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Farmaco (Societa Chimica Italiana : 1989)|May 12, 2001
Piperidine renin inhibitors: from leads to drug candidatesH P Märki, A Binggeli, B Bittner, et al.
Genome Medicine|October 14, 2021
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseasesFrancisco M De La Vega, Shimul Chowdhury, Barry Moore, et al.
HGG Advances|June 14, 2025
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia PigmentiMonica H Wojcik, Robin D Clark, Abdallah F Elias, et al.
Research Square|February 20, 2025
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia PigmentiMonica H Wojcik, Robin D Clark, Abdallah F Elias, et al.
The American Journal of Psychiatry|August 24, 2022
Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum DisorderCatherine A Brownstein, Elise Douard, Josephine Mollon, et al.
The Journal of Pharmacology and Experimental Therapeutics|August 26, 2009
In vitro and in vivo properties of 3-tert-butyl-7-(5-methylisoxazol-3-yl)-2-(1-methyl-1H-1,2,4-triazol-5-ylmethoxy)-pyrazolo[1,5-d]-[1,2,4]triazine (MRK-016), a GABAA receptor alpha5 subtype-selective inverse agonistJohn R Atack, Karen A Maubach, Keith A Wafford, et al.
American Journal of Human Genetics|July 23, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
Neurology|October 3, 2022
The Phenotypic Continuum of ATP1A3-Related DisordersAikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, et al.
American Journal of Human Genetics|November 24, 2020
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical DefectsAnna R Duncan, Antonio Vitobello, Stephan C Collins, et al.
American Journal of Human Genetics|March 21, 2020
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic DecompensationDongxue Mao, Chloe M Reuter, Maura R Z Ruzhnikov, et al.
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