Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1982 2
1984 1
1985 2
1986 1
1987 4
1988 2
1989 1
1990 2
1991 2
1992 1
1994 2
1995 1
1997 3
1998 3
1999 4
2000 3
2001 2
2002 4
2003 4
2004 2
2005 4
2006 3
2007 5
2008 3
2009 4
2010 8
2011 5
2012 4
2013 12
2014 9
2015 7
2016 6
2017 11
2018 9
2019 8
2020 7
2021 4
2022 4
2023 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

140 results

Results by year

Filters applied: . Clear all
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: jouk ps. 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.
PIGN encephalopathy: Characterizing the epileptology.
Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG. Bayat A, et al. Among authors: jouk ps. Epilepsia. 2022 Apr;63(4):974-991. doi: 10.1111/epi.17173. Epub 2022 Feb 18. Epilepsia. 2022. PMID: 35179230
Carbimazole-related gastroschisis.
Guignon AM, Mallaret MP, Jouk PS. Guignon AM, et al. Among authors: jouk ps. Ann Pharmacother. 2003 Jun;37(6):829-31. doi: 10.1345/aph.1C368. Ann Pharmacother. 2003. PMID: 12773072
Complete agenesis of major salivary glands.
Berta E, Bettega G, Jouk PS, Billy G, Nugues F, Morand B. Berta E, et al. Among authors: jouk ps. Int J Pediatr Otorhinolaryngol. 2013 Oct;77(10):1782-5. doi: 10.1016/j.ijporl.2013.07.025. Epub 2013 Aug 28. Int J Pediatr Otorhinolaryngol. 2013. PMID: 23993206 Review.
[Kell alloimmunization in pregnancy].
Gariod S, Brossard Y, Poissonnier MH, Vuilliez B, Deutsch V, Jouk PS, Pons JC. Gariod S, et al. Among authors: jouk ps. J Gynecol Obstet Biol Reprod (Paris). 2004 Nov;33(7):637-48. doi: 10.1016/s0368-2315(04)96605-7. J Gynecol Obstet Biol Reprod (Paris). 2004. PMID: 15550883 Free article. Review. French.
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.
Donnio LM, Bidon B, Hashimoto S, May M, Epanchintsev A, Ryan C, Allen W, Hackett A, Gecz J, Skinner C, Stevenson RE, de Brouwer APM, Coutton C, Francannet C, Jouk PS, Schwartz CE, Egly JM. Donnio LM, et al. Among authors: jouk ps. Hum Mol Genet. 2017 Jun 1;26(11):2062-2075. doi: 10.1093/hmg/ddx099. Hum Mol Genet. 2017. PMID: 28369444
140 results