Search Results - Grasshoff, Ute

PHIP-associated Chung-Jansen syndrome: report of 23 new individuals by Kampmeier, Antje (Author) , Leitão, Elsa (Author) , Parenti, Ilaria (Author) , Beygo, Jasmin (Author) , Depienne, Christel (Author) , Bramswig, Nuria C (Author) , Hsieh, Tzung-Chien (Author) , Afenjar, Alexandra (Author) , Beck-Wödl, Stefanie (Author) , Grasshoff, Ute (Author) , Haack, Tobias B (Author) , Bijlsma, Emilia K (Author) , Ruivenkamp, Claudia (Author) , Lausberg, Eva (Author) , Elbracht, Miriam (Author) , Haanpää, Maria K (Author) , Koillinen, Hannele (Author) , Heinrich, Uwe (Author) , Rost, Imma (Author) , Jamra, Rami Abou (Author) , Popp, Denny (Author) , Koch-Hogrebe, Margarete (Author) , Rostasy, Kevin (Author) , López-González, Vanesa (Author) , Sanchez-Soler, María José (Author) , Macedo, Catarina (Author) , Schmetz, Ariane (Author) , Steinborn, Carmen (Author) , Weidensee, Sabine (Author) , Lesmann, Hellen (Author) , Marbach, Felix (Author) , Caro, Pilar (Author) , Schaaf, Christian P. (Author) , Krawitz, Peter (Author) , Wieczorek, Dagmar (Author) , Kaiser, Frank J (Author) , Kuechler, Alma (Author) ,

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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss by Richard, Elodie M. (Author) , Bakhtiari, Somayeh (Author) , Marsh, Ashley P. L. (Author) , Kaiyrzhanov, Rauan (Author) , Wagner, Matias (Author) , Shetty, Sheetal (Author) , Pagnozzi, Alex (Author) , Nordlie, Sandra M. (Author) , Guida, Brandon S. (Author) , Cornejo, Patricia (Author) , Magee, Helen (Author) , Liu, James (Author) , Norton, Bethany Y. (Author) , Webster, Richard I. (Author) , Worgan, Lisa (Author) , Hakonarson, Hakon (Author) , Li, Jiankang (Author) , Guo, Yiran (Author) , Jain, Mahim (Author) , Blesson, Alyssa (Author) , Rodan, Lance H. (Author) , Abbott, Mary-Alice (Author) , Comi, Anne (Author) , Cohen, Julie S. (Author) , Alhaddad, Bader (Author) , Meitinger, Thomas (Author) , Lenz, Dominic (Author) , Ziegler, Andreas (Author) , Kotzaeridou, Urania (Author) , Brunet, Theresa (Author) , Chassevent, Anna (Author) , Smith-Hicks, Constance (Author) , Ekstein, Joseph (Author) , Weiden, Tzvi (Author) , Hahn, Andreas (Author) , Zharkinbekova, Nazira (Author) , Turnpenny, Peter (Author) , Tucci, Arianna (Author) , Yelton, Melissa (Author) , Horvath, Rita (Author) , Gungor, Serdal (Author) , Hiz, Semra (Author) , Oktay, Yavuz (Author) , Lochmuller, Hanns (Author) , Zollino, Marcella (Author) , Morleo, Manuela (Author) , Marangi, Giuseppe (Author) , Nigro, Vincenzo (Author) , Torella, Annalaura (Author) , Pinelli, Michele (Author) , Amenta, Simona (Author) , Husain, Ralf A. (Author) , Grossmann, Benita (Author) , Rapp, Marion (Author) , Steen, Claudia (Author) , Marquardt, Iris (Author) , Grimmel, Mona (Author) , Grasshoff, Ute (Author) , Korenke, Christoph (Author) , Owczarek-Lipska, Marta (Author) , Neidhardt, John (Author) , Radio, Francesca Clementina (Author) , Mancini, Cecilia (Author) , Claps Sepulveda, Dianela Judith (Author) , McWalter, Kirsty (Author) , Begtrup, Amber (Author) , Crunk, Amy (Author) , Guillen Sacoto, Maria J. (Author) , Person, Richard (Author) , Schnur, Rhonda E. (Author) , Mancardi, Maria Margherita (Author) , Kreuder, Florian (Author) , Striano, Pasquale (Author) , Zara, Federico (Author) , Chung, Wendy K. (Author) , Marks, Warren A. (Author) , van Eyk, Clare L. (Author) , Webber, Dani L. (Author) , Corbett, Mark A. (Author) , Harper, Kelly (Author) , Berry, Jesia G. (Author) , MacLennan, Alastair H. (Author) , Gecz, Jozef (Author) , Tartaglia, Marco (Author) , Salpietro, Vincenzo (Author) , Christodoulou, John (Author) , Kaslin, Jan (Author) , Padilla-Lopez, Sergio (Author) , Bilguvar, Kaya (Author) , Munchau, Alexander (Author) , Ahmed, Zubair M. (Author) , Hufnagel, Robert B. (Author) , Fahey, Michael C. (Author) , Maroofian, Reza (Author) , Houlden, Henry (Author) , Sticht, Heinrich (Author) , Mane, Shrikant M. (Author) , Rad, Aboulfazl (Author) , Vona, Barbara (Author) , Jin, Sheng Chih (Author) , Haack, Tobias B. (Author) , Makowski, Christine (Author) , Hirsch, Yoel (Author) , Riazuddin, Saima (Author) , Kruer, Michael C. (Author) ,

