Bilaketaren emaitzak - Kant, Sarina G
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Assessment of the Clinical Benefit of Imaging in Children With Unilateral Sensorineural Hearing Loss: A Systematic Review and Meta-analysis nork Ropers, Fabienne G., Pham, Eveline N. B., Kant, Sarina G., Rotteveel, Liselotte J. C., Rings, Edmond H. H. M., Verbist, Berit M., Dekkers, Olaf M.
Argitaratua 2019Text -
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Successful Growth Hormone Therapy in Cornelia de Lange Syndrome nork de Graaf, Michael, Kant, Sarina G, Wit, Jan Maarten, Redeker, Egbert Johan Willem, Santen, Gijs Willem Eduard, Verkerk, Annemieke Johanna Maria Henriëtta, Uitterlinden, André Gerardus, Losekoot, Monique, Oostdijk, Wilma
Argitaratua 2017Text -
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Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development nork Cisse, Babacar, Caton, Michele L., Lehner, Manfred, Maeda, Takahiro, Scheu, Stefanie, Locksley, Richard, Holmberg, Dan, Zweier, Christiane, den Hollander, Nicolette S., Kant, Sarina G., Holter, Wolfgang, Rauch, Anita, Zhuang, Yuan, Reizis, Boris
Argitaratua 2008Text -
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A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first nork Gijsbers, Antoinet CJ, Lew, Janet YK, Bosch, Cathy AJ, Schuurs-Hoeijmakers, Janneke HM, van Haeringen, Arie, den Hollander, Nicolette S, Kant, Sarina G, Bijlsma, Emilia K, Breuning, Martijn H, Bakker, Egbert, Ruivenkamp, Claudia AL
Argitaratua 2009Text -
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Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome nork Gilissen, Christian, Arts, Heleen H., Hoischen, Alexander, Spruijt, Liesbeth, Mans, Dorus A., Arts, Peer, van Lier, Bart, Steehouwer, Marloes, van Reeuwijk, Jeroen, Kant, Sarina G., Roepman, Ronald, Knoers, Nine V.A.M., Veltman, Joris A., Brunner, Han G.
Argitaratua 2010Text -
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Phenotypic characterization of patients with deletions in the 3’-flanking SHOX region nork Kant, Sarina G., Broekman, Sander J., de Wit, Caroline C., Bos, Marloes, Scheltinga, Sitha A., Bakker, Egbert, Oostdijk, Wilma, van der Kamp, Hetty J., van Zwet, Erik W., van der Hout, Annemieke H., Wit, Jan M., Losekoot, Monique
Argitaratua 2013Text -
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Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11 nork Wentzel, Christian, Rajcan-Separovic, Evica, Ruivenkamp, Claudia A L, Chantot-Bastaraud, Sandra, Metay, Corinne, Andrieux, Joris, Annerén, Göran, Gijsbers, Antoinet C J, Druart, Luc, Hyon, Capucine, Portnoi, Marie-France, Stattin, Eva-Lena, Vincent-Delorme, Catherine, Kant, Sarina G, Steinraths, Michelle, Marlin, Sandrine, Giurgea, Irina, Thuresson, Ann-Charlotte
Argitaratua 2011Text -
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PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations nork Oostdijk, Wilma, Idkowiak, Jan, Mueller, Jonathan W., House, Philip J., Taylor, Angela E., O'Reilly, Michael W., Hughes, Beverly A., de Vries, Martine C., Kant, Sarina G., Santen, Gijs W. E., Verkerk, Annemieke J. M. H., Uitterlinden, André G., Wit, Jan M., Losekoot, Monique, Arlt, Wiebke
Argitaratua 2015Text -
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Genetic Findings in Short Turkish Children Born to Consanguineous Parents nork Joustra, Sjoerd D., Isik, Emregul, Wit, Jan M., Catli, Gonul, Anik, Ahmet, Haliloglu, Belma, Kandemir, Nurgun, Ozsu, Elif, Hendriks, Yvonne M.C., de Bruin, Christiaan, Kant, Sarina G., Campos-Barros, Angel, Challis, Rachel C., Parry, David, Harley, Margaret E., Jackson, Andrew, Losekoot, Monique, van Duyvenvoorde, Hermine A.
Argitaratua 2024Text -
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De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome nork Simpson, Michael A., Deshpande, Charu, Dafou, Dimitra, Vissers, Lisenka E.L.M., Woollard, Wesley J., Holder, Susan E., Gillessen-Kaesbach, Gabriele, Derks, Ronny, White, Susan M., Cohen-Snuijf, Ruthy, Kant, Sarina G., Hoefsloot, Lies H., Reardon, Willie, Brunner, Han G., Bongers, Ernie M.H.F., Trembath, Richard C.
