All papers authored by Rami Abou Jamra
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2023
Elisabeth Bosch 
,
Bernt Popp ,
Esther Güse ,
Cindy Skinner ,
Pleuntje J. van der Sluijs ,
Isabelle Maystadt ,
Anna Maria Pinto ,
Alessandra Renieri ,
Lucia Pia Bruno,
Stefania Granata,
Carlo Marcelis ,
Özlem Baysal ,
Dewi Hartwich,
Laura Holthöfer ,
Bertrand Isidor
and 57 other authors
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,
Bernt Popp ,
Esther Güse ,
Cindy Skinner ,
Pleuntje J. van der Sluijs ,
Isabelle Maystadt ,
Anna Maria Pinto ,
Alessandra Renieri ,
Lucia Pia Bruno,
Stefania Granata,
Carlo Marcelis ,
Özlem Baysal ,
Dewi Hartwich,
Laura Holthöfer ,
Bertrand Isidor
and 57 other authors
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2022
Konrad Platzer ,
Heinrich Sticht ,
Caleb Bupp ,
Mythily Ganapathi ,
Elaine M. Pereira ,
Gwenaël Le Guyader ,
Frederic Bilan ,
Lindsay B. Henderson,
Johannes R. Lemke ,
Holger Taschenberger ,
Nils Brose ,
Rami Abou Jamra ,
Sonja M. Wojcik
Download from onlinelibrary.wiley.com
,
Heinrich Sticht ,
Caleb Bupp ,
Mythily Ganapathi ,
Elaine M. Pereira ,
Gwenaël Le Guyader ,
Frederic Bilan ,
Lindsay B. Henderson,
Johannes R. Lemke ,
Holger Taschenberger ,
Nils Brose ,
Rami Abou Jamra ,
Sonja M. Wojcik
Download from onlinelibrary.wiley.com
Chiara Klöckner ,
J. Pedro Fernández-Murray ,
Mahtab Tavasoli ,
Heinrich Sticht ,
Gisela Stoltenburg-Didinger ,
Leila Motlagh Scholle ,
Somayeh Bakhtiari,
Michael C. Kruer ,
Hossein Darvish,
Saghar Ghasemi Firouzabadi ,
Alex Pagnozzi,
Anju Shukla ,
Katta Mohan Girisha ,
Dhanya Lakshmi Narayanan ,
Parneet Kaur
and 14 other authors
,
J. Pedro Fernández-Murray ,
Mahtab Tavasoli ,
Heinrich Sticht ,
Gisela Stoltenburg-Didinger ,
Leila Motlagh Scholle ,
Somayeh Bakhtiari,
Michael C. Kruer ,
Hossein Darvish,
Saghar Ghasemi Firouzabadi ,
Alex Pagnozzi,
Anju Shukla ,
Katta Mohan Girisha ,
Dhanya Lakshmi Narayanan ,
Parneet Kaur
and 14 other authors
Bi-allelic variants inCHKAcause a neurodevelopmental disorder with epilepsy and microcephaly
Download from academic.oup.com
2020
Diana Le Duc ,
Julia Hentschel,
Sonja Neuser,
Mathias Stiller,
Carolin Meier,
Elisabeth Jäger ,
Rami Abou Jamra ,
Konrad Platzer,
Astrid Monecke,
Mirjana Ziemer,
Aleksander Markovic,
Hendrik Bläker,
Johannes R. Lemke
,
Julia Hentschel,
Sonja Neuser,
Mathias Stiller,
Carolin Meier,
Elisabeth Jäger ,
Rami Abou Jamra ,
Konrad Platzer,
Astrid Monecke,
Mirjana Ziemer,
Aleksander Markovic,
Hendrik Bläker,
Johannes R. Lemke
In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas
Download from www.nature.com
Davor Lessel ,
Daniela M. Zeitler,
Margot R. F. Reijnders ,
Andriy Kazantsev ,
Fatemeh Hassani Nia ,
Alexander Bartholomäus ,
Victoria Martens,
Astrid Bruckmann,
Veronika Graus,
Allyn McConkie-Rosell,
Marie McDonald,
Bernarda Lozic,
Ee-Shien Tan,
Erica Gerkes,
Jessika Johannsen
and 52 other authors
,
Daniela M. Zeitler,
Margot R. F. Reijnders ,
Andriy Kazantsev ,
Fatemeh Hassani Nia ,
Alexander Bartholomäus ,
Victoria Martens,
Astrid Bruckmann,
Veronika Graus,
Allyn McConkie-Rosell,
Marie McDonald,
Bernarda Lozic,
Ee-Shien Tan,
Erica Gerkes,
Jessika Johannsen
and 52 other authors
Germline AGO2 mutations impair RNA interference and human neurological development
Download from www.nature.com
2019
Katrine M. Johannesen ,
Diana Mitter ,
Robert Janowski ,
Christian Roth,
Joseph Toulouse ,
Anne-Lise Poulat,
Dorothee M. Ville ,
Nicolas Chatron ,
Eva Brilstra ,
Karin Geleijns,
Alfred Peter Born,
Scott McLean ,
Kimberly Nugent ,
Gareth Baynam ,
Cathryn Poulton
and 23 other authors
,
Diana Mitter ,
Robert Janowski ,
Christian Roth,
Joseph Toulouse ,
Anne-Lise Poulat,
Dorothee M. Ville ,
Nicolas Chatron ,
Eva Brilstra ,
Karin Geleijns,
Alfred Peter Born,
Scott McLean ,
Kimberly Nugent ,
Gareth Baynam ,
Cathryn Poulton
and 23 other authors
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
Download from doi.org
2018
Konrad Platzer,
Benjamin Cogné,
Jennifer Hague,
Carlo L. Marcelis,
Diana Mitter,
Katrin Oberndorff,
Soo‐Mi Park,
Hans K. Ploos van Amstel,
Ingrid Simonic,
Jasper J. van der Smagt,
Alexander P. A. Stegmann ,
Servi J. C. Stevens,
Constance T. R. M. Stumpel,
Marie Vincent,
Johannes R. Lemke
and 1 other authors
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,
Servi J. C. Stevens,
Constance T. R. M. Stumpel,
Marie Vincent,
Johannes R. Lemke
and 1 other authors
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