Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Mariken Ruiter"'
Autor:
Laurent Pasquier, Anne V. Snow, David T. Miller, Louise Harewood, Christina Triantafallou, Timothy P.L. Roberts, Leighton B. Hinkley, Zili Chu, Louis Vallée, Alyss Lian Cavanagh, Evica Rajcan-Separovic, Patricia Blanchet, Fiona Miller, Robin P. Goin-Kochel, Beau Reilly, Bettina Cerban, Vanessa Siffredi, Bridget A. Fernandez, Roger Vaughan, Brianna M. Paul, Fanny Morice-Picard, Elisabeth Flori, Dominique Campion, Gérard Didelot, Anne Philippe, Christa Lese Martin, Srikantan S. Nagarajan, Joris Andrieux, Jacques Puechberty, Marie Pierre Cordier, Jill V. Hunter, Ellen van Binsbergen, Catherine Vincent-Delorme, Vivek Swarnakar, Jean Marie Cuisset, Monica Proud, Patrick Callier, Bert B.A. de Vries, Jeffrey I. Berman, Sarah J. Spence, Alexandra Bowe, Wendy K. Chung, Katy Ankenman, Katherine Hines, Sarah E. Gobuty, Philippe Jonveaux, Lisa Blaskey, Alice Goldenberg, Sylvie Jaillard, Alessandra Renieri, Anne M. Maillard, Tracy Luks, Lee Anne Green Snyder, Elliott H. Sherr, Sarah Y. Khan, Fabienne Prieur, Simon A. Zwolinski, Andres Metspalu, Ghislaine Plessis, Jean Chiesa, Rita J. Jeremy, Valérie Malan, Michèle Mathieu-Dramard, Loyse Hippolyte, Bethanny Smith-Packard, Andrea M. Paal, Bénédicte Duban Bedu, Claudine Rieubland, Jordan Burko, Sylvie Joriot, Philippe Conus, Dominique Bonneau, Benoit Arveiler, Nicole de Leeuw, Allison G. Dempsey, John E. Spiro, Julia Wenegrat, Bertrand Isidor, Cédric Le Caignec, Kyle J. Steinman, Bruno Delobel, Ashlie Llorens, Jacques S. Beckmann, Kelly Johnson, Sean Ackerman, Polina Bukshpun, Silvia Garza, Alexandre Reymond, Damien Sanlaville, Ellen Hanson, Martine Doco-Fenzy, Jacques Thonney, Mari Wakahiro, Juliane Hoyer, Jacqueline Vigneron, Katrin Õunap, Arthur L. Beaudet, Mandy Barker, Nicole Visyak, Sonia Bouquillon, W. Andrew Faucett, Raphael Bernier, Sudha Kilaru Kessler, Audrey Lynn Bibb, Dennis Shaw, R. Frank Kooy, Suzanne M E Lewis, Anna L. Laakman, Nicholas J. Pojman, Hubert Journel, Laura Bernardini, Arianne Stevens, Julia P. Owen, Rebecca Mc Nally Keehn, Stéphanie Selmoni, Sébastien Lebon, Aurélien Macé, Bruno Leheup, Saba Qasmieh, Zoltán Kutalik, Anita Rauch, Yiping Shen, Elysa J. Marco, Nathalie Van der Aa, Carina Ferrari, Noam D. Beckmann, Delphine Héron, Jennifer Tjernage, Benjamin Aaronson, Albert David, Marie Pierre Lemaitre, Muriel Holder, Eve Õiglane-Shlik, Anneke T. Vulto-van Silfhout, Flore Zufferey, Constance Atwell, Marta Benedetti, Ellen Grant, Jenna Elgin, Patricia Z. Page, Caroline Rooryck, Randy L. Buckner, Qixuan Chen, Laurence Faivre, Sébastien Jacquemont, Kerri P. Nowell, Florence Fellmann, Disciglio Vittoria, Katharina Magdalena Rötzer, Hana Lee, Alastair J. Martin, Marion Greenup, David H. Ledbetter, Katrin Männik, Morgan W. Lasala, Jennifer Gerdts, Hanalore Alupay, Florence Petit, Elizabeth Aylward, Gerald D. Fischbach, Mafalda Mucciolo, Maxwell Cheong, Gabriela Marzano, Frédérique Béna, Danielle Martinet, Timothy J. Moss, Odile Boute, Jennifer Olson, Marco Belfiore, Christina Fagerberg, Corby L. Dale, Robert M. Witwicki, Yolanda L. Evans, Melissa B. Ramocki, Marie-Claude Addor, Christèle Dubourg, Mariken Ruiter, Tuhin K. Sinha, Mieke M. van Haelst, Alan Packer, Kathleen E. McGovern, Christie M. Brewton, Stephen M. Kanne, Richard I. Fisher, Tracey Ward, Sophie Dupuis-Girod, Pratik Mukherjee
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668
Journal of medical genetics, 49(10), 660-668. BMJ Publishing Group
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of Medical Genetics, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of medical genetics
JOURNAL OF MEDICAL GENETICS
Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668
