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Year Number of Results
2005 1
2006 2
2008 1
2013 2
2014 1
2015 1
2016 2
2017 1
2018 2
2020 2
2021 5
2024 0

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Page 1
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A; CAUSES Study; Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J; Genomics England Research Consortium; Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. Chopra M, et al. Among authors: chalouhi c. Am J Hum Genet. 2021 Jun 3;108(6):1138-1150. doi: 10.1016/j.ajhg.2021.04.007. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909992 Free PMC article.
Managing infants with craniofacial malformations - Where to go next?
Poets CF, Abadie V, Breugem C, Wallis C, Abel F, Chalouhi C, Kruisinga F, Sorg AL, Wiechers C. Poets CF, et al. Among authors: chalouhi c. Semin Fetal Neonatal Med. 2021 Dec;26(6):101289. doi: 10.1016/j.siny.2021.101289. Epub 2021 Sep 17. Semin Fetal Neonatal Med. 2021. PMID: 34548245 Review.
Efficiency of prenatal diagnosis in Pierre Robin sequence.
Di Pasquo E, Amiel J, Roth P, Malan V, Lind K, Chalouhi C, Soupre V, Gordon CT, Lyonnet S, Salomon LJ, Abadie V. Di Pasquo E, et al. Among authors: chalouhi c. Prenat Diagn. 2017 Nov;37(11):1169-1175. doi: 10.1002/pd.5162. Epub 2017 Oct 26. Prenat Diagn. 2017. PMID: 28950416
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
Geoffron S, Abi Habib W, Chantot-Bastaraud S, Dubern B, Steunou V, Azzi S, Afenjar A, Busa T, Pinheiro Canton A, Chalouhi C, Dufourg MN, Esteva B, Fradin M, Geneviève D, Heide S, Isidor B, Linglart A, Morice Picard F, Naud-Saudreau C, Oliver Petit I, Philip N, Pienkowski C, Rio M, Rossignol S, Tauber M, Thevenon J, Vu-Hong TA, Harbison MD, Salem J, Brioude F, Netchine I, Giabicani E. Geoffron S, et al. Among authors: chalouhi c. J Clin Endocrinol Metab. 2018 Jul 1;103(7):2436-2446. doi: 10.1210/jc.2017-02152. J Clin Endocrinol Metab. 2018. PMID: 29659920
Scurvy: A New Old Cause of Skeletal Pain in Young Children.
Chalouhi C, Nicolas N, Vegas N, Matczak S, El Jurdi H, Boddaert N, Abadie V. Chalouhi C, et al. Front Pediatr. 2020 Jan 31;8:8. doi: 10.3389/fped.2020.00008. eCollection 2020. Front Pediatr. 2020. PMID: 32083038 Free PMC article.
Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients.
Thouvenin B, Soupre V, Caillaud MA, Henry-Mestelan C, Chalouhi C, Houssamo B, Chapuis C, Lind K, Royer A, Vegas N, Amiel J, Couly G, Picard A, Vaivre-Douret L, Abadie V. Thouvenin B, et al. Among authors: chalouhi c. Orphanet J Rare Dis. 2021 Oct 20;16(1):442. doi: 10.1186/s13023-021-02072-0. Orphanet J Rare Dis. 2021. PMID: 34670591 Free PMC article.
20 results