Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome
Szumutku, Fanni; Lengyel, Anna; Pinti, Eva; Kun, Ilona; Nemeth, Krisztina; Abonyi, Tunde; Gal, Fanni; Ryu, Seung Woo; Song, Yongjun; Ujfalusi, Aniko; Kadar, Krisztina; Javorszky, Eszter; Tory, Kalman; Kis, Eva; Goda, Vera; Krivan, Gergely; Kovacs, Arpad Ferenc; Haltrich, Iren
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Save Protein-truncating variants in APBA1 in minors with severe, early-onset obesity: implications for genetic testing
Lerner, Joanna; Moawia, Abubakar; Zorn, Stefanie; Kloker, Simone; Klehr-Martinelli, Margit; Winner, Kay; Penfold, Denisa; Volkl, Thomas M. K.; Krausnick, Miriam; Siebert, Reiner; Wabitsch, Martin
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Save Efficacy of azacitidine and trametinib against leptomeningeal melanosis associated with congenital melanocytic nevus syndrome
Raljevic, Lina; Komlosi, Katalin; Feige, Ursula; Eckenweiler, Matthias; Lassmann, Silke; Jrad, Haroun Bel Hadj; Werner, Martin; Fischer, Judith; Has, Cristina; Feuchtinger, Tobias; Uhl, Markus; Niemeyer, Charlotte M.; Hettmer, Simone
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Save Phenotypic variability in female individuals with the NAA10 missense variants p.(L126R), p.(L126V), or p.(F128L) leading to NAA10-related syndrome
Buhler, Anja; Aigner-Radakovics, Katharina; Diofano, Federica; Marchi, Elaine; Weinmann-Emhardt, Karolina; Paquay, Amina; Lilja, Stephanie V.; Rosensteiner, Bernhard; Harpell, Randie; Bernard, Ewelina; Just, Steffen; Bittner, Reginald E.; Lyon, Gholson J.; Kustermann, Monika
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Save Retrospective screening for congenital cytomegalovirus infection in the Survey of Neonates in Pomerania shows very low disease burden
Baier, Jan; Konrad, Chiara; Groffmann, Maximilian; Ittermann, Till; Allenberg, Heike; Asmus, Maria; Ihler, Friedrich; Busch, Chia-Jung; Lehmann, Kathrin; Becker, Karsten; Lange, Anja; Heckmann, Matthias
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Save Sepsis profile among preterm infants with enterostomy and fecal transfer: a multicenter retrospective cohort study
Al-Kudsi, Zeina; Wieg, Christian; Fortmann, Mats Ingmar; Faust, Kirstin; Herting, Egbert; Linnemann, Knud; Weller, Ursula; Potratz, Jenny; Gopel, Wolfgang; Humberg, Alexander
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Save Risk factors and outcomes of delayed completion of the hexavalent 3+1 immunisation series in German preterm infants - an observational study
Kraft, Hannah; Dammann, Marie-Theres; Hanke, Kathrin; Zemlin, Michael; Wenglein, Janina Soler; Rohde, Jule; Lasserre, Desiree; Humberg, Alexander; Roll, Claudia; Hartel, Christoph; Rupp, Jan; Brinkmann, Folke; Pirr, Sabine; Jensen, Reinhard; Odendahl, Rainer; Ahrens, Peter; Silwedel, Christine; Liese, Johannes; Gopel, Wolfgang; Herting, Egbert; Stichtenoth, Guido; Fortmann, Ingmar
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Save Next-generation sequencing of cell-free microbial DNA in blood samples of critically ill children: a single-center experience
Adolph, Jonas E.; Pentek, Christina; Bauch, Thomas; Held, Clara; Brenner, Thorsten; Felderhoff-Muser, Ursula; Grumaz, Silke; Horvatek, Petra; Steindor, Mathis; Asar, Lucia; Voigt, Sebastian; Dziobaka, Jan; Dohna-Schwake, Christian; Goretzki, Sarah C.
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