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1984 1
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1999 2
2001 1
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57 results

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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: amram d. 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.
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Jedraszak G, Jobic F, Receveur A, Bilan F, Gilbert-Dussardier B, Tiffany B, Missirian C, Willems M, Odent S, Lucas J, Dubourg C, Schaefer E, Scheidecker S, Lespinasse J, Goldenberg A, Guerrot AM, Joly-Helas G, Chambon P, Le Caignec C, David A, Coutton C, Satre V, Vieville G, Amblard F, Harbuz R, Sanlaville D, Till M, Vincent-Delorme C, Colson C, Andrieux J, Naudion S, Toutain J, Rooryck C, de Fréminville B, Prieur F, Daire VC, Amram D, Kleinfinger P, Raabe-Meyer G, Courage C, Lemke J, Stefanou EG, Loretta T, Emmanouil M, Tzeli SK, Sodowska H, Anderson J, Nandini A, Copin H, Garçon L, Liehr T, Morin G. Jedraszak G, et al. Among authors: amram d. Am J Med Genet A. 2024 Apr;194(4):e63476. doi: 10.1002/ajmg.a.63476. Epub 2023 Nov 16. Am J Med Genet A. 2024. PMID: 37974505
Reweighting simulated events using machine-learning techniques in the CMS experiment.
Hayrapetyan A, Tumasyan A, Adam W, Andrejkovic JW, Benato L, Bergauer T, Chatterjee S, Damanakis K, Dragicevic M, Hussain PS, Jeitler M, Krammer N, Li A, Liko D, Mikulec I, Schieck J, Schöfbeck R, Schwarz D, Sonawane M, Waltenberger W, Wulz CE, Janssen T, Van Laer T, Van Mechelen P, Breugelmans N, D'Hondt J, Dansana S, De Moor A, Delcourt M, Heyen F, Lowette S, Makarenko I, Müller D, Tavernier S, Tytgat M, Van Onsem GP, Van Putte S, Vannerom D, Bilin B, Clerbaux B, Das AK, De Bruyn I, De Lentdecker G, Evard H, Favart L, Gianneios P, Jaramillo J, Khalilzadeh A, Khan FA, Lee K, Malara A, Paredes S, Shahzad MA, Thomas L, Vanden Bemden M, Vander Velde C, Vanlaer P, De Coen M, Dobur D, Gokbulut G, Hong Y, Knolle J, Lambrecht L, Marckx D, Mota Amarilo K, Skovpen K, Van Den Bossche N, van der Linden J, Wezenbeek L, Benecke A, Bethani A, Bruno G, Caputo C, De Favereau De Jeneret J, Delaere C, Donertas IS, Giammanco A, Guzel AO, Jain S, Lemaitre V, Lidrych J, Mastrapasqua P, Tran TT, Turkcapar S, Alves GA, Coelho E, Correia Silva G, Hensel C, Menezes De Oliveira T, Mora Herrera C, Rebello Teles P, Soeiro M, Tonelli Manganote EJ, Vilela Pereira A, Aldá Júnior WL, Barroso Ferreira Filho M, B… See abstract for full author list ➔ Hayrapetyan A, et al. Among authors: amram d. Eur Phys J C Part Fields. 2025;85(5):495. doi: 10.1140/epjc/s10052-025-14097-x. Epub 2025 May 6. Eur Phys J C Part Fields. 2025. PMID: 40342237 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
[Prenatal diagnosis of chylothorax].
Dendale J, Comet P, Amram D, Lesbros D. Dendale J, et al. Among authors: amram d. Arch Pediatr. 1999 Aug;6(8):867-71. doi: 10.1016/s0929-693x(00)88482-1. Arch Pediatr. 1999. PMID: 10472400 Review. French.
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
Boutaud L, Ruzzenente B, Tessier A, Anselem O, Pannier E, Grotto S, Talhi N, Amram D, Willems M, Wells C, Blanchet P, Musizzano Y, Jauny C, Nitschke P, Bole-Feysot C, Bessières B, Salhi H, Achaiaa A, Metodiev MD, Razavi F, Rötig A, Loeuilllet L, Attié-Bitach T. Boutaud L, et al. Among authors: amram d. Brain. 2023 May 2;146(5):1804-1811. doi: 10.1093/brain/awac417. Brain. 2023. PMID: 36349561
[Cleidocranial dysostosis].
Amram S, Amram D, Branger MF, Lopez FM, Lesbros D. Amram S, et al. Among authors: amram d. J Radiol. 1995 May;76(5):301-3. J Radiol. 1995. PMID: 7783048 French. No abstract available.
Variants in CUL4B are associated with cerebral malformations.
Vulto-van Silfhout AT, Nakagawa T, Bahi-Buisson N, Haas SA, Hu H, Bienek M, Vissers LE, Gilissen C, Tzschach A, Busche A, Müsebeck J, Rump P, Mathijssen IB, Avela K, Somer M, Doagu F, Philips AK, Rauch A, Baumer A, Voesenek K, Poirier K, Vigneron J, Amram D, Odent S, Nawara M, Obersztyn E, Lenart J, Charzewska A, Lebrun N, Fischer U, Nillesen WM, Yntema HG, Järvelä I, Ropers HH, de Vries BB, Brunner HG, van Bokhoven H, Raymond FL, Willemsen MA, Chelly J, Xiong Y, Barkovich AJ, Kalscheuer VM, Kleefstra T, de Brouwer AP. Vulto-van Silfhout AT, et al. Among authors: amram d. Hum Mutat. 2015 Jan;36(1):106-17. doi: 10.1002/humu.22718. Hum Mutat. 2015. PMID: 25385192 Free PMC article.
57 results