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Silvaieh, Sara;König, Theresa;Wurm, Raphael;Parvizi, Tandis;Berger-Sieczkowski, Evelyn;Goeschl, Stella;Hotzy, Christoph;Wagner, Matias;Berutti, Riccardo;Sammler, Esther;Stögmann, Elisabeth;Zimprich, Alexander
Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.
Hum Genomics
2023
17
1

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Deltas, Constantinos;Papagregoriou, Gregory;Louka, Stavroula F;Malatras, Apostolos;Flinter, Frances;Gale, Daniel P;Gear, Susie;Gross, Oliver;Hoefele, Julia;Lennon, Rachel;Miner, Jeffrey H;Renieri, Alessandra;Savige, Judy;Turner, A Neil
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
Genes (Basel)
2023
14
9

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Smirnov, Dmitrii;Konstantinovskiy, Nikita;Prokisch, Holger
Integrative omics approaches to advance rare disease diagnostics.
J Inherit Metab Dis
2023
46
5
824-838

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Riedhammer, Korbinian;Thanh-Minh Nguyen, TM;Kosukcu, Can;Calzada-Wack, Julia;Li, Yong;Saygili, Seha;Kim, Gwang-Jin;Caliskan, Salim;Koettgen, Anna;Arnold, Sebastian;Ozaltin, Fatih;Schmidts, Miriam;Hoefele, Julia
FOXD2 DYSFUNCTION IS IMPLICATED IN SYNDROMIC CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT (CAKUT)
Pediatr Nephrol
2023
38 Suppl 2
S128-S129

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Mollereau, Bertrand;Hayflick, Susan J;Escalante, Ricardo;Mauthe, Mario;Papandreou, Apostolos;Iuso, Arcangela;Celle, Marion;Aniorte, Sahra;Issa, Abdul Raouf;Lasserre, Jean Paul;Lesca, Gaetan;Thobois, Stéphane;Burger, Pauline;Walter, Ludivine
A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?
Autophagy
2023
19
12
3234-3239

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de Sainte Agathe, Jean-Madeleine;Pode-Shakked, Ben;Naudion, Sophie;Michaud, Vincent;Arveiler, Benoit;Fergelot, Patricia;Delmas, Jean;Keren, Boris;Poirsier, Céline;Alkuraya, Fowzan S;Tabarki, Brahim;Bend, Eric;Davis, Kellie;Bebin, Martina;Thompson, Michelle L;Bryant, Emily M;Wagner, Matias;Hannibal, Iris;Lenberg, Jerica;Krenn, Martin;Wigby, Kristen M;Friedman, Jennifer R;Iascone, Maria;Cereda, Anna;Miao, Térence;LeGuern, Eric;Argilli, Emanuela;Sherr, Elliott;Caluseriu, Oana;Tidwell, Timothy;Bayrak-Toydemir, Pinar;Hagedorn, Caroline;Brugger, Melanie;Vill, Katharina;Morneau-Jacob, Francois-Dominique;Chung, Wendy;Weaver, Kathryn N;Owens, Joshua W;Husami, Ammar;Chaudhari, Bimal P;Stone, Brandon S;Burns, Katie;Li, Rachel;de Lange, Iris M;Biehler, Margaux;Ginglinger, Emmanuelle;Gérard, Bénédicte;Stottmann, Rolf W;Trimouille, Aurélien
ARF1-related disorder: phenotypic and molecular spectrum.
J Med Genet
2023
60
10
999-1005

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Weiss, Katharina J;Berger, Ursula;Haider, Maliha;Wagner, Matias;Märtner, E M Charlotte;Regenauer-Vandewiele, Stephanie;Lotz-Havla, Amelie;Schuhmann, Elfriede;Röschinger, Wulf;Maier, Esther M
Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
Clin Genet
2023
103
6
644-654

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Brugger, Melanie;Zhen, Yan;Caporali, Leonardo;Brech, Andreas;Sorensen, Vigdis;Kopajtich, Robert;Zott, Benedikt;Kreiser, Kornelia;Strobl-Wildemann, Gertrud;Radio, Francesca Clementina;Lauri, Antonella;Carrozzo, Rosalba;Fiorini, Claudio;La Morgia, Chiara;Ziccardi, Lucia;Cordeddu, Viviana;Zampino, Giuseppe;Arelin, Maria;Blechschmidt, Christiane;Prokisch, Holger;Michaelson-Cohen, Rachel;Daum, Hagit;Abou Jamra, Rami;Arzberger, Thomas;Winkelmann, Juliane;Sekulic, Nikolina;Carelli, Valerio;Tartaglia, Marco;Stenmark, Harald;Wagner, Matias
Biallelic variants in the ESCRT-II subunit SNF8 cause either early-onset lethal leukoencephalopathy or childhood onset optic atrophy
Eur J Hum Genet
2023
31 Suppl 1
499-499

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Comic, Jasmina;Riedhammer, Korbinian M.;Vill, Katharina;Abazi-Emini, Nora;Seitz, Barbara;Braunisch, Matthias C.;Brugger, Mela-Nie;Tasic, Velibor;Reutter, Heiko;Hoefele, Julia
Exome sequencing in a large cohort of individuals with VATER/VACTERL association for identification of disease-causing variants in disease-associated genes and prioritization of candidate genes
Pediatr Nephrol
2023
38
7
2287-2288

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Xiol, Clara;Pascual-Alonso, Ainhoa;Smirnov, Dmitrii;Kopajtich, Robert;Ludwig, Christina;Prokisch, Holger;Armstrong, Judith
Identification of molecular signatures and pathways involved in Rett syndrome-spectrum disorders using a multi-omics approach
Eur J Hum Genet
2023
31 Suppl 1
496-496