Showing 1 - 5 results of 5 for search 'Thomas Meitinger', query time: 0.06s
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Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and... by Korbinian Maria Riedhammer, Korbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, Carmen Montoya, Reka Kovacs-Nagy, Matias Wagner, Matias Wagner, Matias Wagner, Thomas Meitinger, Thomas Meitinger, Julia Hoefele
Published 2017Connect to this object online.
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2
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center by Gwendolyn Gramer, Saskia B. Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G. Okun, Holger Prokisch, Thomas Meitinger, Georg F. Hoffmann
Published 2024Connect to this object online.
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3
Point mutations in the PDX1 transactivation domain impair human β-cell development and function by Xianming Wang, Michael Sterr, Ansarullah, Ingo Burtscher, Anika Böttcher, Julia Beckenbauer, Johanna Siehler, Thomas Meitinger, Hans-Ulrich Häring, Harald Staiger, Filippo M. Cernilogar, Gunnar Schotta, Martin Irmler, Johannes Beckers, Christopher V.E. Wright, Mostafa Bakhti, Heiko Lickert
Published 2019Connect to this object online.
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4
Genome-wide analysis of PDX1 target genes in human pancreatic progenitors by Xianming Wang, Michael Sterr, Ingo Burtscher, Shen Chen, Anja Hieronimus, Fausto Machicao, Harald Staiger, Hans-Ulrich Häring, Gabriele Lederer, Thomas Meitinger, Filippo M. Cernilogar, Gunnar Schotta, Martin Irmler, Johannes Beckers, Martin Hrabě de Angelis, Michael Ray, Christopher V.E. Wright, Mostafa Bakhti, Heiko Lickert
Published 2018Connect to this object online.
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5
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases by Maryam Najafi, Maryam Najafi, Korbinian M. Riedhammer, Korbinian M. Riedhammer, Aboulfazl Rad, Aboulfazl Rad, Paria Najarzadeh Torbati, Riccardo Berutti, Isabel Schüle, Sophie Schroda, Thomas Meitinger, Jasmina Ćomić, Jasmina Ćomić, Simin Sadeghi Bojd, Tayebeh Baranzehi, Azadeh Shojaei, Anoush Azarfar, Mahmood Reza Khazaei, Anna Köttgen, Anna Köttgen, Rolf Backofen, Rolf Backofen, Ehsan Ghayoor Karimiani, Ehsan Ghayoor Karimiani, Julia Hoefele, Miriam Schmidts, Miriam Schmidts, Miriam Schmidts
Published 2022Connect to this object online.
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