All papers authored by Aida Bertoli-Avella
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2024
V. Kartik Chundru 
,
Zhancheng Zhang,
Klaudia Walter ,
Sarah J. Lindsay ,
Petr Danecek,
Ruth Y. Eberhardt ,
Eugene J. Gardner ,
Daniel S. Malawsky,
Emilie M. Wigdor,
Rebecca Torene ,
Kyle Retterer,
Caroline F. Wright ,
Hildur Ólafsdóttir,
Maria J. Guillen Sacoto,
Akif Ayaz
and 14 other authors
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,
Zhancheng Zhang,
Klaudia Walter ,
Sarah J. Lindsay ,
Petr Danecek,
Ruth Y. Eberhardt ,
Eugene J. Gardner ,
Daniel S. Malawsky,
Emilie M. Wigdor,
Rebecca Torene ,
Kyle Retterer,
Caroline F. Wright ,
Hildur Ólafsdóttir,
Maria J. Guillen Sacoto,
Akif Ayaz
and 14 other authors
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Ana Westenberger ,
Adriana Ruiz‐Herrera ,
Sevcan Bozdoğan,
Atil Bisgin,
Mohammed Almuqbil,
Amal Alhashem,
Talal Alanzi,
Antonio Romito,
Arndt Rolfs,
Patricia Dias,
Raquel Gouveia Silva,
Aida M. Bertoli‐Avella ,
Peter Bauer ,
Christian Beetz
,
Adriana Ruiz‐Herrera ,
Sevcan Bozdoğan,
Atil Bisgin,
Mohammed Almuqbil,
Amal Alhashem,
Talal Alanzi,
Antonio Romito,
Arndt Rolfs,
Patricia Dias,
Raquel Gouveia Silva,
Aida M. Bertoli‐Avella ,
Peter Bauer ,
Christian Beetz
Spectrum of FAR1 (Fatty Acyl‐CoA Reductase 1) Variants and Related Neurological Conditions
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2022
Erin Janssen ,
Zachary Peters,
Mohammed F. Alosaimi ,
Emma Smith,
Elena Milin,
Kelsey Stafstrom,
Jacqueline G. Wallace ,
Craig D. Platt,
Janet Chou ,
Yasmeen S. El Ansari,
Tariq Al Farsi,
Najim Ameziane,
Ruslan Al-Ali ,
Maria Calvo,
Maria Eugenia Rocha
and 6 other authors
,
Zachary Peters,
Mohammed F. Alosaimi ,
Emma Smith,
Elena Milin,
Kelsey Stafstrom,
Jacqueline G. Wallace ,
Craig D. Platt,
Janet Chou ,
Yasmeen S. El Ansari,
Tariq Al Farsi,
Najim Ameziane,
Ruslan Al-Ali ,
Maria Calvo,
Maria Eugenia Rocha
and 6 other authors
Immune dysregulation caused by homozygous mutations in CBLB
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Elisa Rahikkala ,
Lea Urpa ,
Bishwa Ghimire ,
Hande Topa,
Mitja I. Kurki,
Maryna Koskela,
Mikko Airavaara,
Eija Hämäläinen,
Katri Pylkäs ,
Jarmo Körkkö,
Helena Savolainen,
Anu Suoranta,
Aida Bertoli-Avella ,
Arndt Rolfs,
Pirkko Mattila
and 5 other authors
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,
Lea Urpa ,
Bishwa Ghimire ,
Hande Topa,
Mitja I. Kurki,
Maryna Koskela,
Mikko Airavaara,
Eija Hämäläinen,
Katri Pylkäs ,
Jarmo Körkkö,
Helena Savolainen,
Anu Suoranta,
Aida Bertoli-Avella ,
Arndt Rolfs,
Pirkko Mattila
and 5 other authors
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2021
Aida Bertoli-Avella ,
Ronja Hotakainen,
Maryam Al Shehhi,
Alice Urzi,
Catarina Pareira,
Anett Marais,
Khoula Al Shidhani,
Sumaya Aloraimi,
Galina Morales-Torres,
Steffen Fisher,
Laura Demuth,
Laila Abdel Moteleb Selim,
Nihal Al Menabawy,
Maryam Busehail,
Mohammed AlShaikh
and 24 other authors
,
Ronja Hotakainen,
Maryam Al Shehhi,
Alice Urzi,
Catarina Pareira,
Anett Marais,
Khoula Al Shidhani,
Sumaya Aloraimi,
Galina Morales-Torres,
Steffen Fisher,
Laura Demuth,
Laila Abdel Moteleb Selim,
Nihal Al Menabawy,
Maryam Busehail,
Mohammed AlShaikh
and 24 other authors
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene
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Aida M. Bertoli-Avella ,
Krishna K. Kandaswamy,
Suliman Khan,
Natalia Ordonez-Herrera,
Kornelia Tripolszki,
Christian Beetz,
Maria Eugenia Rocha,
Alize Urzi,
Ronja Hotakainen,
Anika Leubauer,
Ruslan Al-Ali,
Vasiliki Karageorgou,
Oana Moldovan,
Patrícia Dias,
Amal Alhashem
and 22 other authors
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,
