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82 Ergebnisse für "azzarello"

UZH - Institut für Medizinische Molekulargenetik - Publications 2010

... A, Azzarello-Burri S, Steiner B, Nygren AOH, Carrel T, Steinmann B, Mátyás G (2010) Hemizygous ... , Henggeler C, Regenass S, Patrignani A, Azzarello-Burri S, Steiner B, Nygren AOH, Carrel T, Steinmann B ...

UZH - Institut für Medizinische Molekulargenetik - Publications 2017

... ,  Magyar I, Koller S, Azzarello-Burri S,  Niedrist D, Heon E, Berger W (2017) C2orf71 mutations as a ... F, Barthelmes   D, Branham K, Khan N, Bahr A, Baehr L,  Magyar I, Koller S, Azzarello-Burri   S ...

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with...

... Gregor, Anne ; Sadleir, Lynette G ; Asadollahi, Reza ; Azzarello-Burri, Silvia ; et al (2018). De ... Variable Neurodevelopmental Disorder Gregor, Anne ; Sadleir, Lynette G ; Asadollahi, Reza ; Azzarello-Burri ... Azzarello-Burri, Silvia University of Zurich, Zurich, Switzerland TrendTerms Help Close help TrendTerms ...

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurode...

... ; Azzarello-Burri, Silvia ; Rauch, Anita ; et al ; Undiagnosed Diseases Network (UDN) (2019). De Novo ... ; Dionne-Laporte, Alexandre ; Joset, Pascal ; Azzarello-Burri, Silvia ; Rauch, Anita ; et al ; Undiagnosed ... , Zurich, Switzerland Azzarello-Burri, Silvia University of Zurich, Zurich, Switzerland Rauch, Anita ...

Dosage changes of MED13L further delineate its role in congenital h...

... and intellectual disability Asadollahi, Reza ; Oneda, Beatrice ; Sheth, Frenny ; Azzarello-Burri ... defects and intellectual disability Asadollahi, Reza ; Oneda, Beatrice ; Sheth, Frenny ; Azzarello-Burri ... Institute of Human Genetics, Ahmedabad, India Azzarello-Burri, Silvia University of Zurich, Zurich ...

A newly recognized 13q12.3 microdeletion syndrome characterized by ...

... , Deborah ; Stray-Pedersen, Asbjørg ; Azzarello-Burri, Silvia ; Kibaek, Maria ; Kirchhoff, Maria ; Oneda ... -Pedersen, Asbjørg ; Azzarello-Burri, Silvia ; Kibaek, Maria ; Kirchhoff, Maria ; Oneda, Beatrice ... Oslo University Hospital, Oslo, Norway Baylor College of Medicine, Houston, Australia Azzarello-Burri ...

Zentrum für Kardiovaskuläre Genetik und Gendiagnostik | 8952 Schlie...

... , Neuenschwander S, Spanaus K, Giunta C, Alonso S, Arnold E, Henggeler C, Regenass S, Patrignani A, Azzarello-Burri ... , Patrignani A, Azzarello-Burri S, Steiner B, Nygren AOH, Carrel T, Steinmann B, Matyas G (2010) Hemizygous ...

Horizontal gaze palsy in two brothers with compound heterozygous RO...

... , Annette ; Boltshauser, Eugen ; Gerth-Kahlert, Christina ; Stahr, Nikolai ; Azzarello-Burri, Silvia ... , Zurich, Switzerland Stahr, Nikolai Kinderspital Zürich, Zurich, Switzerland Azzarello-Burri, Silvia ...

Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders - Z...

... ; Azzarello-Burri, Silvia ; Niedrist, Dunja ; Baldinger, Rosa ; Masood, Rahim ; Schinzel, Albert ; Latal, Bea ... , Zurich, Switzerland Asadollahi, Reza University of Zurich, Zurich, Switzerland Azzarello-Burri, Silvia ...

Prevalence of genetic susceptibility for breast and ovarian cancer ...

... , Dennis ; Azzarello-Burri, Silvia ; Steindl, Katharina ; Boonsawat, Paranchai ; Zweier, Markus ; Dedes ... : secondary germline findings from a Swiss single centre cohort Kraemer, Dennis ; Azzarello-Burri, Silvia ... -0001-7084-2068 Azzarello-Burri, Silvia Steindl, Katharina https://orcid.org/0000-0002-4425-3072 ...

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