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Prenatal diagnosis of colobomatous microphthalmos.
J Pediatr Ophthalmol Strabismus. 2015 Apr 30;52 Online:e22-5. doi: 10.3928/01913913-20150421-12.
J Pediatr Ophthalmol Strabismus. 2015.
PMID: 25942066
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J.
Böhm J, et al. Among authors: johal sc.
Hum Mutat. 2012 Jun;33(6):949-59. doi: 10.1002/humu.22067. Epub 2012 Apr 4.
Hum Mutat. 2012.
PMID: 22396310
Free PMC article.
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Family history is a poor screen for prothrombotic genes in children with stroke.
Johal SC, Garg BP, Heiny ME, Williams LS, Saha C, Walsh LE, Golomb MR.
Johal SC, et al.
J Pediatr. 2006 Jan;148(1):68-71. doi: 10.1016/j.jpeds.2005.08.032.
J Pediatr. 2006.
PMID: 16423600
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