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298 results

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Page 1
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attié-Bitach T. Karmous-Benailly H, et al. Among authors: martinovic j. Am J Hum Genet. 2005 Mar;76(3):493-504. doi: 10.1086/428679. Epub 2005 Jan 21. Am J Hum Genet. 2005. PMID: 15666242 Free PMC article.
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V. Dagoneau N, et al. Among authors: martinovic j. Am J Hum Genet. 2004 Feb;74(2):298-305. doi: 10.1086/381715. Epub 2004 Jan 21. Am J Hum Genet. 2004. PMID: 14740318 Free PMC article.
Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different.
Viot G, Sonigo P, Simon I, Simon-Bouy B, Chadeyron F, Beldjord C, Tantau J, Martinovic J, Esculpavit C, Brunelle F, Munnich A, Vekemans M, Encha-Razavi F. Viot G, et al. Among authors: martinovic j. Am J Med Genet A. 2004 Apr 15;126A(2):123-8. doi: 10.1002/ajmg.a.20569. Am J Med Genet A. 2004. PMID: 15057976
Oto-onycho-peroneal syndrome: further delineation and first fetal report.
Bessieres-Grattagliano B, Brodaty G, Martinovic J, Fallet-Bianco C, Delezoide AL, Daffos F. Bessieres-Grattagliano B, et al. Among authors: martinovic j. Am J Med Genet A. 2004 Jul 30;128A(3):316-9. doi: 10.1002/ajmg.a.30119. Am J Med Genet A. 2004. PMID: 15216555
Fetal intestinal obstruction induces alteration of enteric nervous system development in human intestinal atresia.
Khen N, Jaubert F, Sauvat F, Fourcade L, Jan D, Martinovic J, Vekemans M, Landais P, Brousse N, Leborgne M, Nihoul-Fékété C, Cerf-Bensussan N, Sarnacki S; Group for the Study of Intestinal Atresia. Khen N, et al. Among authors: martinovic j. Pediatr Res. 2004 Dec;56(6):975-80. doi: 10.1203/01.PDR.0000145294.11800.71. Epub 2004 Oct 20. Pediatr Res. 2004. PMID: 15496609
298 results