Laura Cif
5PUBLICATIONS
22CO-AUTHORS
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Publications (5)
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|May 20, 2025
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803.Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou
|Feb 24, 2025
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.Laura Cif, Diane Demailly, Jean-Pierre Lin
|Dec 01, 2023
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.Berardo Rinaldi, Allan Bayat, Linda G Zachariassen
|Jun 23, 2022
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.Matthew N Bainbridge, Aloran Mazumder, Daisuke Ogasawara
|Jun 02, 2021
Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome.Jennifer Friedman, Lynne M Bird, Richard Haas
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Frequent Collaborators
1 joint publications
Enrico Bertini
1 joint publications
Siddharth Srivastava
1 joint publications
Isabella Thiffault
1 joint publications
Svasti Haricharan
1 joint publications
Ali Torkamani
1 joint publications
Berardo Rinaldi
1 joint publications
Allan Bayat
1 joint publications
Mélanie Fradin
1 joint publications
Vincent Cruz
1 joint publications
John Christodoulou
