Results 21 to 30 of about 2,222,994 (259)

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability [PDF]

, 2014
Overgrowth disorders are a heterogeneous group of conditions characterized by increased growth parameters and other variable clinical features such as intellectual disability and facial dysmorphism1.
Baralle, Diana, Tatton-Brown, Katrina, Silvana del Vecchio Duarte, Katrina Tatton-Brown, Sheila Seal, Jenny Harmer, Dabir, Tabib, Diana Baralle, Seal, Sheila, Ramsay, Emma, Robert van Montfort, Goudie, David, Lise Aksglaede, Van Maldergem, Lionel, Selicorni, Angelo, Yachelevich, Naomi, Ajith Kumar, Pilz, Daniela T, Temple, I. Karen, Blanca Gener, Eleanor O'Brien, Zachariou, Anna, Aksglaede, Lise, Angelo Selicorni, Anna Zachariou, David Goudie, Temple, Karen I., Lionel Van Maldergem, Nazneen Rahman, Elise Ruark, del Vecchio Duarte, Silvana, Kumar, Ajith, Harmer, Jenny, I Karen Temple, Gener, Blanca, van Montfort, Robert, Sandra Hanks, Pilz, Daniela T., Hanks, Sandra, Temple, I Karen, Tessa Homfray, Tabib Dabir, O'Brien, Eleanor, Emma Ramsay, Ruark, Elise, Homfray, Tessa, Daniela T Pilz, Rahman, Nazneen, Naomi Yachelevich   +48 more
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Comprendre l’instrumentation des questions de citoyenneté dans les politiques d’éducation et de jeunesse : une typologie des dispositifs d’action publique

Lien Social et Politiques, 2018
Que ce soit au niveau européen qu’au niveau national, les enjeux relatifs à la citoyenneté des jeunes sont présents dans les débats publics et donnent lieu à la mise en place de dispositifs spécifiques. L’ancienneté et la récurrence de la mise à l’agenda
Valérie Becquet
doaj   +1 more source

Comparative Molecular Genetic Characteristics of Mycobacterium tuberculosis Cultures Isolated in the European Part of the Russian Federation in 1998–2003 and 2016–2021

Туберкулез и болезни лёгких, 2023
The objective: to evaluate changes in detection frequency of Mycobacterium tuberculosis of the main phylogenetic lines with various genetic determinants of resistance to rifampicin, isoniazid and fluoroquinolones in 1998–2003 and 2016–2021.Subjects and ...
S. N. Andreevskaya, E. E. Larionova, E. A. Kiseleva, L. N. Chernousova, A. Е. Ergeshov   +4 more
doaj   +1 more source

Mutations

, 2019
Indel mutations and ...
Xiaofeng Dai (6802325)
core   +1 more source

UvA-DARE (Digital Academic Repository) Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism Link to publication Citation for published version (APA): INACTIVATING MUTATIONS IN THE GENE FOR THYROID OXIDASE 2 ( THOX

, 2020
. Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. The New England journal of medicine, 347(2), 95-102.
Mutations, Congenital
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Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood [PDF]

, 2005
BACKGROUND: Pulmonary arterial hypertension (PAH) is a potentially fatal vasculopathy that can develop at any age. Adult-onset disease has previously been associated with mutations in BMPR2 and ALK-1.
Haworth, SG, Berger, R; id_orcid, Aldred, M A, Morrell, NW, Harrison, RE, Morrell, Nicholas W., Morrell, N W, Mache, CJ, Haworth, S G, Trembath, R C, Mache, Christoph J., Aldred, MA, Trembath, RC, Berger, Rolf, Aldred, Micheala A., Berger, R, Tulloh, R, Harrison, R E, Harrison, Rachel E., Haworth, Sheila G., Mache, C J, Trembath, Richard C., Tulloh, Robert   +22 more
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Le rôle de l’espace dans le diagnostic et le traitement des “malaises sociaux”. Sur quelques implicites de la politique de la ville en France

Forum Sociológico, 2007
En France, l’action urbanistique qui vise certains quartiers de banlieues contient de nombreux présupposés qu’on retrouve dans des catégories, des classifications, des notions voire des slogans contribuant à la construction de la rhétorique d’aménagement
Gérard Baudin
doaj   +1 more source

« Jeunes des quartiers difficiles » en service civique : du ciblage politique d’un public aux usages juvéniles

Lien Social et Politiques, 2013
Le service civique, créé par la Loi du 10 mars 2010, estun dispositif public d’incitation à l’engagement.S’adressant aux jeunes âgés de 16 à 25 ans,il leur propose de réaliser des missionsd’intérêt général pour unedurée de 6 à 12 mois en contrepartie d ...
Valérie Becquet
doaj   +1 more source

Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification

Frontiers in Genetics, 2021
Primary familial brain calcification (PFBC) is a progressive neurological disorder manifesting as bilateral brain calcifications in CT scan with symptoms as parkinsonism, dystonia, ataxia, psychiatric symptoms, etc. Recently, pathogenic variants in MYORG
Yi-Heng Zeng, Bi-Wei Lin, Hui-Zhen Su, Xin-Xin Guo, Yun-Lu Li, Lu-Lu Lai, Wan-Jin Chen, Miao Zhao, Xiang-Ping Yao   +8 more
doaj   +1 more source

Mutations of the ret protooncogene in German multiple endocrine neoplasia families: Relation between genotype and phenotype. [PDF]

, 1996
It has been suggested that not only the position but also the nature of the mutations of the ret protooncogene strongly correlate with the clinical manifestation of the multiple endocrine neoplasm type 2 (MEN 2) syndrome.
Rendl, J., Frank-Raue, K., Höppner, W., Haase, R., Mann, K., Deckart, H. F., Ritter, M. M., Frilling, A., Scholz, G. H., Dralle, H., Kirchner, R., Kotzerke, J., Klempa, J., Hampel, R., Raue, F., Seif, F.   +15 more
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