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Journal of Medicinal Chemistry|May 9, 1998
The selective 5-HT1B receptor inverse agonist 1'-methyl-5-[[2'-methyl-4'-(5-methyl-1,2, 4-oxadiazol-3-yl)biphenyl-4-yl]carbonyl]-2,3,6,7-tetrahydro- spiro[furo[2,3-f]indole-3,4'-piperidine] (SB-224289) potently blocks terminal 5-HT autoreceptor function both in vitro and in vivoL M Gaster, F E Blaney, S Davies, et al.Neurology|February 10, 2019
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophyMarjo S van der Knaap, Marianna Bugiani, Marisa I Mendes, et al.Journal of Animal Science|October 7, 2015
Technical note: Digital quantification of eye pigmentation of cattle with white facesK M Davis, T Smith, B Bolt, et al.Genetics and Molecular Research : GMR|March 25, 2017
SNP detection using RNA-sequences of candidate genes associated with puberty in cattleM M Dias, A Cánovas, C Mantilla-Rojas, et al.Journal of Medical Genetics|July 5, 2022
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humansSamir Bouasker, Nisha Patel, Rebecca Greenlees, et al.Human Molecular Genetics|February 11, 2022
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial diseaseRichard G Lee, Shanti Balasubramaniam, Maike Stentenbach, et al.Movement Disorders : Official Journal of the Movement Disorder Society|October 1, 2021
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb InvolvementMichael Zech, Kishore R Kumar, Sophie Reining, et al.Haematologica|July 21, 2018
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2Lisa G Riley, Matthew M Heeney, Joëlle Rudinger-Thirion, et al.American Journal of Human Genetics|November 8, 2016
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderGali Heimer, Juha M Kerätär, Lisa G Riley, et al.Molecular Biology and Evolution|February 2, 2021
Analysis of Polycerate Mutants Reveals the Evolutionary Co-option of HOXD1 for Horn Patterning in BovidaeAurélie Allais-Bonnet, Aurélie Hintermann, Marie-Christine Deloche, et al.Pageof 50