Krishna K. Kandaswamy,
Suliman Khan,
Natalia Ordonez-Herrera,
Kornelia Tripolszki,
Christian Beetz,
Maria Eugenia Rocha,
Alize Urzi,
Ronja Hotakainen,
Anika Leubauer,
Ruslan Al-Ali,
Vasiliki Karageorgou,
Oana Moldovan,
Patrícia Dias,
Amal Alhashem
and 22 other authors
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Tom Le Voyer,
Anna-Lena Neehus ,
Rui Yang,
Masato Ogishi,
Jérémie Rosain ,
Fayhan Alroqi,
Maha Alshalan,
Sophie Blumental ,
Fatima Al Ali,
Taushif Khan ,
Manar Ata ,
Laurence Rozen ,
Anne Demulder ,
Paul Bastard ,
Conor Gruber
and 25 other authors
,
Rui Yang,
Masato Ogishi,
Jérémie Rosain ,
Fayhan Alroqi,
Maha Alshalan,
Sophie Blumental ,
Fatima Al Ali,
Taushif Khan ,
Manar Ata ,
Laurence Rozen ,
Anne Demulder ,
Paul Bastard ,
Conor Gruber
and 25 other authors
Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease
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Aida M. Bertoli-Avella ,
Christian Beetz ,
Najim Ameziane ,
Peter Bauer
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,
Christian Beetz ,
Najim Ameziane ,
Peter Bauer
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Juliette Dupont ,
José Pedro Vieira,
Ana Lisa Taylor Tavares,
Carla Ribeiro Conceição,
Suliman Khan,
Aida Maria Bertoli‐Avella ,
Ana Berta Sousa
,
José Pedro Vieira,
Ana Lisa Taylor Tavares,
Carla Ribeiro Conceição,
Suliman Khan,
Aida Maria Bertoli‐Avella ,
Ana Berta Sousa
Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders
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2020
Lia Abbasi‐Moheb,
Ana Westenberger ,
Maha Alotaibi ,
Malak Ali Alghamdi ,
Jozef L. Hertecant,
Amir Ariamand,
Christian Beetz ,
Arndt Rolfs,
Aida M. Bertoli‐Avella ,
Peter Bauer
,
Maha Alotaibi ,
Malak Ali Alghamdi ,
Jozef L. Hertecant,
Amir Ariamand,
Christian Beetz ,
Arndt Rolfs,
Aida M. Bertoli‐Avella ,
Peter Bauer
Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy
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Kornelia Tripolszki,
Erina Sasaki,
Ronja Hotakainen ,
Abdul Halim Kassim,
Catarina Pereira,
Arndt Rolfs,
Peter Bauer ,
William Reardon,
Aida M. Bertoli‐Avella
Download from onlinelibrary.wiley.com
,
Abdul Halim Kassim,
Catarina Pereira,
Arndt Rolfs,
Peter Bauer ,
William Reardon,
Aida M. Bertoli‐Avella
Download from onlinelibrary.wiley.com
Huma Cheema,
Aida M. Bertoli-Avella ,
Volha Skrahina,
Muhammad Nadeem Anjum,
Nadia Waheed,
Anjum Saeed,
Christian Beetz,
Jordi Perez-Lopez,
Maria Eugenia Rocha,
Salem Alawbathani,
Catarina Pereira,
Marina Hovakimyan,
Irene Rosita Pia Patric,
Omid Paknia,
Najim Ameziane
and 3 other authors
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,
Volha Skrahina,
Muhammad Nadeem Anjum,
Nadia Waheed,
Anjum Saeed,
Christian Beetz,
Jordi Perez-Lopez,
Maria Eugenia Rocha,
Salem Alawbathani,
Catarina Pereira,
Marina Hovakimyan,
Irene Rosita Pia Patric,
Omid Paknia,
Najim Ameziane
and 3 other authors
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Aida M. Bertoli-Avella ,
Christian Beetz ,
Najim Ameziane,
Maria Eugenia Rocha,
Pilar Guatibonza,
Catarina Pereira,
Maria Calvo ,
Natalia Herrera-Ordonez,
Monica Segura-Castel,
Dan Diego-Alvarez,
Michal Zawada,
Krishna K. Kandaswamy,
Martin Werber,
Omid Paknia,
Susan Zielske
and 20 other authors
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,
Christian Beetz ,
Najim Ameziane,
Maria Eugenia Rocha,
Pilar Guatibonza,
Catarina Pereira,
Maria Calvo ,
Natalia Herrera-Ordonez,
Monica Segura-Castel,
Dan Diego-Alvarez,
Michal Zawada,
Krishna K. Kandaswamy,
Martin Werber,
Omid Paknia,
Susan Zielske
and 20 other authors
Download from www.nature.com
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