Journal of medical genetics, 49(10), 660-668. BMJ Publishing Group
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of Medical Genetics, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of medical genetics
JOURNAL OF MEDICAL GENETICS
Background The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. Objective To define the medical, neuropsychological, and beha
Autor:
Sonja A. de Munnik, Claudia A. L. Ruivenkamp, Dorit Lev, Birgit Sikkema-Raddatz, Willie Reardon, Conny M. A. van Ravenswaaij-Arts, Marielle E M Swinkels, Mariken Ruiter, Hermine E. Veenstra-Knol, Ayala Frumkin, Corien C. Verschuuren-Bemelmans, Trijnie Dijkhuizen, Nicole de Leeuw, Christina Evers, Anthonie J. van Essen, Patrick Rump, Wilma Oostdijk
Publikováno v:
American Journal of Medical Genetics Part A, 164A(11), 2707-2723
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 164(11), 2707-2723. Wiley
American Journal of Medical Genetics. Part A, 164A, 11, pp. 2707-23
American Journal of Medical Genetics. Part A, 164A, 2707-23
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 164(11), 2707-2723. Wiley
American Journal of Medical Genetics. Part A, 164A, 11, pp. 2707-23
American Journal of Medical Genetics. Part A, 164A, 2707-23
22q11.2 deletion syndrome is one of the most common microdeletion syndromes. Most patients have a deletion resulting from a recombination of low copy repeat blocks LCR22-A and LCR22-D. Loss of the TBX1 gene is considered the most important cause of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7acccd3de37a1cc28036415628e3659
https://doi.org/10.1002/ajmg.a.36711
https://doi.org/10.1002/ajmg.a.36711
Publikováno v:
Clinical Dysmorphology, 19, 4, pp. 195-7
Clinical Dysmorphology, 19, 195-7
Clinical Dysmorphology, 19, 195-7
Contains fulltext : 89543.pdf (Publisher’s version ) (Closed access) The X-linked Opitz G/BBB syndrome (OS) is a congenital malformation disorder characterized by hypertelorism, swallowing difficulties, hypospadias, and additional midline malformat
Autor:
Lillian Eshuis, Erika Viragh, Annette Schenck, Licio Collavin, Zoltan Asztalos, Bregje W.M. van Bon, Richard J. Rodenburg, Jan A.M. Smeitink, Bert B.A. de Vries, Leo G.J. Nijtmans, Patrik Verstreken, Melissa Vos, Martijn A. Huynen, Nicole de Leeuw, Mariken Ruiter, Merel A.W. Oortveld, Falko Hofmann, Michaela Fenckova, Judith A. Besseling, Lenke Asztalos, Bonnie Nijhof, Anna Castells-Nobau, Jamie M. Kramer
Publikováno v:
Human Molecular Genetics, 22, 15, pp. 3138-3151
Human Molecular Genetics
Human Molecular Genetics; Vol 22
Human Molecular Genetics, 22, 3138-3151
Human Molecular Genetics
Human Molecular Genetics; Vol 22
Human Molecular Genetics, 22, 3138-3151
It is estimated that the human mitochondrial proteome consists of 1000-1500 distinct proteins. The majority of these support the various biochemical pathways that are active in these organelles. Individuals with an oxidative phosphorylation disorder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1408cbe94dde58350101a8488a9639c
http://hdl.handle.net/11368/2673331
http://hdl.handle.net/11368/2673331
Autor:
Charles E. Schwartz, Claude Moraine, Michael R. Stratton, Darien Lugtenberg, Ben C.J. Hamel, Jozef Gecz, Astrid R. Oudakker, Hans-Hilger Ropers, Reinhard Ullmann, Ralph Pfundt, Annabel Whibley, Jeroen Knijnenburg, Susanne Kjaergaard, Janneke H M Schuurs-Hoeijmakers, Luiz Zangrande-Vieira, Carla Rosenberg, Jayne Y. Hehir-Kwa, Mariken Ruiter, Fernanda Sarquis Jehee, Joris A. Veltman, Jamel Chelly, Arjan P.M. de Brouwer, Hans van Bokhoven, Guido Froyen, Maria Kirchhoff, F. Lucy Raymond, Tjitske Kleefstra, Angela Maria Vianna-Morgante, Sarina G. Kant, Terry Vrijenhoek
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
American Journal of Medical Genetics Part A, 152A(3), 638-645
