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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Nat Commun. 2021 May 7;12(1):2558. doi: 10.1038/s41467-021-22627-w.
Nat Commun. 2021.
PMID: 33963192
Free PMC article.
Biallelic loss of EMC10 leads to mild to severe intellectual disability.
Kaiyrzhanov R, Rocca C, Suri M, Gulieva S, Zaki MS, Henig NZ, Siquier K, Guliyeva U, Mounir SM, Marom D, Allahverdiyeva A, Megahed H, van Bokhoven H, Cantagrel V, Rad A, Pourkeramti A, Dehghani B, Shao DD, Markus-Bustani K, Sofrin-Drucker E, Orenstein N, Salayev K, Arrigoni F, Houlden H, Maroofian R.
Kaiyrzhanov R, et al. Among authors: siquier k.
Ann Clin Transl Neurol. 2022 Jul;9(7):1080-1089. doi: 10.1002/acn3.51602. Epub 2022 Jun 9.
Ann Clin Transl Neurol. 2022.
PMID: 35684946
Free PMC article.
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De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F.
Scala M, et al. Among authors: siquier k.
Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21.
Am J Hum Genet. 2024.
PMID: 38387458
Free PMC article.
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Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.
Duval R, Nicolas G, Willemetz A, Murakami Y, Mikdar M, Vrignaud C, Megahed H, Cartron JP, Masson C, Wehbi S, Koehl B, Hully M, Siquier K, Chemlay N, Rotig A, Lyonnet S, Colin Y, Barcia G, Cantagrel V, Le Van Kim C, Hermine O, Kinoshita T, Peyrard T, Azouzi S.
Duval R, et al. Among authors: siquier k.
Blood. 2021 Jul 1;137(26):3660-3669. doi: 10.1182/blood.2020009810.
Blood. 2021.
PMID: 33763700
Free article.
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Effect of dexamethasone on adipocyte differentiation markers and tumour necrosis factor-alpha expression in human PAZ6 cells.
Zilberfarb V, Siquier K, Strosberg AD, Issad T.
Zilberfarb V, et al. Among authors: siquier k.
Diabetologia. 2001 Mar;44(3):377-86. doi: 10.1007/s001250051630.
Diabetologia. 2001.
PMID: 11317672
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Effect of thiazolidinediones on expression of UCP2 and adipocyte markers in human PAZ6 adipocytes.
Strobel A, Siquier K, Zilberfarb V, Strosberg AD, Issad T.
Strobel A, et al. Among authors: siquier k.
Diabetologia. 1999 May;42(5):527-33. doi: 10.1007/s001250051190.
Diabetologia. 1999.
PMID: 10333043
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Multimodal In Vivo Imaging of Tumorigenesis and Response to Chemotherapy in a Transgenic Mouse Model of Mammary Cancer.
Alberini JL, Boisgard R, Guillermet S, Siquier K, Jego B, Thézé B, Urien S, Rezaï K, Menet E, Maroy R, Dollé F, Kühnast B, Tavitian B.
Alberini JL, et al. Among authors: siquier k.
Mol Imaging Biol. 2016 Aug;18(4):617-26. doi: 10.1007/s11307-015-0916-7.
Mol Imaging Biol. 2016.
PMID: 26630973
Free PMC article.
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Genotype specific age related changes in a transgenic rat model of Huntington's disease.
Blockx I, Van Camp N, Verhoye M, Boisgard R, Dubois A, Jego B, Jonckers E, Raber K, Siquier K, Kuhnast B, Dollé F, Nguyen HP, Von Hörsten S, Tavitian B, Van der Linden A.
Blockx I, et al. Among authors: siquier k.
Neuroimage. 2011 Oct 15;58(4):1006-16. doi: 10.1016/j.neuroimage.2011.07.007. Epub 2011 Jul 13.
Neuroimage. 2011.
PMID: 21767653
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