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Year Number of Results
1975 2
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1979 1
1982 1
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1985 1
1989 10
1990 3
1991 1
1992 2
1993 1
1995 1
1996 1
1997 1
1998 1
1999 1
2001 2
2004 2
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2014 4
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80 results

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Page 1
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: puech b. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 Free article.
[Kjellin syndrome].
Ferriby D, Stojkovic T, De Seze J, Puech B, Josien E, Hache JC, Vermersch P. Ferriby D, et al. Among authors: puech b. Rev Neurol (Paris). 2001 Jan;157(1):80-3. Rev Neurol (Paris). 2001. PMID: 11240552 French.
[The surgeon's viewpoint concerning Complex Regional Pain Syndrome 1].
Chrestian P, Giaufré E, Maximin MC, Puech B, Nicaud M, Sarrail R. Chrestian P, et al. Among authors: puech b. Ann Fr Anesth Reanim. 2012 Jan;31(1):e33-8. doi: 10.1016/j.annfar.2011.11.013. Epub 2011 Dec 23. Ann Fr Anesth Reanim. 2012. PMID: 22197041 Review. French.
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.
Khan M, Cornelis SS, Khan MI, Elmelik D, Manders E, Bakker S, Derks R, Neveling K, van de Vorst M, Gilissen C, Meunier I, Defoort S, Puech B, Devos A, Schulz HL, Stöhr H, Grassmann F, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: puech b. Hum Mutat. 2019 Oct;40(10):1749-1759. doi: 10.1002/humu.23787. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31212395
[Congenital achromatopsia: electroretinogram in early diagnosis].
Defoort-Dhellemmes S, Lebrun T, Arndt CF, Bouvet-Drumare I, Guilbert F, Puech B, Hache JC. Defoort-Dhellemmes S, et al. Among authors: puech b. J Fr Ophtalmol. 2004 Feb;27(2):143-8. doi: 10.1016/s0181-5512(04)96108-6. J Fr Ophtalmol. 2004. PMID: 15029041 French.
Long-term follow-up of two patients with oligocone trichromacy.
Smirnov V, Drumare I, Bouacha I, Puech B, Defoort-Dhellemmes S. Smirnov V, et al. Among authors: puech b. Doc Ophthalmol. 2015 Oct;131(2):149-58. doi: 10.1007/s10633-015-9508-8. Epub 2015 Jul 3. Doc Ophthalmol. 2015. PMID: 26138751
80 results