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Genome-wide UPD screening in patients with intellectual disability by Schroeder, Christopher Maximilian (Author) , Ekici, Arif Bülent (Author) , Moog, Ute (Author) , Grasshoff, Ute (Author) , Mau-Holzmann, Ulrike (Author) , Sturm, Marc (Author) , Vosseler, Vanessa (Author) , Poths, Sven (Author) , Rappold, Gudrun (Author) , Riess, Angelika (Author) , Riess, Olaf (Author) , Dufke, Andreas (Author) , Bonin, Michael (Author) ,

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Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability by Gazou, Anastasia (Author) , Riess, Angelika (Author) , Grasshoff, Ute (Author) , Schäferhoff, Karin (Author) , Bonin, Michael (Author) , Jauch, Anna (Author) , Riess, Olaf (Author) , Tzschach, Andreas (Author) ,

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De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation by Grasshoff, Ute (Author) , Bonin, Michael (Author) , Goehring, Ina (Author) , Ekici, Arif (Author) , Dufke, Andreas (Author) , Cremer, Kirsten (Author) , Wagner, Nicholas (Author) , Rossier, Eva (Author) , Jauch, Anna (Author) , Walter, Michael (Author) , Bauer, Claudia (Author) , Bauer, Peter (Author) , Horber, Karl (Author) , Beck-Woedl, Stefanie (Author) , Wieczorek, Dagmar (Author) ,

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Phenotypic spectrum associated with CASK loss-of-function mutations by Moog, Ute (Author) , Kutsche, Kerstin (Author) , Kortüm, Fanny (Author) , Chilian, Bettina (Author) , Bierhals, Tatjana (Author) , Apeshiotis, Neophytos (Author) , Balg, Stefanie (Author) , Chassaing, Nicolas (Author) , Coubes, Christine (Author) , Das, Soma (Author) , Engels, Hartmut (Author) , Esch, Hilde Van (Author) , Grasshoff, Ute (Author) , Heise, Marisol (Author) , Isidor, Bertrand (Author) , Jarvis, Joanna (Author) , Koehler, Udo (Author) , Martin, Thomas (Author) , Oehl-Jaschkowitz, Barbara (Author) , Ortibus, Els (Author) , Pilz, Daniela T. (Author) , Prabhakar, Prab (Author) , Rappold, Gudrun (Author) , Rau, Isabella (Author) , Rettenberger, Günther (Author) , Schlüter, Gregor (Author) , Scott, Richard H. (Author) , Shoukier, Moonef (Author) , Wohlleber, Eva (Author) , Zirn, Birgit (Author) , Dobyns, William B. (Author) , Uyanik, Gökhan (Author) ,

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Phenotypic spectrum associated with CASK loss-of-function mutations by Moog, Ute (Author) , Kutsche, Kerstin (Author) , Kortüm, Fanny (Author) , Chilian, Bettina (Author) , Bierhals, Tatjana (Author) , Apeshiotis, Neophytos (Author) , Balg, Stefanie (Author) , Chassaing, Nicolas (Author) , Coubes, Christine (Author) , Das, Soma (Author) , Engels, Hartmut (Author) , Esch, Hilde Van (Author) , Grasshoff, Ute (Author) , Heise, Marisol (Author) , Isidor, Bertrand (Author) , Jarvis, Joanna (Author) , Koehler, Udo (Author) , Martin, Thomas (Author) , Oehl-Jaschkowitz, Barbara (Author) , Ortibus, Els (Author) , Pilz, Daniela T. (Author) , Prabhakar, Prab (Author) , Rappold, Gudrun (Author) , Rau, Isabella (Author) , Rettenberger, Günther (Author) , Schlüter, Gregor (Author) , Scott, Richard H. (Author) , Shoukier, Moonef (Author) , Wohlleber, Eva (Author) , Zirn, Birgit (Author) , Dobyns, William B. (Author) , Uyanik, Gökhan (Author) ,

Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia by Endris, Volker (Author) , Hackmann, Karl (Author) , Neuhann, Teresa M. (Author) , Grasshoff, Ute (Author) , Bonin, Michael (Author) , Haug, Ulrich (Author) , Hahn, Gabriele (Author) , Schallner, Jens C. (Author) , Schröck, Evelin (Author) , Tinschert, Sigrid (Author) , Rappold, Gudrun (Author) , Moog, Ute (Author) ,

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