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Year Number of Results
1980 1
1990 1
1992 1
1993 1
2001 1
2002 2
2004 1
2008 1
2009 3
2012 1
2013 1
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2015 2
2017 1
2018 3
2019 2
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2025 0

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19 results

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Page 1
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilso… See abstract for full author list ➔ van der Sluijs PJ, et al. Among authors: sanchis calvo a. Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8. Genet Med. 2019. PMID: 30349098 Free PMC article.
[Ciliopathies: a journey through the cilium].
Faus Pérez A, Sanchis Calvo A, Codoñer Franch P, Camarasa Lillo N, Alcover Barrachina I. Faus Pérez A, et al. Among authors: sanchis calvo a. An Pediatr (Barc). 2015 Feb;82(2):104-5. doi: 10.1016/j.anpedi.2014.07.025. Epub 2014 Sep 10. An Pediatr (Barc). 2015. PMID: 25217387 Free article. Spanish. No abstract available.
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
Palencia-Campos A, Martínez-Fernández ML, Altunoglu U, Soto-Bielicka P, Torres A, Marín P, Aller E, Şentürk L, Berköz Ö, Yıldıran M, Kayserili H, Gil-Camarero E, Colli-Lista G, Sanchís-Calvo A, Carretero A; ECEMC Working Group on Polydactyly; Guillén-Navarro E, López-González V, Ballesta-Martínez M, Rosell J, Aglan MS, Temtamy S, Otaify GA, Cuevas-Catalina L, Torres-Saavedra MN, Nevado J, Tenorio J, Lapunzina P, Bermejo-Sánchez E, Ruiz-Pérez VL. Palencia-Campos A, et al. Among authors: sanchis calvo a. Hum Mutat. 2020 Jan;41(1):265-276. doi: 10.1002/humu.23921. Epub 2019 Nov 6. Hum Mutat. 2020. PMID: 31549748
Epsilon gamma delta beta thalassemia: A rare cause of fetal and neonatal anemia.
Muñoz Tormo-Figueres Á, Sanchis Calvo A, Guibert Zafra B. Muñoz Tormo-Figueres Á, et al. Among authors: sanchis calvo a. Med Clin (Barc). 2018 May 11;150(9):368-369. doi: 10.1016/j.medcli.2017.10.011. Epub 2017 Nov 20. Med Clin (Barc). 2018. PMID: 29162270 English, Spanish. No abstract available.
[Hypertrophic cardiomyopathy and neurofibromatosis type 1].
Sanchís Calvo A, Salvador Sanz A, Martí-Bonmatí L, Andrés Ferreres F, Vaquerizo Montilla B. Sanchís Calvo A, et al. An Pediatr (Barc). 2004 Jan;60(1):94-5. doi: 10.1016/s1695-4033(04)78227-2. An Pediatr (Barc). 2004. PMID: 14718142 Free article. Spanish. No abstract available.
[Isolated macrodactyly in a newborn].
Navarro Ruiz A, Sanchis Calvo A, Escobar Araico M, Llorens Salvador R. Navarro Ruiz A, et al. Among authors: sanchis calvo a. An Pediatr (Barc). 2009 Nov;71(5):459-60. doi: 10.1016/j.anpedi.2009.03.015. Epub 2009 May 22. An Pediatr (Barc). 2009. PMID: 19464970 Free article. Spanish. No abstract available.
[Osteoporosis, congenital form].
Espinós Santairene MA, Sanchis Calvo A, Marqués Zaragozá M, Boronat Tormo C, Montserrat Soler C. Espinós Santairene MA, et al. Among authors: sanchis calvo a. An Esp Pediatr. 1980 Feb;13(2):169-72. An Esp Pediatr. 1980. PMID: 7396273 Spanish. No abstract available.
19 results