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Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
J Med Genet. 2022 Nov;59(11):1058-1068. doi: 10.1136/jmedgenet-2021-108375. Epub 2022 Mar 1.
J Med Genet. 2022.
PMID: 35232796
Free PMC article.
Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants.
Gileta AF, Helgeson ML, Leonard JMM, Pyle LC, Subramanian HP, Arndt K, Hawkes CP, Del Gaudio D.
Gileta AF, et al. Among authors: leonard jmm.
Am J Med Genet A. 2021 Mar;185(3):889-893. doi: 10.1002/ajmg.a.62023. Epub 2020 Dec 23.
Am J Med Genet A. 2021.
PMID: 33369061
Free PMC article.
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A Case of INPP5E-Related Joubert Syndrome: Connecting Evolving Phenotype With Novel Genotype.
Kumar N, Nomakuchi T, Vossough A, Leonard JMM, Dubbs H, Agarwal S.
Kumar N, et al. Among authors: leonard jmm.
Pediatr Neurol. 2023 Aug;145:112-114. doi: 10.1016/j.pediatrneurol.2023.04.021. Epub 2023 May 2.
Pediatr Neurol. 2023.
PMID: 37315340
No abstract available.
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50 Years Ago in TheJournalofPediatrics: From Chromosomes to Clinical Care: Klinefelter Syndrome.
Pyle LC, Leonard JMM, Krantz ID.
Pyle LC, et al. Among authors: leonard jmm.
J Pediatr. 2022 Apr;243:90. doi: 10.1016/j.jpeds.2021.12.008.
J Pediatr. 2022.
PMID: 35341558
Free PMC article.
No abstract available.
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Diagnostic and management considerations in pseudohypoaldosteronism type 1b.
Kelchtermans J, Pinney SE, Leonard JMM, Mcgrath-Morrow S.
Kelchtermans J, et al. Among authors: leonard jmm.
BMJ Case Rep. 2022 Jan 3;15(1):e246538. doi: 10.1136/bcr-2021-246538.
BMJ Case Rep. 2022.
PMID: 34980640
Free PMC article.
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