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Sacherschließung
Metabolic Diseases
(18)
Humans [MeSH]
(18)
Molecular Medicine
(16)
Human Genetics
(16)
Gene Function
(16)
Original Investigation
(14)
Male [MeSH]
(10)
Phenotype [MeSH]
(5)
Pedigree [MeSH]
(5)
Female [MeSH]
(5)
Publikationstyp
Artikel
(18)
Erscheinungsjahr
2021
(14)
2020
(4)
Institution
18 Treffer
Seiten
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Kurzansicht
E-Jahr
Zugriff
Typ
Operations
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
|
Henn, Wolfram
2021
http://purl.org/ontology/bibo/Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
2021 .
Kreienkamp, Hans-Jürgen
|
Wagner, Matias
|
Weigand, Heike
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McConkie-Rossell, Allyn
|
McDonald, Marie
|
Keren, Boris
|
Mignot, Cyril
|
Gauthier, Julie
|
Soucy, Jean-François
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Michaud, Jacques L.
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Dumas, Meghan
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Smith, Rosemarie
|
Löbel, Ulrike
|
Hempel, Maja
|
Kubisch, Christian
|
Denecke, Jonas
|
Campeau, Philippe M.
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Bain, Jennifer M.
|
Lessel, Davor
2021
http://purl.org/ontology/bibo/Article
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
2021 .
Bahena, Paulina
|
Daftarian, Narsis
|
Maroofian, Reza
|
Linares, Paola
|
Villalobos, Daniel
|
Mirrahimi, Mehraban
|
Rad, Aboulfazl
|
Doll, Julia
|
Hofrichter, Michaela A. H.
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Koparir, Asuman
|
Röder, Tabea
|
Han, Seungbin
|
Sabbaghi, Hamideh
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Ahmadieh, Hamid
|
Behboudi, Hassan
|
Villanueva-Mendoza, Cristina
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Cortés-Gonzalez, Vianney
|
Zamora-Ortiz, Rocio
|
Kohl, Susanne
|
Kuehlewein, Laura
|
Darvish, Hossein
|
Alehabib, Elham
|
Arenas-Sordo, Maria de la Luz
|
Suri, Fatemeh
|
Vona, Barbara
|
Haaf, Thomas
2021
http://purl.org/ontology/bibo/Article
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome
2020 .
Ufartes, Roser
|
Berger, Hanna
|
Till, Katharina
|
Salinas, Gabriela
|
Sturm, Marc
|
Altmüller, Janine
|
Nürnberg, Peter
|
Thiele, Holger
|
Funke, Rudolf
|
Apeshiotis, Neophytos
|
Langen, Hendrik
|
Wollnik, Bernd
|
Borchers, Annette
|
, Silke
2020
http://purl.org/ontology/bibo/Article
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies
2020 .
Lessel, Ivana
|
Chen, Mei-Jan
|
Lüttgen, Sabine
|
Arndt, Florian
|
Fuchs, Sigrid
|
Meien, Stefanie
|
Thiele, Holger
|
Jones, Julie R.
|
Shaw, Brandon R.
|
Crossman, David K.
|
Nürnberg, Peter
|
Korf, Bruce R.
|
Kubisch, Christian
|
Lessel, Davor
2020
http://purl.org/ontology/bibo/Article
Why is the presence of autoantibodies against GAD associated with a relatively slow progression to clinical diabetes?
2020 .
Ziegler, Anette-Gabriele
|
Bonifacio, Ezio
2020
http://purl.org/ontology/bibo/Article
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
2020 .
Ganapathi, Mythily
|
Argyriou, Loukas
|
Martínez-Azorín, Francisco
|
Morlot, Susanne
|
Yigit, Gökhan
|
Lee, Teresa
|
Auber, Bernd
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von Gise, Alexander
|
Petrey, Donald S.
|
Thiele, Holger
|
Cyganek, Lukas
|
Sabater-Molina, Maria
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Ahimaz, Priyanka
|
Cabezas-Herrera, Juan
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Sorlí García , Moises
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Zibat, Arne
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Siegelin, Markus
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Burfeind, Peter
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Buchovecky, Christie M.
|
Hasenfuss, Gerd
|
Honig, Barry
|
Li, Yun
|
Iglesias, Alejandro
|
Wollnik, Bernd
2020
http://purl.org/ontology/bibo/Article
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