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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: khung s. 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.
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume J, Gérard M, Delezoide AL, Khung S, Patrier S, Cordier MP, Bouvier R, Martinovic J, Gubler MC, Boddaert N, Munnich A, Encha-Razavi F, Valente EM, Saad A, Saunier S, Vekemans M, Attié-Bitach T. Mougou-Zerelli S, et al. Among authors: khung s. Hum Mutat. 2009 Nov;30(11):1574-82. doi: 10.1002/humu.21116. Hum Mutat. 2009. PMID: 19777577 Free PMC article.
Biometry of face and brain in fetuses with trisomy 21.
Guihard-Costa AM, Khung S, Delbecque K, Ménez F, Delezoide AL. Guihard-Costa AM, et al. Among authors: khung s. Pediatr Res. 2006 Jan;59(1):33-8. doi: 10.1203/01.pdr.0000190580.88391.9a. Epub 2005 Dec 2. Pediatr Res. 2006. PMID: 16326987
Hippocampal Radial Glial Subtypes and Their Neurogenic Potential in Human Fetuses and Healthy and Alzheimer's Disease Adults.
Cipriani S, Ferrer I, Aronica E, Kovacs GG, Verney C, Nardelli J, Khung S, Delezoide AL, Milenkovic I, Rasika S, Manivet P, Benifla JL, Deriot N, Gressens P, Adle-Biassette H. Cipriani S, et al. Among authors: khung s. Cereb Cortex. 2018 Jul 1;28(7):2458-2478. doi: 10.1093/cercor/bhy096. Cereb Cortex. 2018. PMID: 29722804 Free article.
Neuropathology findings in KCNQ2 neonatal epileptic encephalopathy.
Legros L, Adle-Biassette H, Dozières-Puyravel B, Khung S, Elmaleh-Bergès M, Lesca G, Delanoë C, Biran V, Auvin S. Legros L, et al. Among authors: khung s. Seizure. 2022 Jul;99:36-39. doi: 10.1016/j.seizure.2022.05.008. Epub 2022 May 10. Seizure. 2022. PMID: 35584591 Free article.
A long-term competent chimeric immune system in a dizygotic dichorionic twin.
Biran V, Bornes M, Aboura A, Masmoudi S, Drunat S, Baumann C, Osimani S, Dalle JH, Sterkers G, Verloes A, Farnoux C, Maury L, Schmitz T, Khung S, Baud O. Biran V, et al. Among authors: khung s. Pediatrics. 2011 Aug;128(2):e458-63. doi: 10.1542/peds.2010-3557. Epub 2011 Jul 11. Pediatrics. 2011. PMID: 21746725
21 results