Volltext-Artikel, E-Books und Literaturhinweise aus dem EBSCO Discovery Service

von Valente F. M. ; Sparago A. ; Freschi A. ; et al.

Schlagworte: Beckwith–Wiedemann syndrome; DNA methylation; genomic imprinting; imprinting disorder; long QT syndrome; Adolescent; Adult; Animal; Beckwith-Wiedemann Syndrome; Child; Preschool; Chromosomes; Human; Pair 11; Female; Infant; Intron; KCNQ1 Potassium Channel; Male; Maternal Inheritance; Mice; Pedigree; Young Adult

• View full text via BASE

von Hu, H. ; Haas, S. A. ; Chelly, J. ; et al.

Hu, H, Haas, S A, Chelly, J, Van Esch, H, Raynaud, M, de Brouwer, A P M, Weinert, S, Froyen, G, Frints, S G M, Laumonnier, F, Zemojtel, T, Love, M I, Richard, H, Emde, A-K, Bienek, M, Jensen, C, Hambrock, M, Fischer, U, Langnick, C, Feldkamp, M, Wissink-Lindhout, W, Lebrun, N, Castelnau, L, Rucci, J, Montjean, R, Dorseuil, O, Billuart, P, Stuhlmann, T, Shaw, M, Corbett, M A, Gardner, A, Willis-Owen, S, Tan, C, Friend, K L, Belet, S, van Roozendaal, K E P, Jimenez-Pocquet, M, Moizard, M-P, Ronce, N, Sun, R, O'Keeffe, S, Chenna, R, Van Boemmel, ....

• View full text via BASE

von Ito, H. ; Shiwaku, H. ; Yoshida, C. ; et al.

Ito, H, Shiwaku, H, Yoshida, C, Homma, H, Luo, H, Chen, X, Fujita, K, Musante, L, Fischer, U, Frints, S G M, Romano, C, Ikeuchi, Y, Shimamura, T, Imoto, S, Miyano, S, Muramatsu, S, Kawauchi, T, Hoshino, M, Sudol, M, Arumughan, A, Wanker, E E, Rich, T, Schwartz, C, Matsuzaki, F, Bonni, A, Kalscheuer, V M & Okazawa, H 2015, 'In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells', Molecular Psychiatry, vol. 20, no. 4, pp. 459-471. https://doi.org/10.1038/mp.2014.69

• View full text via BASE

von Mersy, E. ; Smits, L. J. M. ; van Winden, L. A. A. P. ; et al.

Mersy, E, Smits, L J M, van Winden, L A A P, de Die-Smulders, C E M, Paulussen, A D C, Macville, M V E, Coumans, A B C & Frints, S G M 2013, 'Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012', Human Reproduction Update, vol. 19, no. 4, pp. 318-329. https://doi.org/10.1093/humupd/dmt001

Schlagworte: noninvasive prenatal testing; trisomy 21; cell-free fetal DNA; RNA; QUADAS-2

• View full text via BASE

von Longo, I ; Frints, S G M ; Fryns, J-P ; et al.

Schlagworte: Original articles

• View full text via BASE

von Frints, S. G. M. ; de Die-Smulders, C. E. M. ; Hasaart, T. H. M.

Prenatal Diagnosis ; volume 18, issue 8, page 867-868 ; ISSN 0197-3851 1097-0223

• View full text via BASE

von van de Kamp, J. M. ; Betsalel, O. T. ; Mercimek-Mahmutoglu, S. ; et al.

van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Gruenewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D'Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, von der Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, M C, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, ....

• Zum Volltext (via ReDI)

von UCL - SSS/IONS/NEUR - Clinical Neuroscience ; UCL - SSS/IREC - Institut de recherche expérimentale et clinique ; UCL - (SLuc) Centre de génétique médicale UCL ; et al.

Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics, Vol. 50, no. 7, p. 463-472 (2013)

Schlagworte: Adult; Mental Retardation, X-Linked; Nerve Tissue Proteins; Phenotype; Plasma Membrane Neurotransmitter Transport Proteins; Retrospective Studies; Brain Diseases, Metabolic, Inborn; Child; Creatine; Genes, X-Linked; Genetic Testing; Genotype; Humans; Male; info:eu-repo/semantics/article

• Zum Volltext über OAIster

von de Jong, A. ; Dondorp, W. J. ; Frints, S. G. M. ; et al.

Human Reproduction ; volume 26, issue 11, page 2915-2917 ; ISSN 0268-1161 1460-2350

• Volltextverfügbarkeit prüfen (via ReDI)

von Genetica Klinische Genetica ; Circulatory Health ; van der Smagt, J J ; et al.

• Zum Volltext über OAIster

von Verhagen, J. M. A. ; Schrander-Stumpel, C. T. R. M. ; Krapels, P. C. ; et al.

Verhagen, J M A, Schrander-Stumpel, C T R M, Krapels, P C, de Die-Smulders, C E M, van Lint, F H M, Willekes, C, Weber, J W, Gavilanes, A W D, Macville, M V E, Stegmann, A P A, Engelen, J J M, Bakker, J, Vos, Y J & Frints, S G M 2011, 'Congenital hydrocephalus in clinical practice: A genetic diagnostic approach', European Journal of Medical Genetics, vol. 54, no. 6, pp. E542-E547. https://doi.org/10.1016/j.ejmg.2011.06.005

Schlagworte: Congenital; Etiology; Genetic; Hydrocephalus; L1CAM

• Zum Volltext (via ReDI)

• Zur Referenz in Web of Science

• Zur Referenz in Web of Science