Rezultati pretrage - Rauch, Anita

Exome sequencing in unspecific intellectual disability and rare disorders od Rauch, Anita

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Clinical utility gene card for: Mowat–Wilson syndrome od Zollino, Marcella, Garavelli, Livia, Rauch, Anita

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Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1) od Schwinger, Eberhard, Devriendt, Koen, Rauch, Anita, Philip, Nicole

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Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum od Thiel, Christian T. , Mortier, Geert , Kaitila, Ilkka , Reis, André , Rauch, Anita 

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Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions od Zweier, Christiane, Sticht, Heinrich, Aydin-Yaylagül, Inci, Campbell, Christine E., Rauch, Anita

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LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this conditi... od Hart, Lesley, Rauch, Anita, Carr, Antony M., Vermeesch, Joris R., O’Driscoll, Mark

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Clinical and Genetic Distinction of Schimke Immuno-Osseous Dysplasia and Cartilage-Hair Hypoplasia od Baradaran-Heravi, Alireza, Thiel, Christian, Rauch, Anita, Zenker, Martin, Boerkoel, Cornelius F., Kaitila, Ilkka

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Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia–telangiectasia mutated gene) od Asadollahi, Reza, Britschgi, Christian, Joset, Pascal, Oneda, Beatrice, Schindler, Detlev, Meier, Urs R., Rauch, Anita

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A Dual Phenotype of Periventricular Nodular Heterotopia and Frontometaphyseal Dysplasia in One Patient Caused by a Single FLNA Mutation Leading to Two Functionally Different Aberra... od Zenker, Martin, Rauch, Anita, Winterpacht, Andreas, Tagariello, Andreas, Kraus, Cornelia, Rupprecht, Thomas, Sticht, Heinrich, Reis, André

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CUGC for Simpson-Golabi-Behmel syndrome (SGBS) od Vuillaume, Marie-Laure, Moizard, Marie-Pierre, Baumer, Alessandra, Cottereau, Edouard, Brioude, Frédéric, Rauch, Anita, Toutain, Annick

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The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B od Zweier, Markus, Peippo, Maarit M., Pöyhönen, Minna, Kääriäinen, Helena, Begemann, Anaïs, Joset, Pascal, Oneda, Beatrice, Rauch, Anita

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Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature od Gogoll, Laura, Steindl, Katharina, Joset, Pascal, Zweier, Markus, Baumer, Alessandra, Gerth‐Kahlert, Christina, Tutschek, Boris, Rauch, Anita

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High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder od Grünblatt, Edna, Oneda, Beatrice, Ekici, Arif B., Ball, Juliane, Geissler, Julia, Uebe, Steffen, Romanos, Marcel, Rauch, Anita, Walitza, Susanne

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Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1 od Tibelius, Alexandra, Marhold, Joachim, Zentgraf, Hanswalter, Heilig, Christoph E., Neitzel, Heidemarie, Ducommun, Bernard, Rauch, Anita, Ho, Anthony D., Bartek, Jiri, Krämer, Alwin

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Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders od Oneda, Beatrice, Asadollahi, Reza, Azzarello-Burri, Silvia, Niedrist, Dunja, Baldinger, Rosa, Masood, Rahim, Schinzel, Albert, Latal, Bea, Jenni, Oskar G., Rauch, Anita

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De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females od Popp, Bernt, Støve, Svein I, Endele, Sabine, Myklebust, Line M, Hoyer, Juliane, Sticht, Heinrich, Azzarello-Burri, Silvia, Rauch, Anita, Arnesen, Thomas, Reis, André

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Rare Copy Number Variants Are a Common Cause of Short Stature od Zahnleiter, Diana, Uebe, Steffen, Ekici, Arif B., Hoyer, Juliane, Wiesener, Antje, Wieczorek, Dagmar, Kunstmann, Erdmute, Reis, André, Doerr, Helmuth-Guenther, Rauch, Anita, Thiel, Christian T.

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Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency od Abela, Lucia, Spiegel, Ronen, Crowther, Lisa M., Klein, Andrea, Steindl, Katharina, Papuc, Sorina Mihaela, Joset, Pascal, Zehavi, Yoav, Rauch, Anita, Plecko, Barbara, Simmons, Thomas Luke

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Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability od Asadollahi, Reza, Oneda, Beatrice, Sheth, Frenny, Azzarello-Burri, Silvia, Baldinger, Rosa, Joset, Pascal, Latal, Beatrice, Knirsch, Walter, Desai, Soaham, Baumer, Alessandra, Houge, Gunnar, Andrieux, Joris, Rauch, Anita

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Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome od VanSickle, Elizabeth A., Michael, Julianne, Bachmann, André S., Rajasekaran, Surender, Prokop, Jeremy W., Kuzniecky, Ruben, Hofstede, Floris C., Steindl, Katharina, Rauch, Anita, Lipson, Mark H., Bupp, Caleb P.

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