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Humans [MeSH]
[x]
Sacherschließung
Human Genetics
(28)
Molecular Medicine
(23)
Metabolic Diseases
(16)
Gene Function
(16)
Original Investigation
(14)
Male [MeSH]
(10)
Female [MeSH]
(7)
Phenotype [MeSH]
(6)
Mutation [MeSH]
(5)
Publikationstyp
Artikel
(28)
Medium
Erscheinungsjahr
2021
(22)
2020
(6)
Institution
28 Treffer
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Operations
Reply to: “Hysterectomy versus continuing conservative management: which is better for disseminated intravascular coagulation?”; Shinya Matsuzaki, MD, PhD, Yoshikazu Nagase, MD, Masayuki Endo, MD, PhD, Tadashi Kimura, MD, PhD
2021 .
Biele, C.
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Kaufner, L.
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Nonnenmacher, A.
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von Weizsäcker, K.
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Muallem, M. Z.
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Henrich, W.
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Braun, Thorsten
2021
http://purl.org/ontology/bibo/Article
Embeddings from protein language models predict conservation and variant effects
2021 .
Marquet, Céline
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Heinzinger, Michael
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Olenyi, Tobias
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Dallago, Christian
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Erckert, Kyra
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Bernhofer, Michael
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Nechaev, Dmitrii
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Rost, Burkhard
2021
http://purl.org/ontology/bibo/Article
Genome sequencing in families with congenital limb malformations
2021 .
Elsner, Jonas
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Mensah, Martin A.
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Holtgrewe, Manuel
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Hertzberg, Jakob
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Bigoni, Stefania
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Busche, Andreas
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Coutelier, Marie
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de Silva, Deepthi C.
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Elçioglu, Nursel
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Filges, Isabel
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Gerkes, Erica
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Girisha, Katta M.
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Graul-Neumann, Luitgard
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Jamsheer, Aleksander
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Krawitz, Peter
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Kurth, Ingo
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Markus, Susanne
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Megarbane, Andre
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Reis, André
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Reuter, Miriam S.
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Svoboda, Daniel
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Teller, Christopher
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Tuysuz, Beyhan
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Türkmen, Seval
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Wilson, Meredith
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Woitschach, Rixa
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Vater, Inga
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Caliebe, Almuth
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Hülsemann, Wiebke
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Horn, Denise
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Mundlos, Stefan
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Spielmann, Malte
2021
http://purl.org/ontology/bibo/Article
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
2021 .
Vona, Barbara
|
Mazaheri, Neda
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Lin, Sheng-Jia
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Dunbar, Lucy
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Maroofian, Reza
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Azaiez, Hela
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Booth, Kevin T.
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Vitry, Sandrine
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Rad, Abolfazl
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Rüschendorf, Franz
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Varshney, Pratishtha
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Fowler, Ben
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Beetz, Christian
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Alagramam, Kumar N.
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Murphy, David
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Shariati, Gholamreza
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Sedaghat, Alireza
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Houlden, Henry
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Petree, Cassidy
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VijayKumar, Shruthi
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Smith, Richard
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Haaf, Thomas
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EL-AMRAOUI, Aziz
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Bowl, Michael
|
Varshney, Gaurav K.
|
Galehdari, Hamid
2021
http://purl.org/ontology/bibo/Article
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants
2021 .
Kehrer-Sawatzki, Hildegard
|
Cooper, David N.
2021
http://purl.org/ontology/bibo/Article
The fetus in the age of the genome
2021 .
, Dagmar
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Henn, Wolfram
2021
http://purl.org/ontology/bibo/Article
Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer
2021 .
Ripperger, Tim
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Evans, D Gareth
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Malkin, David
|
Kratz, Christian
2021
http://purl.org/ontology/bibo/Article
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
2021 .
Mannucci, Ilaria
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Dang, Nghi D. P.
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Huber, Hannes
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Murry, Jaclyn B.
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Abramson, Jeff
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Althoff, Thorsten
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Banka, Siddharth
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Baynam, Gareth
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Bearden, David
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Beleza-Meireles, Ana
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Benke, Paul J.
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Berland, Siren
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Bierhals, Tatjana
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Bilan, Frederic
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Bindoff, Laurence A.
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Braathen, Geir Julius
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Busk, Øyvind L.
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Chenbhanich, Jirat
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Denecke, Jonas
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Escobar, Luis F.
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Estes, Caroline
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Fleischer, Julie
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Groepper, Daniel
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Haaxma, Charlotte A.
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Hempel, Maja
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Holler-Managan, Yolanda
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Houge, Gunnar
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Jackson, Adam
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Kellogg, Laura
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Keren, Boris
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Kiraly-Borri, Catherine
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Kraus, Cornelia
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Kubisch, Christian
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Le Guyader, Gwenael
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Ljungblad, Ulf W.
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Brenman, Leslie Manace
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Martinez-Agosto, Julian A.
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Might, Matthew
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Miller, David T.
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Minks, Kelly Q.
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Moghaddam, Billur
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Nava, Caroline
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Nelson, Stanley F.
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Parant, John M.
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Prescott, Trine
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Rajabi, Farrah
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Randrianaivo, Hanitra
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Reiter, Simone F.
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Schuurs-Hoeijmakers, Janneke
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Shieh, Perry B.
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Slavotinek, Anne
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Smithson, Sarah
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Stegmann, Alexander P. A.
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Tomczak, Kinga
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Tveten, Kristian
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Wang, Jun
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Whitlock, Jordan H.
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Zweier, Christiane
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McWalter, Kirsty
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Juusola, Jane
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Quintero-Rivera, Fabiola
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Fischer, Utz
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Yeo, Nan Cher
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Kreienkamp, Hans-Jürgen
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Lessel, Davor
2021
http://purl.org/ontology/bibo/Article
Achromatopsia: Genetics and Gene Therapy
2021 .
Michalakis, Stylianos
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Gerhardt, Maximilian
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Rudolph, Günther
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Priglinger, Siegfried
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Priglinger, Claudia
2021
http://purl.org/ontology/bibo/Article
Solving the unsolved rare diseases in Europe
2021 .
Graessner, Holm
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Zurek, Birte
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Hoischen, Alexander
|
Beltran, Sergi
2021
http://purl.org/ontology/bibo/Article
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