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De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. [electronic resource] by
- Esmaeeli Nieh, Sahar
- Madou, Maura R Z
- Sirajuddin, Minhajuddin
- Fregeau, Brieana
- McKnight, Dianalee
- Lexa, Katrina
- Strober, Jonathan
- Spaeth, Christine
- Hallinan, Barbara E
- Smaoui, Nizar
- Pappas, John G
- Burrow, Thomas A
- McDonald, Marie T
- Latibashvili, Mariam
- Leshinsky-Silver, Esther
- Lev, Dorit
- Blumkin, Luba
- Vale, Ronald D
- Barkovich, Anthony James
- Sherr, Elliott H
Producer: 20150630
In:
Annals of clinical and translational neurology vol. 2
Availability: No items available.
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11.
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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. [electronic resource] by
- Salpietro, Vincenzo
- Malintan, Nancy T
- Llano-Rivas, Isabel
- Spaeth, Christine G
- Efthymiou, Stephanie
- Striano, Pasquale
- Vandrovcova, Jana
- Cutrupi, Maria C
- Chimenz, Roberto
- David, Emanuele
- Di Rosa, Gabriella
- Marce-Grau, Anna
- Raspall-Chaure, Miquel
- Martin-Hernandez, Elena
- Zara, Federico
- Minetti, Carlo
- Bello, Oscar D
- De Zorzi, Rita
- Fortuna, Sara
- Dauber, Andrew
- Alkhawaja, Mariam
- Sultan, Tipu
- Mankad, Kshitij
- Vitobello, Antonio
- Thomas, Quentin
- Mau-Them, Frederic Tran
- Faivre, Laurence
- Martinez-Azorin, Francisco
- Prada, Carlos E
- Macaya, Alfons
- Kullmann, Dimitri M
- Rothman, James E
- Krishnakumar, Shyam S
- Houlden, Henry
Producer: 20200203
In:
American journal of human genetics vol. 104
Availability: No items available.
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