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Medical genetics
(8)
Humans [MeSH]
(6)
Xenopus [MeSH]
(1)
Whole Exome Sequencing/methods [MeSH]
(1)
Viewpoint
(1)
Vesico-Ureteral Reflux/pathology [MeSH]
(1)
Vesico-Ureteral Reflux/genetics [MeSH]
(1)
Urogenital Abnormalities/pathology [MeSH]
(1)
Urogenital Abnormalities/genetics [MeSH]
(1)
Transcription Factors/genetics [MeSH]
(1)
Publikationstyp
Artikel
(8)
Erscheinungsjahr
2023
(1)
2021
(5)
2020
(2)
Institution
Bundesinstitut für Arzneimittel und Medizinprodukte
(1)
8 Treffer
Kurzansicht
E-Jahr
Zugriff
Typ
Operations
Striated muscle-specific base editing enables correction of mutations causing dilated cardiomyopathy
2023 .
Grosch, Markus
|
Schraft, Laura
|
Chan, Adrian
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Küchenhoff, Leonie
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Rapti, Kleopatra
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Ferreira, Anne-Maud
|
Kornienko, Julia
|
Li, Shengdi
|
Radke, Michael
|
Krämer, Chiara
|
Clauder-Münster, Sandra
|
Perlas, Emerald
|
Backs, Johannes
|
Gotthardt, Michael
|
Dieterich, Christoph
|
van den Hoogenhof, Maarten
|
Grimm, Dirk
|
Steinmetz, Lars
2023
http://purl.org/ontology/bibo/Article
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
2021 .
Vissers, Lisenka
|
Schüle, Rebecca
|
Synofzik, Matthis
|
Töpf, Ana
|
Gilissen, Christian
|
Ossowski, Stephan
|
't Hoen, Peter
|
Schulze-Hentrich, Julia M.
|
Riess, Olaf
|
Brunner, Han G.
|
Brookes, Anthony
|
Rath, Ana
|
Bonne, Gisèle
|
hoogerbrugge, nicoline
|
Evangelista, Teresinha
|
Harmuth, Tina
|
Swertz, Morris
|
Spalding, John Dylan
|
Hoischen, Alexander
|
Graessner, Holm
|
Haack, Tobias B.
|
Zurek, Birte
|
Ellwanger, Kornelia
|
Demidov, German
|
Sturm, Marc
|
Kessler, Christoph
|
Wayand, Melanie
|
Wilke, Carlo
|
Traschütz, Andreas
|
Schöls, Ludger
|
Hengel, Holger
|
Heutink, Peter
|
Brunner, Han
|
Scheffer, Hans
|
Steyaert, Wouter
|
Sablauskas, Karolis
|
de Voer, Richarda M.
|
Kamsteeg, Erik-Jan
|
van de Warrenburg, Bart
|
van Os, Nienke
|
te Paske, Iris
|
Janssen, Erik
|
de Boer, Elke
|
Steehouwer, Marloes
|
Yaldiz, Burcu
|
Kleefstra, Tjitske
|
Veal, Colin
|
Gibson, Spencer
|
Wadsley, Marc
|
Mehtarizadeh, Mehdi
|
Riaz, Umar
|
Warren, Greg
|
Dizjikan, Farid Yavari
|
Shorter, Thomas
|
Straub, Volker
|
Bettolo, Chiara Marini
|
Specht, Sabine
|
Clayton-Smith, Jill
|
Banka, Siddharth
|
Alexander, Elizabeth
|
Jackson, Adam
|
Faivre, Laurence
|
Thauvin, Christel
|
Vitobello, Antonio
|
Denommé-Pichon, Anne-Sophie
|
Duffourd, Yannis
|
Tisserant, Emilie
|
Bruel, Ange-Line
|
Peyron, Christine
|
Pélissier, Aurore
|
Beltran, Sergi
|
Gut, Ivo Glynne
|
Laurie, Steven
|
Piscia, Davide
|
Matalonga, Leslie
|
Papakonstantinou, Anastasios
|
Bullich, Gemma
|
