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Page 1
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, Melki J. Laquerriere A, et al. Among authors: melki j. J Med Genet. 2022 Jun;59(6):559-567. doi: 10.1136/jmedgenet-2020-107595. Epub 2021 Apr 5. J Med Genet. 2022. PMID: 33820833 Free PMC article.
Parental origin of the X chromosomes in Rett syndrome.
Benedetti L, Munnich A, Melki J, Tardieu M, Turleau C. Benedetti L, et al. Among authors: melki j. Am J Med Genet. 1992 Sep 1;44(1):121-3. doi: 10.1002/ajmg.1320440131. Am J Med Genet. 1992. PMID: 1355631 No abstract available.
A PstI polymorphism at the D5S39 locus.
Abdelhak S, Melki J, Bachelot MF, Burlet P, Sheth P, Frézal J, Munnich A. Abdelhak S, et al. Among authors: melki j. Nucleic Acids Res. 1990 Sep 25;18(18):5580. doi: 10.1093/nar/18.18.5580-a. Nucleic Acids Res. 1990. PMID: 1977124 Free PMC article.
Trinucleotide repeat polymorphism at the D5S556 locus.
Burlet P, Abdelhak S, Pascal F, Clermont O, Paul B, Munnich A, Melki J. Burlet P, et al. Among authors: melki j. Hum Mol Genet. 1993 Aug;2(8):1328. doi: 10.1093/hmg/2.8.1328. Hum Mol Genet. 1993. PMID: 8401523 No abstract available.
252 results