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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
JAMA Neurol. 2022 Dec 1;79(12):1267-1276. doi: 10.1001/jamaneurol.2022.3651.
JAMA Neurol. 2022.
PMID: 36315135
Free PMC article.
Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain.
Tibbe D, Ferle P, Krisp C, Nampoothiri S, Mirzaa G, Assaf M, Parikh S, Kutsche K, Kreienkamp HJ.
Tibbe D, et al.
Life Sci Alliance. 2022 Sep 22;5(10):e202201512. doi: 10.26508/lsa.202201512. Print 2022 Oct.
Life Sci Alliance. 2022.
PMID: 36137748
Free PMC article.
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Two Children with Early-Onset Strokes and Intractable Epilepsy, Both with CACNA1A Mutations.
Bolte KN, Assaf M, Zach T, Peche S.
Bolte KN, et al.
Child Neurol Open. 2022 Apr 27;9:2329048X221094977. doi: 10.1177/2329048X221094977. eCollection 2022 Jan-Dec.
Child Neurol Open. 2022.
PMID: 35497372
Free PMC article.
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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Kayumi S, Pérez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, García-Miñaúr S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-Míguez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fernández-Cuesta MÁ, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-François L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA.
Kayumi S, et al. Among authors: assaf m.
Genet Med. 2022 Nov;24(11):2351-2366. doi: 10.1016/j.gim.2022.08.006. Epub 2022 Sep 9.
Genet Med. 2022.
PMID: 36083290
Free PMC article.
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Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.
Krab LC, Marcos-Alcalde I, Assaf M, Balasubramanian M, Andersen JB, Bisgaard AM, Fitzpatrick DR, Gudmundsson S, Huisman SA, Kalayci T, Maas SM, Martinez F, McKee S, Menke LA, Mulder PA, Murch OD, Parker M, Pie J, Ramos FJ, Rieubland C, Rosenfeld Mokry JA, Scarano E, Shinawi M, Gómez-Puertas P, Tümer Z, Hennekam RC.
Krab LC, et al.
Hum Genet. 2020 May;139(5):575-592. doi: 10.1007/s00439-020-02138-2. Epub 2020 Mar 19.
Hum Genet. 2020.
PMID: 32193685
Free PMC article.
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