Editorial: Genetic Kidney Diseases of Childhood

by Miriam Schmidts, Miriam Schmidts, Max C. Liebau, Max C. Liebau, Max C. Liebau
Published 2018-12-01

Ciliary Dyneins and Dynein Related Ciliopathies

by Dinu Antony, Han G. Brunner, Miriam Schmidts
Published 2021-07-01

Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene

by Sarah Catharina Grünert, Miriam Schmidts, Joachim Pohlenz, Matthias Volkmar Kopp, Markus Uhl, Karl Otfried Schwab
Published 2011-01-01

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

by Maryam Najafi, Maryam Najafi, Dor Mohammad Kordi Tamandani, Anoush Azarfar, Zeineb Bakey, Zeineb Bakey, Farkhondeh Behjati, Dinu Antony, Dinu Antony, Isabel Schüle, Simin Sadeghi-Bojd, Ehsan Ghayoor Karimiani, Ehsan Ghayoor Karimiani, Miriam Schmidts, Miriam Schmidts
Published 2019-03-01

Development of an automated imaging pipeline for the analysis of the zebrafish larval kidney.

by Jens H Westhoff, Stefan Giselbrecht, Miriam Schmidts, Sebastian Schindler, Philip L Beales, Burkhard Tönshoff, Urban Liebel, Jochen Gehrig
Published 2013-01-01

A Homozygous Deletion of Exon 5 of <i>KYNU</i> Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome

by Isabel Schüle, Urs Berger, Uta Matysiak, Gunda Ruzaike, Brigitte Stiller, Martin Pohl, Ute Spiekerkoetter, Ekkehart Lausch, Sarah C. Grünert, Miriam Schmidts
Published 2021-06-01

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

by Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar, Miriam Schmidts
Published 2019-02-01

Isolated Hypomethylation of <i>IGF2</i> Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment

by Sarah C. Grünert, Uta Matysiak, Franka Hodde, Gunda Ruzaike, Ekkehart Lausch, Anke Schumann, Natascha van der Werf-Grohmann, Ute Spiekerkoetter, Miriam Schmidts
Published 2021-04-01

Correction: Role of the Polarity Protein Scribble for Podocyte Differentiation and Maintenance

by Björn Hartleben, Eugen Widmeier, Nicola Wanner, Miriam Schmidts, Sung Tae Kim, Lisa Schneider, Britta Mayer, Dontscho Kerjaschki, Jeffrey H. Miner, Gerd Walz, Tobias B. Huber
Published 2014-01-01

Role of the polarity protein Scribble for podocyte differentiation and maintenance.

by Björn Hartleben, Eugen Widmeier, Nicola Wanner, Miriam Schmidts, Sung Tae Kim, Lisa Schneider, Britta Mayer, Dontscho Kerjaschki, Jeffrey H Miner, Gerd Walz, Tobias B Huber
Published 2012-01-01

Correction: Role of the Polarity Protein Scribble for Podocyte Differentiation and Maintenance.

by Björn Hartleben, Eugen Widmeier, Nicola Wanner, Miriam Schmidts, Sung Tae Kim, Lisa Schneider, Britta Mayer, Dontscho Kerjaschki, Jeffrey H. Miner, Gerd Walz, Tobias B. Huber
Published 2014-01-01

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

by Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M. Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska, Anna Wasilewska
Published 2020-02-01

Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

by Yurong Cheng, Pascal Schlosser, Johannes Hertel, Peggy Sekula, Peter J. Oefner, Ute Spiekerkoetter, Johanna Mielke, Daniel F. Freitag, Miriam Schmidts, GCKD Investigators, Florian Kronenberg, Kai-Uwe Eckardt, Ines Thiele, Yong Li, Anna Köttgen
Published 2021-02-01

Author Correction: Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

by Yurong Cheng, Pascal Schlosser, Johannes Hertel, Peggy Sekula, Peter J. Oefner, Ute Spiekerkoetter, Johanna Mielke, Daniel F. Freitag, Miriam Schmidts, GCKD Investigators, Florian Kronenberg, Kai-Uwe Eckardt, Ines Thiele, Yong Li, Anna Köttgen
Published 2021-10-01

Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing

by Michaela Stippel, Korbinian M. Riedhammer, Korbinian M. Riedhammer, Bärbel Lange-Sperandio, Michaela Geßner, Matthias C. Braunisch, Matthias C. Braunisch, Roman Günthner, Roman Günthner, Martin Bald, Miriam Schmidts, Peter Strotmann, Velibor Tasic, Christoph Schmaderer, Lutz Renders, Uwe Heemann, Julia Hoefele
Published 2021-05-01

Expanding the clinical phenotype of IARS2-related mitochondrial disease

by Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Ahmad Alahmad, Langping He, Najmeh Ahangari, Abolfazl Rad, Sima Shahrokhzadeh, Paulina Bahena, Falk Mittag, Frank Traub, Jebrail Movaffagh, Nafise Amiri, Mohammad Doosti, Reza Boostani, Ebrahim Shirzadeh, Thomas Haaf, Daria Diodato, Miriam Schmidts, Robert W. Taylor, Ehsan Ghayoor Karimiani
Published 2018-11-01

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.

by Christine P Diggle, Daniel J Moore, Girish Mali, Petra zur Lage, Aouatef Ait-Lounis, Miriam Schmidts, Amelia Shoemark, Amaya Garcia Munoz, Mihail R Halachev, Philippe Gautier, Patricia L Yeyati, David T Bonthron, Ian M Carr, Bruce Hayward, Alexander F Markham, Jilly E Hope, Alex von Kriegsheim, Hannah M Mitchison, Ian J Jackson, Bénédicte Durand, Walter Reith, Eamonn Sheridan, Andrew P Jarman, Pleasantine Mill
Published 2014-09-01

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.

by Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W Dougherty, Ibrahim Abu Zahira, Stef J F Letteboer, Dinu Antony, Alaa Darwish, Dorus A Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T Loges, Oded Breuer, Avraham Shaag, Azaria J J T Rein, Elif Yilmaz Gulec, Alper Gezdirici, Revital Abitbul, Nael Elias, Israel Amirav, Miriam Schmidts, Ronald Roepman, Orly Elpeleg, Heymut Omran
Published 2018-08-01

Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

by Miriam Schmidts, Yuqing Hou, Claudio R. Cortés, Dorus A. Mans, Celine Huber, Karsten Boldt, Mitali Patel, Jeroen van Reeuwijk, Jean-Marc Plaza, Sylvia E. C. van Beersum, Zhi Min Yap, Stef J. F. Letteboer, S. Paige Taylor, Warren Herridge, Colin A. Johnson, Peter J. Scambler, Marius Ueffing, Hulya Kayserili, Deborah Krakow, Stephen M. King, UK10K, Philip L. Beales, Lihadh Al-Gazali, Carol Wicking, Valerie Cormier-Daire, Ronald Roepman, Hannah M. Mitchison, George B. Witman
Published 2016-03-01

CiliaCarta: An integrated and validated compendium of ciliary genes.

by Teunis J P van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A Wunderlich, Suzanne Rix, Gerard W Dougherty, Nils J Lambacher, Chunmei Li, Victor L Jensen, Michel R Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan F Scheel, Brunella Franco, Dorus A Mans, Erwin van Wijk, François Képès, Gisela G Slaats, Grischa Toedt, Hannie Kremer, Heymut Omran, Katarzyna Szymanska, Konstantinos Koutroumpas, Marius Ueffing, Thanh-Minh T Nguyen, Stef J F Letteboer, Machteld M Oud, Sylvia E C van Beersum, Miriam Schmidts, Philip L Beales, Qianhao Lu, Rachel H Giles, Radek Szklarczyk, Robert B Russell, Robert B Russell, Toby J Gibson, Colin A Johnson, Oliver E Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Victor Hernandez-Hernandez, Martijn A Huynen
Published 2019-01-01