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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet. 2024 Apr 4;111(4):778-790. doi: 10.1016/j.ajhg.2024.02.016. Epub 2024 Mar 25.
Am J Hum Genet. 2024.
PMID: 38531365
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B; Care4Rare Canada Consortium; Undiagnosed Diseases Network; Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Juusola J, Yang J.
Mullegama SV, et al. Among authors: pavlovsky e.
Am J Hum Genet. 2024 May 14:S0002-9297(24)00167-8. doi: 10.1016/j.ajhg.2024.05.004. Online ahead of print.
Am J Hum Genet. 2024.
PMID: 38749428
No abstract available.
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Tracking down virus; research in the U.S.S.R.
PAVLOVSKY EN.
PAVLOVSKY EN.
Australas J Pharm. 1947 Jun;28(330):503.
Australas J Pharm. 1947.
PMID: 20258348
No abstract available.
Item in Clipboard
On the theory of natural foci of the human communicable diseases.
PAVLOVSKY ER.
PAVLOVSKY ER.
J Sci Ind Res (1942). 1947 Feb;6(2):74-6.
J Sci Ind Res (1942). 1947.
PMID: 20245279
No abstract available.
Item in Clipboard
[On the possibility of the transmission of the spirochetes of tick recurrent fever by Ornithodorus lahorensis to monkeys and man].
PAVLOVSKY EN, KUZMINA LA.
PAVLOVSKY EN, et al.
Med Parazitol (Mosk). 1945;14(3):66-70.
Med Parazitol (Mosk). 1945.
PMID: 20280625
Undetermined Language.
No abstract available.
Item in Clipboard
[Natural endemicity of tick recurrent fever in the Turkoman Socialist Soviet Republic].
PAVLOVSKY EN.
PAVLOVSKY EN.
Med Parazitol (Mosk). 1945;14(3):56-9.
Med Parazitol (Mosk). 1945.
PMID: 20280623
Undetermined Language.
No abstract available.
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