Corvo, Alberto
|
Garcia, Carles
|
Fernandez-Callejo, Marcos
|
Hernández, Carles
|
Picó, Daniel
|
Paramonov, Ida
|
Gumus, Gulcin
|
Bros-Facer, Virginie
|
Hanauer, Marc
|
Olry, Annie
|
Lagorce, David
|
Havrylenko, Svitlana
|
Izem, Katia
|
Rigour, Fanny
|
Stevanin, Giovanni
|
Durr, Alexandra
|
Davoine, Claire-Sophie
|
Guillot-Noel, Léna
|
Heinzmann, Anna
|
Coarelli, Giulia
|
Allamand, Valérie
|
Nelson, Isabelle
|
Yaou, Rabah Ben
|
Metay, Corinne
|
Eymard, Bruno
|
Cohen, Enzo
|
Atalaia, Antonio
|
Stojkovic, Tanya
|
Macek, Milan
|
Turnovec, Marek
|
Thomasová, Dana
|
Kremliková, Radka Pourová
|
Franková, Vera
|
Havlovicová, Markéta
|
Kremlik, Vlastimil
|
Parkinson, Helen
|
Keane, Thomas
|
Senf, Alexander
|
Robinson, Peter
|
Danis, Daniel
|
Robert, Glenn
|
Costa, Alessia
|
Patch, Christine
|
Hanna, Mike
|
Houlden, Henry
|
Reilly, Mary
|
Vandrovcova, Jana
|
Muntoni, Francesco
|
Zaharieva, Irina
|
Sarkozy, Anna
|
Timmerman, Vincent
|
Baets, Jonathan
|
Van de Vondel, Liedewei
|
Beijer, Danique
|
de Jonghe, Peter
|
Nigro, Vincenzo
|
Banfi, Sandro
|
Torella, Annalaura
|
Musacchia, Francesco
|
Piluso, Giulio
|
Ferlini, Alessandra
|
Selvatici, Rita
|
Rossi, Rachele
|
Neri, Marcella
|
Aretz, Stefan
|
Spier, Isabel
|
Sommer, Anna Katharina
|
Peters, Sophia
|
Oliveira, Carla
|
Pelaez, Jose Garcia
|
Matos, Ana Rita
|
José, Celina São
|
Ferreira, Marta
|
Gullo, Irene
|
Fernandes, Susana
|
Garrido, Luzia
|
Ferreira, Pedro
|
Carneiro, Fátima
|
Swertz, Morris A.
|
Johansson, Lennart
|
van der Velde, Joeri K.
|
van der Vries, Gerben
|
Neerincx, Pieter B.
|
Roelofs-Prins, Dieuwke
|
Köhler, Sebastian
|
Metcalfe, Alison
|
Verloes, Alain
|
Drunat, Séverine
|
Rooryck, Caroline
|
Trimouille, Aurelien
|
Castello, Raffaele
|
Morleo, Manuela
|
Pinelli, Michele
|
Varavallo, Alessandra
|
De la Paz, Manuel Posada
|
Sánchez, Eva Bermejo
|
Martín, Estrella López
|
Delgado, Beatriz Martínez
|
de la Rosa, F. Javier Alonso García
|
Ciolfi, Andrea
|
Dallapiccola, Bruno
|
Pizzi, Simone
|
Radio, Francesca Clementina
|
Tartaglia, Marco
|
Renieri, Alessandra
|
Benetti, Elisa
|
Balicza, Peter
|
Molnar, Maria Judit
|
Maver, Ales
|
Peterlin, Borut
|
Münchau, Alexander
|
Lohmann, Katja
|
Herzog, Rebecca
|
Pauly, Martje
|
Macaya, Alfons
|
Marcé-Grau, Anna
|
Osorio, Andres Nascimiento
|
de Benito, Daniel Natera
|
Lochmüller, Hanns
|
Thompson, Rachel
|
Polavarapu, Kiran
|
Beeson, David
|
Cossins, Judith
|
Cruz, Pedro M. Rodriguez
|
Hackman, Peter
|
Johari, Mridul
|
Savarese, Marco
|
Udd, Bjarne
|
Horvath, Rita
|
Capella, Gabriel
|
Valle, Laura
|
Holinski-Feder, Elke
|
Laner, Andreas
|
Steinke-Lange, Verena
|
Schröck, Evelin
|
Rump, Andreas
2021
http://purl.org/ontology/bibo/Article
Currarino syndrome: a comprehensive genetic review of a rare congenital disorder
2021 .
