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Page 1
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Int J Mol Sci. 2021 Jun 15;22(12):6410. doi: 10.3390/ijms22126410.
Int J Mol Sci. 2021.
PMID: 34203883
Free PMC article.
A case of undiagnosed X-linked retinoschisis presenting as unilateral macular demarcation line.
Cozzupoli GM, Amoroso F, Bacquet JL, Miere A, Mouallem-Beziere A, Souied E.
Cozzupoli GM, et al. Among authors: bacquet jl.
Eur J Ophthalmol. 2021 Nov;31(6):NP65-NP70. doi: 10.1177/1120672120943119. Epub 2020 Jul 22.
Eur J Ophthalmol. 2021.
PMID: 32698614
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Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Mechaussier S, Almoallem B, Zeitz C, Van Schil K, Jeddawi L, Van Dorpe J, Dueñas Rey A, Condroyer C, Pelle O, Polak M, Boddaert N, Bahi-Buisson N, Cavallin M, Bacquet JL, Mouallem-Bézière A, Zambrowski O, Sahel JA, Audo I, Kaplan J, Rozet JM, De Baere E, Perrault I.
Mechaussier S, et al. Among authors: bacquet jl.
Am J Hum Genet. 2020 Jun 4;106(6):859-871. doi: 10.1016/j.ajhg.2020.04.018. Epub 2020 May 28.
Am J Hum Genet. 2020.
PMID: 32470375
Free PMC article.
Item in Clipboard
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Mechaussier S, Almoallem B, Zeitz C, Van Schil K, Jeddawi L, Van Dorpe J, Rey AD, Condroyer C, Pelle O, Polak M, Boddaert N, Bahi-Buisson N, Cavallin M, Bacquet JL, Mouallem-Bézière A, Zambrowski O, Sahel JA, Audo I, Kaplan J, Rozet JM, De Baere E, Perrault I.
Mechaussier S, et al. Among authors: bacquet jl.
Am J Hum Genet. 2020 Sep 3;107(3):580. doi: 10.1016/j.ajhg.2020.08.004.
Am J Hum Genet. 2020.
PMID: 32888510
Free PMC article.
No abstract available.
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Neither the patient nor the physician could see anything: Atypical Bing-Neel syndrome.
Bacquet JL, Weiss N, Meyniel C, Algrin C, Choquet S, Leblond V, Galanaud D, LeHoang P, Bodaghi B, Touitou V.
Bacquet JL, et al.
Am J Hematol. 2016 Aug;91(8):858-9. doi: 10.1002/ajh.24411. Epub 2016 Jun 8.
Am J Hematol. 2016.
PMID: 27153503
Free article.
No abstract available.
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