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Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer.
Sci Adv. 2020 Jan 22;6(4):eaax0021. doi: 10.1126/sciadv.aax0021. eCollection 2020 Jan.
Sci Adv. 2020.
PMID: 32010779
Free PMC article.
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
Okur V, Chen Z, Vossaert L, Peacock S, Rosenfeld J, Zhao L, Du H, Calamaro E, Gerard A, Zhao S, Kelsay J, Lahr A, Mighton C, Porter HM, Siemon A, Silver J, Svihovec S, Fong CT, Grant CL, Lerner-Ellis J, Manickam K, Madan-Khetarpal S, McCandless SE, Morel CF, Schaefer GB, Berry-Kravis EM, Gates R, Gomez-Ospina N, Qiu G, Zhang TJ, Wu Z, Meng L, Liu P, Scott DA, Lupski JR, Eng CM, Wu N, Yuan B.
Okur V, et al. Among authors: porter hm.
NPJ Genom Med. 2021 Dec 7;6(1):104. doi: 10.1038/s41525-021-00268-8.
NPJ Genom Med. 2021.
PMID: 34876591
Free PMC article.
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Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Lin SJ, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon ML, Rüschendorf F, Kong IK, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim HG, Varshney GK.
Lin SJ, et al. Among authors: porter hm.
Hum Mutat. 2022 Oct;43(10):1472-1489. doi: 10.1002/humu.24435. Epub 2022 Jul 21.
Hum Mutat. 2022.
PMID: 35815345
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Immunologic studies in congenital agammaglobulinemia with emphasis on delayed hypersensitivity.
PORTER HM.
PORTER HM.
Pediatrics. 1957 Dec;20(6):958-65.
Pediatrics. 1957.
PMID: 13484334
No abstract available.
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The demonstration of delayed-type reactivity in congenital agammaglobulinemia.
PORTER HM.
PORTER HM.
Ann N Y Acad Sci. 1957 Mar 22;64(5):932-5; discussion, 935-6. doi: 10.1111/j.1749-6632.1957.tb52484.x.
Ann N Y Acad Sci. 1957.
PMID: 13411929
No abstract available.
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