Bader Alhaddad

ORCID

Publication Activity (10 Years)

Years Active: 2017-2020
Publications (10 Years): 6

Top Venues

European journal of human genetics : EJHG

Neurology. Genetics

Human mutation

Journal of medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Stefanie Perrier, Laurence Gauquelin, Catherine Fallet-Bianco, Megan K Dishop, Mackenzie A Michell-Robinson, Luan T Tran, Kether Guerrero, Lama Darbelli, Myriam Srour, Kevin Petrecca, Deborah L Renaud, Michael Saito, Seth Cohen, Steffen Leiz, Bader Alhaddad, Tobias B Haack, Ingrid Tejera-Martin, Fernando I Monton, Norberto Rodriguez-Espinosa, Daniela Pohl, Savithri Nageswaran, Annette Grefe, Emma Glamuzina, Geneviève Bernard
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy. Neurology. Genetics 6 (3) (2020)
Christiane M Neuhofer, Claudia B Catarino, Heinrich Schmidt, Klaus Seelos, Bader Alhaddad, Tobias B Haack, Florentine Radelfahr
LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum. Neurology. Genetics 6 (5) (2020)
Matthias Christoph Braunisch, Korbinian Maria Riedhammer, Pierre-Maurice Herr, Sarah Draut, Roman Günthner, Matias Wagner, Marc Weidenbusch, Adrian Lungu, Bader Alhaddad, Lutz Renders, Tim M Strom, Uwe Heemann, Thomas Meitinger, Christoph Schmaderer, Julia Hoefele
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS. European journal of human genetics : EJHG 29 (2) (2020)
Sanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, Matthias Braunisch, Georg F Hoffmann, Urania Kotzaeridou, Lucia Lichvarova, Mailis Liiv, Christine Makowski, Merle Mandel, Thomas Meitinger, Sander Pajusalu, Richard J T Rodenburg, Dzhamilja Safiulina, Tim M Strom, Inga Talvik, Annika Vaarmann, Callum Wilson, Allen Kaasik, Tobias B Haack, Katrin Õunap
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency. European journal of human genetics : EJHG 26 (3) (2018)
Benjamin Roeben, Rebecca Schüle, Susanne Ruf, Benjamin Bender, Bader Alhaddad, Tanja Benkert, Thomas Meitinger, Selina Reich, Judith Böhringer, Claus-Dieter Langhans, Frédéric M Vaz, Saskia B Wortmann, Thorsten Marquardt, Tobias B Haack, Ingeborg Krägeloh-Mann, Ludger Schöls, Matthis Synofzik
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. Journal of medical genetics 55 (1) (2017)
Ayman W. El-Hattab, Hongzheng Dai, Mohammed Almannai, Julia Wang, Eissa A Faqeih, Ali Al Asmari, Mohammed A M Saleh, Mohammed A O Elamin, Majid Alfadhel, Fowzan S Alkuraya, Mais Hashem, Mazhor S Aldosary, Rawan Almass, Faten B Almutairi, Maysoon Alsagob, Mohammed Al-Owain, Shirin Al-Sharfa, Zuhair N Al-Hassnan, Zuhair Rahbeeni, Mohammed A Al-Muhaizea, Nawal Makhseed, Gretchen K Foskett, David A Stevenson, Natalia Gomez-Ospina, Chung Lee, Richard G Boles, Samantha A Schrier Vergano, Saskia B Wortmann, Wolfgang Sperl, Thomas Opladen, Georg F Hoffmann, Maja Hempel, Holger Prokisch, Bader Alhaddad, Johannes Adalbert Mayr, Wenyaw Chan, Namik Kaya, Lee-Jun C Wong
Molecular and clinical spectra of FBXL4 deficiency. Human mutation 38 (12) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Bader Alhaddad