Spectrum Health
Hospital
Location:
Grand Rapids, MI,
United States (USA) (US)
ISNI: 0000000404063236
ROR: https://ror.org/02ahxdd04
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De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission (2022)
Platzer K, Sticht H, Bupp C, Ganapathi M, Pereira EM, Le Guyader G, Bilan F, et al.
Journal article
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6 (2022)
Gerber CB, Fliedner A, Bartsch O, Berland S, Dewenter M, Haug M, Hayes I, et al.
Journal article
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities (2021)
Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, et al.
Journal article
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior (2021)
Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, et al.
Journal article