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  5. Schmidts, Miriam [Author]; Arts, Heleen H. [Author]; Lausch, Ekkehart [Author]; Mitchison, Hannah M. [Author]

    Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

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    London: BMJ Publishing Group, 2013

    Published in: Journal of medical genetics ; 50, 5 (2013), 309-323

  6. Baranzehi, Tayebeh [Author]; Kordi-Tamandani, Dor Mohammad [Author]; Najafi, Maryam [Author]; Khajeh, Ali [Author]; Schmidts, Miriam [Author]

    Identification of a TPP1 Q278X mutation in an iranian patient with neuronal ceroid lipofuscinosis 2: literature review and mutations update

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    Basel: MDPI, 2022

    Published in: Journal of Clinical Medicine ; 11, 21 (2022), 6415

  7. Chatron, Nicolas [Author]; Becker, Felicitas [Author]; Morsy, Heba [Author]; Schmidts, Miriam [Author]; May, Patrick [Author]; Lesca, Gaetan [Author]; Weckhuysen, Sarah [Author]; Tajsharghi, Homa [Author]

    Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

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    Oxford: Oxford University Press, 2020

    Published in: Brain ; 143, 5 (2020), 1447-1461

  8. Efthymiou, Stephanie [Author]; Schmidts, Miriam [Author]; Edvardson, Simon [Author]; Nolano, Maria [Author]; Devaux, Jerome [Author]; Houlden, Henry [Author]

    Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

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    Oxford: Oxford University Press, 2019

    Published in: Brain ; 142, 10 (2019), 2948-2964

  9. Ta-Shma, Asaf [Author]; Hjeij, Rim [Author]; Antony, Dinu [Author]; Schmidts, Miriam [Author]; Omran, Heymut [Author]

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

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    San Francisco, CA: Public Library of Science, 2018

    Published in: PLoS genetics ; 14, 8 (2018), e1007602

  10. Hartleben, Björn [Author]; Widmeier, Eugen [Author]; Wanner, Nicola [Author]; Schmidts, Miriam [Author]; Walz, Gerd [Author]; Huber, Tobias [Author]

    Role of the polarity protein Scribble for podocyte differentiation and maintenance

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    Lawrence, Kan.: PLoS, 2012

    Published in: PLoS one ; 7, 5 (2012), e36705

  11. Schüle, Isabel [Author]; Berger, Urs [Author]; Matysiak, Uta [Author]; Ruzaike, Gunda [Author]; Stiller, Brigitte [Author]; Pohl, Martin [Author]; Spiekerkötter, Ute [Author]; Lausch, Ekkehart [Author]; Grünert, Sarah [Author]; Schmidts, Miriam [Author]

    A homozygous deletion of exon 5 of KYNU resulting from a maternal chromosome 2 isodisomy (UPD2) causes Catel-Manzke-Syndrome/VCRL syndrome

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    Basel: MDPI, 2021

    Published in: Genes ; 12, 6 (2021), 879

  12. Sanderson, Leslie E. [Author]; Lanko, Kristina [Author]; Alsagob, Maysoon [Author]; Almass, Rawan [Author]; Al-Ahmadi, Nada [Author]; Najafi, Maryam [Author]; Antony, Dinu [Author]; Schmidts, Miriam [Author]; Barakat, Tahsin Stefan [Author]; Ham, Tjakko J. van [Author]; Kaya, Namik [Author]

    Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

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    Oxford: Oxford Univ. Press, 2021

    Published in: Brain ; 144, 3 (2021), 769–780

  13. Grünert, Sarah [Author]; Matysiak, Uta [Author]; Hodde, Franka [Author]; Ruzaike, Gunda [Author]; Lausch, Ekkehart [Author]; Schumann, Anke [Author]; Werf-Grohmann, Natascha van der [Author]; Spiekerkötter, Ute [Author]; Schmidts, Miriam [Author]

    Isolated hypomethylation of IGF2 associated with severe hypoglycemia responsive to growth hormone treatment

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    Basel: MDPI, 2021

    Published in: Diagnostics ; 11, 5 (2021), 749

  14. Walczak-Sztulpa, Joanna [Author]; Posmyk, Renata [Author]; Bukowska-Olech, Ewelina M. [Author]; Wawrocka, Anna [Author]; Jamsheer, Aleksander [Author]; Oud, Machteld M. [Author]; Schmidts, Miriam [Author]; Arts, Heleen H. [Author]; Latos-Bielenska, Anna [Author]; Wasilewska, Anna [Author]

