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Journal Article
Kozich, Viktor ORCID: 0000-0001-5820-5277, Schwahn, Bernd C., Sokolova, Jitka, Krizkova, Michaela, Ditroi, Tamas, Krijt, Jakub
ORCID: 0000-0002-1738-654X, Khalil, Youssef
ORCID: 0000-0001-9025-3017, Krizek, Tomas, Vaculikova-Fantlova, Tereza, Stiburkova, Blanka, Mills, Philippa, Clayton, Peter, Barvikova, Kristyna, Blessing, Holger, Sykut-Cegielska, Jolanta, Dionisi-Vici, Carlo, Gasperini, Serena, Garcia-Cazorla, Angeles, Haack, Tobias B., Honzik, Tomas, Jesina, Pavel, Kuster, Alice, Laugwitz, Lucia, Martinelli, Diego, Porta, Francesco, Santer, Rene, Schwarz, Guenter and Nagy, Peter
(2022).
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis.
Redox Biol., 58.
AMSTERDAM:
ELSEVIER.
ISSN 2213-2317
Reuter, Miriam S., Zech, Michael, Hempel, Maja, Altmueller, Janine, Heung, Tracy, Poelsler, Laura, Santer, Rene, Thiele, Holger, Trost, Brett ORCID: 0000-0003-4863-7273, Kubisch, Christian
ORCID: 0000-0003-4220-0978, Scherer, Stephen W.
ORCID: 0000-0002-8326-1999, Rudnik-Schoneborn, Sabine, Bassett, Anne S. and Lessel, Davor
ORCID: 0000-0003-4496-244X
(2022).
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.
Eur. J. Hum. Genet., 30 (5).
S. 611 - 619.
LONDON:
SPRINGERNATURE.
ISSN 1476-5438