Dworschak, Gabriel
|
Reutter, Heiko M.
|
Ludwig, Michael
2021
http://purl.org/ontology/bibo/Article
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
2021 .
Hüffmeier, Ulrike
|
Kraus, Cornelia
|
Reuter, Miriam S.
|
Uebe, Steffen
|
Abbott, Mary-Alice
|
Ahmed, Syed A.
|
Rawson, Kristyn L.
|
Barr, Eileen
|
Li, Hong
|
Bruel, Ange-Line
|
Faivre, Laurence
|
Tran Mau-Them, Frédéric
|
Botti, Christina
|
Brooks, Susan
|
Burns, Kaitlyn
|
Ward, D. Isum
|
Dutra-Clarke, Marina
|
Martinez-Agosto, Julian A.
|
Lee, Hane
|
Nelson, Stanley F.
|
Zacher, Pia
|
Abou Jamra, Rami
|
Klöckner, Chiara
|
McGaughran, Julie
|
Kohlhase, Jürgen
|
Schuhmann, Sarah
|
Moran, Ellen
|
Pappas, John
|
Raas-Rothschild, Annick
|
Sacoto, Maria J. Guillen
|
Henderson, Lindsay B.
|
Palculict, Timothy Blake
|
Mullegama, Sureni V.
|
Zghal Elloumi, Houda
|
Reich, Adi
|
Schrier Vergano, Samantha A.
|
Wahl, Erica
|
Reis, André
|
Zweier, Christiane
2021
http://purl.org/ontology/bibo/Article
Persistent astrocytic IL-3 stimulation of microglia slows disease in Alzheimer’s: treatment perspectives for Alzheimer’s
2021 .
Haag, Natja
|
Zempel, Hans
2021
http://purl.org/ontology/bibo/Article
Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy
2021 .
Lieberwirth, Johann Kaspar
|
Joset, Pascal
|
Heinze, Anja
|
Hentschel, Julia
|
Stein, Anja
|
Iannaccone, Antonella
|
Steindl, Katharina
|
Kuechler, Alma
|
Abou Jamra, Rami
2021
http://purl.org/ontology/bibo/Article
Rare heterozygous GDF6 variants in patients with renal anomalies
2020 .
Martens, Helge
|
Hennies, Imke
|
Getwan, Maike
|
Christians, Anne
|
Weiss, Anna-Carina
|
Brand, Frank
|
Gjerstad, Ann Christin
|
Christians, Arne
|
Gucev, Zoran
|
Geffers, Robert
|
Seeman, Tomáš
|
Kispert, Andreas
|
Tasic, Velibor
|
Bjerre, Anna
|
Lienkamp, Soeren S.
|
Haffner, Dieter
|
Weber, Ruthild
2020
http://purl.org/ontology/bibo/Article
Citalopram-induced pathways regulation and tentative treatment-outcome-predicting biomarkers in lymphoblastoid cell lines from depression patients
2020 .
Barakat, Abdul Karim
|
Scholl, Catharina
|
Steffens, Michael
|
Brandenburg, Kerstin
|
Ising, Marcus
|
Lucae, Susanne
|
Holsboer, Florian
|
Laje, Gonzalo
|
Kalayda, Ganna V.
|
Jaehde, Ulrich
|
Stingl, Julia
2020
http://purl.org/ontology/bibo/Article