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2020
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Pedigree [MeSH]
(5)
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(5)
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(5)
Whole Genome Sequencing [MeSH]
(1)
Whole Exome Sequencing/statistics
(1)
Whole Exome Sequencing/standards [MeSH]
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Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important
2020 .
Eggermann, Thomas
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Brück, Johanna
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Knopp, Cordula
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Fekete, György
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Kratz, Christian
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Tasic, Velibor
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Kurth, Ingo
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Elbracht, Miriam
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Eggermann, Katja
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Begemann, Matthias
2020
http://purl.org/ontology/bibo/Article
Whole genome sequencing and phylogenetic classification of Tunisian SARS-CoV-2 strains from patients of the Military Hospital in Tunis
2020 .
Handrick, Susann
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Bestehorn-Willmann, Malena
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Eckstein, Simone
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Walter, Mathias C.
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Antwerpen, Markus H.
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Naija, Habiba
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Stoecker, Kilian
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Wölfel, Roman
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Ben Moussa, Mohamed
2020
http://purl.org/ontology/bibo/Article
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery
2020 .
Hengel, Holger
|
Buchert, Rebecca
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Sturm, Marc
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Haack, Tobias B.
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Schelling, Yvonne
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Mahajnah, Muhammad
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Sharkia, Rajech
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Azem, Abdussalam
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Balousha, Ghassan
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Ghanem, Zaid
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falana, mohammed
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Balousha, Osama
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Ayesh, Suhail
|
Keimer, Reinhard
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Deigendesch, Werner
|
Zaidan, Jimmy
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Marzouqa, Hiyam
|
Bauer, Peter
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Schöls, Ludger
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
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Argyriou, Loukas
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Martínez-Azorín, Francisco
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Morlot, Susanne
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Yigit, Gökhan
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Lee, Teresa
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Auber, Bernd
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von Gise, Alexander
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Petrey, Donald S.
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Thiele, Holger
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Cyganek, Lukas
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Sabater-Molina, Maria
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Ahimaz, Priyanka
|
Cabezas-Herrera, Juan
|
Sorlí García , Moises
|
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
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Wollnik, Bernd
2020
http://purl.org/ontology/bibo/Article
Cultural variation impacts paternal and maternal genetic lineages of the Hmong-Mien and Sino-Tibetan groups from Thailand
2020 .
Kutanan, Wibhu
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Shoocongdej, Rasmi
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Srikummool, Metawee
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Hübner, Alexander
|
Suttipai, Thanatip
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Srithawong, Suparat
|
Kampuansai, Jatupol
|
Stoneking, Mark
2020
http://purl.org/ontology/bibo/Article