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[Mucopolysaccharidosis: diagnosis and therapy].
Rev Med Interne. 2007 Dec;28 Suppl 4:S294-5. doi: 10.1016/j.revmed.2007.09.018. Epub 2007 Oct 8.
Rev Med Interne. 2007.
PMID: 17961862
French.
No abstract available.
Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.
Mouden C, de Tayrac M, Dubourg C, Rose S, Carré W, Hamdi-Rozé H, Babron MC, Akloul L, Héron-Longe B, Odent S, Dupé V, Giet R, David V.
Mouden C, et al. Among authors: heron longe b.
PLoS One. 2015 Feb 6;10(2):e0117418. doi: 10.1371/journal.pone.0117418. eCollection 2015.
PLoS One. 2015.
PMID: 25658757
Free PMC article.
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Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.
Micol R, Ben Slama L, Suarez F, Le Mignot L, Beauté J, Mahlaoui N, Dubois d'Enghien C, Laugé A, Hall J, Couturier J, Vallée L, Delobel B, Rivier F, Nguyen K, Billette de Villemeur T, Stephan JL, Bordigoni P, Bertrand Y, Aladjidi N, Pedespan JM, Thomas C, Pellier I, Koenig M, Hermine O, Picard C, Moshous D, Neven B, Lanternier F, Blanche S, Tardieu M, Debré M, Fischer A, Stoppa-Lyonnet D; CEREDIH Network Investigators.
Micol R, et al.
J Allergy Clin Immunol. 2011 Aug;128(2):382-9.e1. doi: 10.1016/j.jaci.2011.03.052. Epub 2011 Jun 12.
J Allergy Clin Immunol. 2011.
PMID: 21665257
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New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.
Larcher L, Buratti J, Héron-Longe B, Benzacken B, Pipiras E, Keren B, Delahaye-Duriez A.
Larcher L, et al. Among authors: heron longe b.
Clin Genet. 2020 Apr;97(4):639-643. doi: 10.1111/cge.13688. Epub 2020 Jan 7.
Clin Genet. 2020.
PMID: 31845318
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Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG.
Lamb AN, et al. Among authors: heron longe b.
Hum Mutat. 2012 Apr;33(4):728-40. doi: 10.1002/humu.22037.
Hum Mutat. 2012.
PMID: 22290657
Free PMC article.
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Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramirez-Camacho A, Ulate-Campos A, Campistol J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A; Italian IBAHC Consortium; French AHC Consortium; International AHC Consortium.
Panagiotakaki E, et al.
Orphanet J Rare Dis. 2015 Sep 26;10:123. doi: 10.1186/s13023-015-0335-5.
Orphanet J Rare Dis. 2015.
PMID: 26410222
Free PMC article.
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