Argitaratua 2012Text -
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A bone overgrowth disorder due to a gain-of-function mutation in the kinase homology domain of guanylyl cyclase B, the receptor for CNP nork Kuhn, Michaela, Premsler, Thomas, Yang, Ruey-Bing, Mueller, Thomas D, Gaßner, Birgit, Oberwinkler, Heike, Hannema, Sabine E, van Duyvenvoorde, Hermine A, Roelfsema, Ferdinand, Santen, Gijs WE, Prickett, Timothy, Kant, Sarina G, Verkerk, Annemieke JMH, Uitterlinden, André G, Espiner, Eric, Ruivenkamp, Claudia AL, Oostdijk, Wilma, Pereira, Alberto M, Losekoot, Monique, Wit, Jan M
Argitaratua 2013Text -
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Copy number variants in patients with short stature nork van Duyvenvoorde, Hermine A, Lui, Julian C, Kant, Sarina G, Oostdijk, Wilma, Gijsbers, Antoinet CJ, Hoffer, Mariëtte JV, Karperien, Marcel, Walenkamp, Marie JE, Noordam, Cees, Voorhoeve, Paul G, Mericq, Verónica, Pereira, Alberto M, Claahsen-van de Grinten, Hedi L, van Gool, Sandy A, Breuning, Martijn H, Losekoot, Monique, Baron, Jeffrey, Ruivenkamp, Claudia AL, Wit, Jan M
Argitaratua 2014Text -
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Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome nork Ehmke, Nadja, Caliebe, Almuth, Koenig, Rainer, Kant, Sarina G., Stark, Zornitza, Cormier-Daire, Valérie, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Hoff, Kirstin, Kawalia, Amit, Thiele, Holger, Altmüller, Janine, Fischer-Zirnsak, Björn, Knaus, Alexej, Zhu, Na, Heinrich, Verena, Huber, Celine, Harabula, Izabela, Spielmann, Malte, Horn, Denise, Kornak, Uwe, Hecht, Jochen, Krawitz, Peter M., Nürnberg, Peter, Siebert, Reiner, Manzke, Hermann, Mundlos, Stefan
Argitaratua 2014Text -
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De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment nork Smits, Jeroen J., Oostrik, Jaap, Beynon, Andy J., Kant, Sarina G., de Koning Gans, Pia A. M., Rotteveel, Liselotte J. C., Klein Wassink-Ruiter, Jolien S., Free, Rolien H., Maas, Saskia M., van de Kamp, Jiddeke, Merkus, Paul, Koole, Wouter, Feenstra, Ilse, Admiraal, Ronald J. C., Lanting, Cornelis P., Schraders, Margit, Yntema, Helger G., Pennings, Ronald J. E., Kremer, Hannie
Argitaratua 2018Text -
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Further delineation of the KBG syndrome caused by ANKRD11 aberrations nork Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje WM, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa LE, Smeets, Eric EJ, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas JJ, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine EL, Kleefstra, Tjitske
Argitaratua 2015Text -
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Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations nork Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje WM, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa LE, Smeets, Eric EJ, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas JJ, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine EL, Kleefstra, Tjitske
Argitaratua 2015Text -
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The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands nork Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald JC, Pennings, Ronald JE, Kunst, Henricus PM, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia AM, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna GM, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie- José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G
Argitaratua 2017Text -
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Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis nork de Munnik, Sonja A, Bicknell, Louise S, Aftimos, Salim, Al-Aama, Jumana Y, van Bever, Yolande, Bober, Michael B, Clayton-Smith, Jill, Edrees, Alaa Y, Feingold, Murray, Fryer, Alan, van Hagen, Johanna M, Hennekam, Raoul C, Jansweijer, Maaike C E, Johnson, Diana, Kant, Sarina G, Opitz, John M, Ramadevi, A Radha, Reardon, Willie, Ross, Alison, Sarda, Pierre, Schrander-Stumpel, Constance T R M, Schoots, Jeroen, Temple, I Karen, Terhal, Paulien A, Toutain, Annick, Wise, Carol A, Wright, Michael, Skidmore, David L, Samuels, Mark E, Hoefsloot, Lies H, Knoers, Nine V A M, Brunner, Han G, Jackson, Andrew P, Bongers, Ernie M H F
Argitaratua 2012Text -
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The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants nork Tatton-Brown, Katrina, Zachariou, Anna, Loveday, Chey, Renwick, Anthony, Mahamdallie, Shazia, Aksglaede, Lise, Baralle, Diana, Barge-Schaapveld, Daniela, Blyth, Moira, Bouma, Mieke, Breckpot, Jeroen, Crabb, Beau, Dabir, Tabib, Cormier-Daire, Valerie, Fauth, Christine, Fisher, Richard, Gener, Blanca, Goudie, David, Homfray, Tessa, Hunter, Matthew, Jorgensen, Agnete, Kant, Sarina G., Kirally-Borri, Cathy, Koolen, David, Kumar, Ajith, Labilloy, Anatalia, Lees, Melissa, Marcelis, Carlo, Mercer, Catherine, Mignot, Cyril, Miller, Kathryn, Neas, Katherine, Newbury-Ecob, Ruth, Pilz, Daniela T., Posmyk, Renata, Prada, Carlos, Ramsey, Keri, Randolph, Linda M., Selicorni, Angelo, Shears, Deborah, Suri, Mohnish, Temple, I. Karen, Turnpenny, Peter, Van Maldergem, Lionel, Varghese, Vinod, Veenstra-Knol, Hermine E., Yachelevich, Naomi, Yates, Laura, Rahman, Nazneen
Argitaratua 2018Text