American Journal of Medical Genetics. Part A, 152A, 3, pp. 638-45
American Journal of Medical Genetics. Part A, 152A, 638-45
Universidade de São Paulo (USP)
instacron:USP
American Journal of Medical Genetics Part A, 152A(3), 638-645
American Journal of Medical Genetics. Part A, 152A, 3, pp. 638-45
American Journal of Medical Genetics. Part A, 152A, 638-45
Contains fulltext : 89448.pdf (Publisher’s version ) (Closed access) ZNF630 is a member of the primate-specific Xp11 zinc finger gene cluster that consists of six closely related genes, of which ZNF41, ZNF81, and ZNF674 have been shown to be involv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6306f43f240ddd8886676019e94c6bc9
Autor:
Richard J. Rodenburg, Christa van den Elzen, Baziel G.M. van Engelen, Jan A.M. Smeitink, Marloes H. Siers, E Mariken Ruiter, Frans A. Hol
Publikováno v:
European Journal of Human Genetics, 15, 2, pp. 155-61
European Journal of Human Genetics, 15, 155-61
European Journal of Human Genetics, 15, 155-61
Contains fulltext : 52434.pdf (Publisher’s version ) (Closed access) The m.13513G > A transition in the mitochondrial gene encoding the ND5 subunit of respiratory chain complex I, can cause mitochondrial encephalomyopathy with lactic acidosis and s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1c6d25770f9f02bb8294135c0ae1a7d
https://hdl.handle.net/2066/52434
https://hdl.handle.net/2066/52434
Autor:
Bert B.A. de Vries, Nicole de Leeuw, Erik A. Sistermans, Harry M J Klinkers, Joris A. Veltman, David A. Koolen, Mariken Ruiter, Rolph Pfundt
Publikováno v:
Clinical Dysmorphology, 15, 3, pp. 133-7
ResearcherID
Ruiter, M, Koolen, D A, Pfundt, R, De Leeuw, N, Klinkers, H M J, Sistermans, E A, Veltman, J A & De Vries, B B A 2006, ' A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation ', Clinical Dysmorphology, vol. 15, no. 3, pp. 133-137 . https://doi.org/10.1097/01.mcd.0000220605.94413.bb
Clinical Dysmorphology, 15(3), 133-137. Lippincott Williams and Wilkins
Clinical Dysmorphology, 15, 133-7
ResearcherID
Ruiter, M, Koolen, D A, Pfundt, R, De Leeuw, N, Klinkers, H M J, Sistermans, E A, Veltman, J A & De Vries, B B A 2006, ' A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation ', Clinical Dysmorphology, vol. 15, no. 3, pp. 133-137 . https://doi.org/10.1097/01.mcd.0000220605.94413.bb
Clinical Dysmorphology, 15(3), 133-137. Lippincott Williams and Wilkins
Clinical Dysmorphology, 15, 133-7
Contains fulltext : 49646.pdf (Publisher’s version ) (Closed access) We report on a female patient with severe mental retardation, dysmorphic features, deafness, spasticity, and behavioural problems in whom a 2.3 Mb duplication of 12q24.21q24.23 wa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c308684e7b8dd998c50a6323e53342e9
https://hdl.handle.net/2066/49646
https://hdl.handle.net/2066/49646
Publikováno v:
Clinical dysmorphology. 13(2)
A terminal transverse limb reduction defect is a relatively common congenital malformation that most often occurs unilaterally and in isolation. A mildly mentally disabled boy is described with an absent left hand, a congenital cardiac defect, short
Autor:
Frans C. C. Riemslag, Daniëlle G.M. Bosch, F. Nienke Boonstra, Rob W.J. Collin, Mariken Ruiter, Anna M. Siemiatkowska, Anneke I. den Hollander, Frans P.M. Cremers, Janneke H M Schuurs-Hoeijmakers, Bert B.A. de Vries
Publikováno v:
Jama Ophthalmology, 132, 8, pp. 1002-4
Jama Ophthalmology, 132, 1002-4
Jama Ophthalmology, 132, 1002-4
Item does not contain fulltext IMPORTANCE: The NMNAT1 gene was recently found to be mutated in a subset of patients with Leber congenital amaurosis and macular atrophy. The most prevalent NMNAT1 variant was p.Glu257Lys, which was observed in 38 of 10
Publikováno v:
American Journal of Medical Genetics Part A. :344-344