066, Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael ORCID logoORCID: https://orcid.org/0000-0001-8305-7114, Schinzel, Albert, Stoeckli, Esther T and Rauch, Anita ORCID logoORCID: https://orcid.org/0000-0003-2930-3163 (2018) Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. European Journal of Human Genetics, 26 (2). pp. 197-209. ISSN 1018-4813 (Print), 1476-5438 (Online) (doi:10.1038/s41431-017-0019-9)

ciliopathies

Asadollahi, Reza ORCID logoORCID: https://orcid.org/0000-0002-1497-0564, Strauss, Justin E, Zenker, Martin, Beuing, Oliver ORCID logoORCID: https://orcid.org/0000-0001-8033-063X, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M, Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula, Ekici, Arif B ORCID logoORCID: https://orcid.org/0000-0001-6099-7066, Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael ORCID logoORCID: https://orcid.org/0000-0001-8305-7114, Schinzel, Albert, Stoeckli, Esther T and Rauch, Anita ORCID logoORCID: https://orcid.org/0000-0003-2930-3163 (2018) Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. European Journal of Human Genetics, 26 (2). pp. 197-209. ISSN 1018-4813 (Print), 1476-5438 (Online) (doi:10.1038/s41431-017-0019-9)

clinical genetics

Asadollahi, Reza ORCID logoORCID: https://orcid.org/0000-0002-1497-0564, Oneda, Beatrice, Joset, Pascal, Azzarello-Burri, Silvia, Bartholdi, Deborah, Steindl, Katharina, Vincent, Marie, Cobilanschi, Joana, Sticht, Heinrich, Baldinger, Rosa, Reissmann, Regina, Sudholt, Irene, Thiel, Christian T, Ekici, Arif B, Reis, André, Bijlsma, Emilia K, Andrieux, Joris, Dieux, Anne, FitzPatrick, David, Ritter, Susanne, Baumer, Alessandra, Latal, Beatrice, Plecko, Barbara, Jenni, Oskar G and Rauch, Anita (2014) The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of Medical Genetics, 51 (10). pp. 677-688. ISSN 0022-2593 (Print), 1468-6244 (Online) (doi:10.1136/jmedgenet-2014-102588)

copy-number

Asadollahi, Reza ORCID logoORCID: https://orcid.org/0000-0002-1497-0564, Oneda, Beatrice, Joset, Pascal, Azzarello-Burri, Silvia, Bartholdi, Deborah, Steindl, Katharina, Vincent, Marie, Cobilanschi, Joana, Sticht, Heinrich, Baldinger, Rosa, Reissmann, Regina, Sudholt, Irene, Thiel, Christian T, Ekici, Arif B, Reis, André, Bijlsma, Emilia K, Andrieux, Joris, Dieux, Anne, FitzPatrick, David, Ritter, Susanne, Baumer, Alessandra, Latal, Beatrice, Plecko, Barbara, Jenni, Oskar G and Rauch, Anita (2014) The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of Medical Genetics, 51 (10). pp. 677-688. ISSN 0022-2593 (Print), 1468-6244 (Online) (doi:10.1136/jmedgenet-2014-102588)

developmental

Asadollahi, Reza ORCID logoORCID: https://orcid.org/0000-0002-1497-0564, Oneda, Beatrice, Joset, Pascal, Azzarello-Burri, Silvia, Bartholdi, Deborah, Steindl, Katharina, Vincent, Marie, Cobilanschi, Joana, Sticht, Heinrich, Baldinger, Rosa, Reissmann, Regina, Sudholt, Irene, Thiel, Christian T, Ekici, Arif B, Reis, André, Bijlsma, Emilia K, Andrieux, Joris, Dieux, Anne, FitzPatrick, David, Ritter, Susanne, Baumer, Alessandra, Latal, Beatrice, Plecko, Barbara, Jenni, Oskar G and Rauch, Anita (2014) The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of Medical Genetics, 51 (10). pp. 677-688. ISSN 0022-2593 (Print), 1468-6244 (Online) (doi:10.1136/jmedgenet-2014-102588)

diagnostics

Asadollahi, Reza ORCID logoORCID: https://orcid.org/0000-0002-1497-0564, Oneda, Beatrice, Joset, Pascal, Azzarello-Burri, Silvia, Bartholdi, Deborah, Steindl, Katharina, Vincent, Marie, Cobilanschi, Joana, Sticht, Heinrich, Baldinger, Rosa, Reissmann, Regina, Sudholt, Irene, Thiel, Christian T, Ekici, Arif B, Reis, André, Bijlsma, Emilia K, Andrieux, Joris, Dieux, Anne, FitzPatrick, David, Ritter, Susanne, Baumer, Alessandra, Latal, Beatrice, Plecko, Barbara, Jenni, Oskar G and Rauch, Anita (2014) The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of Medical Genetics, 51 (10). pp. 677-688. ISSN 0022-2593 (Print), 1468-6244 (Online) (doi:10.1136/jmedgenet-2014-102588)

genome-wide

Asadollahi, Reza ORCID logoORCID: https://orcid.org/0000-0002-1497-0564, Oneda, Beatrice, Joset, Pascal, Azzarello-Burri, Silvia, Bartholdi, Deborah, Steindl, Katharina, Vincent, Marie, Cobilanschi, Joana, Sticht, Heinrich, Baldinger, Rosa, Reissmann, Regina, Sudholt, Irene, Thiel, Christian T, Ekici, Arif B, Reis, André, Bijlsma, Emilia K, Andrieux, Joris, Dieux, Anne, FitzPatrick, David, Ritter, Susanne, Baumer, Alessandra, Latal, Beatrice, Plecko, Barbara, Jenni, Oskar G and Rauch, Anita (2014) The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of Medical Genetics, 51 (10). pp. 677-688. ISSN 0022-2593 (Print), 1468-6244 (Online) (doi:10.1136/jmedgenet-2014-102588)

KIF7

Asadollahi, Reza ORCID logoORCID: https://orcid.org/0000-0002-1497-0564, Strauss, Justin E, Zenker, Martin, Beuing, Oliver ORCID logoORCID: https://orcid.org/0000-0001-8033-063X, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M, Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula, Ekici, Arif B ORCID logoORCID: https://orcid.org/0000-0001-6099-7066, Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael ORCID logoORCID: https://orcid.org/0000-0001-8305-7114, Schinzel, Albert, Stoeckli, Esther T and Rauch, Anita ORCID logoORCID: https://orcid.org/0000-0003-2930-3163 (2018) Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. European Journal of Human Genetics, 26 (2). pp. 197-209. ISSN 1018-4813 (Print), 1476-5438 (Online) (doi:10.1038/s41431-017-0019-9)

SHH

Asadollahi, Reza ORCID logoORCID: https://orcid.org/0000-0002-1497-0564, Strauss, Justin E, Zenker, Martin, Beuing, Oliver ORCID logoORCID: https://orcid.org/0000-0001-8033-063X, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M, Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula, Ekici, Arif B ORCID logoORCID: https://orcid.org/0000-0001-6099-7066, Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael ORCID logoORCID: https://orcid.org/0000-0001-8305-7114, Schinzel, Albert, Stoeckli, Esther T and Rauch, Anita ORCID logoORCID: https://orcid.org/0000-0003-2930-3163 (2018) Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. European Journal of Human Genetics, 26 (2). pp. 197-209. ISSN 1018-4813 (Print), 1476-5438 (Online) (doi:10.1038/s41431-017-0019-9)

This list was generated on Sun Dec 22 14:06:42 2024 UTC.