Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation von Schnause, Anna Clara, Komlosi, Katalin, Herr, Barbara, Neesen, Jürgen, Dremsek, Paul, Schwarz, Thomas, Tzschach, Andreas, Jägle, Sabine, Lausch, Ekkehart, Fischer, Judith, Gläser, Birgitta

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Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis von Komlosi, Katalin, Claris, Olivier, Collardeau-Frachon, Sophie, Kopp, Julia, Hausser, Ingrid, Mazereeuw-Hautier, Juliette, Jonca, Nathalie, Zimmer, Andreas D, Sanlaville, Damien, Fischer, Judith

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Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders von Komlosi, Katalin, Diederich, Stefan, Fend-Guella, Desiree Lucia, Bartsch, Oliver, Winter, Jennifer, Zechner, Ulrich, Beck, Michael, Meyer, Peter, Schweiger, Susann

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Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene von Szabó, András, Czakó, Márta, Hadzsiev, Kinga, Duga, Balázs, Bánfai, Zsolt, Komlósi, Katalin, Melegh, Béla

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New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome T... von Endres, Dominique, Süß, Patrick, Maier, Simon J, Friedel, Evelyn, Nickel, Kathrin, Ziegler, Christiane, Fiebich, Bernd L, Glocker, Franz X, Stock, Friedrich, Egger, Karl, Lange, Thomas, Dacko, Michael, Venhoff, Nils, Erny, Daniel, Doostkam, Soroush, Komlosi, Katalin, Domschke, Katharina, Tebartz van Elst, Ludger

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Differences in Circulating Carnitine Status of Preterm Infants Fed Fortified Human Milk or Preterm Infant Formula von Bene, Judit, Komlósi, Katalin, Melegh, Bela I., Decsi, Tamás, Koletzko, Berthold, Sauerwald, Ulrike

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Neonatal presentation of COG6‐CDG with prominent skin phenotype von Komlosi, Katalin, Gläser, Selina, Kopp, Julia, Hotz, Alrun, Alter, Svenja, Zimmer, Andreas D., Beger, Carmela, Heinzel, Stefan, Schmidt, Christoph, Fischer, Judith

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Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations von Hadzsiev, Kinga, Polgar, Noemi, Bene, Judit, Komlosi, Katalin, Karteszi, Judit, Hollody, Katalin, Kosztolanyi, Gyorgy, Renieri, Alessandra, Melegh, Bela

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Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy von Komlósi, Katalin, Hadzsiev, Kinga, Garbes, Lutz, Martínez Carrera, Lilian A, Pál, Endre, Sigurðsson, Jóhann Haukur, Magnusson, Olafur, Melegh, Béla, Wirth, Brunhilde

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The Role of Next-Generation Sequencing in the Diagnosis of Lysosomal Storage Disorders von Komlosi, Katalin, Sólyom, Alexander, Beck, Michael

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Infantile hemangiomas and retinopathy of prematurity: clues to the regulation of vasculogenesis von Hyland, Rachael M., Komlósi, Katalin, Alleman, Brandon W., Tolnai, Marina, Wood, Laura M., Bell, Edward F., Ertl, Tibor

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Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome von Komlósi, Katalin, Duga, Balázs, Hadzsiev, Kinga, Czakó, Márta, Kosztolányi, György, Fogarasi, András, Melegh, Béla

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Syndromic ichthyoses von Fischer, Judith, Hotz, Alrun, Komlosi, Katalin

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Editorial: Copy Number Variation in Rare Disorders von Komlósi, Katalin, Gyenesei, Attila, Bene, Judit

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Determination of carnitine ester patterns during the second half of pregnancy, at delivery, and in neonatal cord blood by tandem mass spectrometry : Complex and dynamic involvement... von TALIAN, Gabor C, KOMLOSI, Katalin, DECSI, Tamas, KOLETZKO, Berthold, MELEGH, Bela

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The Clinical and Molecular Spectrum of GM1 Gangliosidosis von Arash-Kaps, Laila, Komlosi, Katalin, Seegräber, Marlene, Diederich, Stefan, Paschke, Eduard, Amraoui, Yasmina, Beblo, Skadi, Dieckmann, Andrea, Smitka, Martin, Hennermann, Julia B.

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Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1 von Komlosi, Katalin, Glocker, Cristina, Hsu-Rehder, Hao-Hsiang, Alter, Svenja, Kopp, Julia, Hotz, Alrun, Zimmer, Andreas David, Hausser, Ingrid, Sandhoff, Roger, Oji, Vinzenz, Fischer, Judith

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Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report von Bánfai, Zsolt, Hadzsiev, Kinga, Pál, Endre, Komlósi, Katalin, Melegh, Márton, Balikó, László, Melegh, Béla

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Apolipoprotein A5 gene promoter region T-1131C polymorphism associates with elevated circulating triglyceride levels and confers susceptibility for development of ischemic stroke von Havasi, Viktória, Szolnoki, Zoltán, Talián, Gábor, Bene, Judit, Komlósi, Katalin, Maász, Anita, Somogyvári, Ferenc, Kondacs, András, Szabó, Mihály, Fodor, Lajos, Bodor, Anita, Melegh, Béla

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Correction to: Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report von Bánfai, Zsolt, Hadzsiev, Kinga, Pál, Endre, Komlósi, Katalin, Melegh, Márton, Balikó, László, Melegh, Béla

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