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

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    London: BioMed Central, 2020

    Published in: Orphanet journal of rare diseases ; 15, 1 (2020), 36

  15. Najafi, Maryam [Author]; Kordi-Tamandani, Dor Mohammad [Author]; Azarfar, Anoush [Author]; Bakey, Zeineb [Author]; Behjati, Farkhondeh [Author]; Antony, Dinu [Author]; Schüle, Isabel [Author]; Sadeghi-Bojd, Simin [Author]; Karimiani, Ehsan Ghayoor [Author]; Schmidts, Miriam [Author]

    A 57 kB genomic deletion causing CTNS loss of function contributes to the CTNS mutational spectrum in the Middle East

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    Lausanne: Frontiers Media, 2019

    Published in: Frontiers in pediatrics ; 7 (2019), 89

  16. Najafi, Maryam [Author]; Kordi-Tamandani, Dor Mohammad [Author]; Behjati, Farkhondeh [Author]; Sadeghi-Bojd, Simin [Author]; Bakey, Zeineb [Author]; Karimiani, Ehsan Ghayoor [Author]; Schüle, Isabel [Author]; Azarfar, Anoush [Author]; Schmidts, Miriam [Author]

    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

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    London: BioMed Central, 2019

    Published in: Orphanet journal of rare dise ; 14, 1 (2019), 41$z1750-1172

  17. Cheng, Yurong [Author]; Schlosser, Pascal [Author]; Hertel, Johannes [Author]; Sekula, Peggy [Author]; Oefner, Peter J. [Author]; Spiekerkötter, Ute [Author]; Mielke, Johanna [Author]; Freitag, Daniel [Author]; Schmidts, Miriam [Author]; Kronenberg, Florian [Author]; Eckardt, Kai-Uwe [Author]; Thiele, Ines [Author]; Li, Yong [Author]; Köttgen, Anna [Author]

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

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    London: Springer, 2021

    Published in: Nature communications ; 12, 1 (2021), 964

  18. Stippel, Michaela [Author]; Riedhammer, Korbinian M. [Author]; Lange-Sperandio, Bärbel [Author]; Geßner, Michaela [Author]; Braunisch, Matthias C. [Author]; Günthner, Roman [Author]; Bald, Martin [Author]; Schmidts, Miriam [Author]; Strotmann, Peter [Author]; Tasic, Velibor [Author]; Schmaderer, Christoph [Author]; Renders, Lutz [Author]; Heemann, Uwe [Author]; Höfele, Julia [Author]

    Renal and skeletal anomalies in a cohort of individuals with clinically presumed hereditary nephropathy analyzed by molecular genetic testing

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    Lausanne: Frontiers Media SA, 2021

    Published in: Frontiers in genetics ; 12 (2021), 642849

  19. Grünert, Sarah [Author]; Schumann, Anke [Author]; Freisinger, Peter [Author]; Rosenbaum-Fabian, Stefanie [Author]; Schmidts, Miriam [Author]; Müller, Amelie Johanna [Author]; Beck-Wödl, Stefanie [Author]; Haack, Tobias [Author]; Schneider, Hendryk [Author]; Fuchs, Hans [Author]; Teufel-Schäfer, Ulrike [Author]; Gramer, Gwendolyn [Author]; Hannibal, Luciana [Author]; Spiekerkötter, Ute [Author]

    Citrin deficiency mimicking mitochondrial depletion syndrome

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    London: Springer Nature, 2020

    Published in: BMC pediatrics ; 20, 1 (2020), 518

  20. Vriend, Jelle [Author]; Peters, Janny G. P. [Author]; Nieskens, Tom T. G. [Author]; Škovroňová, Renata [Author]; Blaimschein, Nina [Author]; Schmidts, Miriam [Author]; Roepman, Ronald [Author]; Schirris, Tom J. J. [Author]; Russel, Frans G. M. [Author]; Masereeuw, Rosalinde [Author]; Wilmer, Martijn J. [Author]

    Flow stimulates drug transport in a human kidney proximal tubule-on-a-chip independent of primary cilia

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    Amsterdam [u.a.]: Elsevier, 2020

    Published in: Biochimica et biophysica acta. General subjects ; 1864, 1 (2020), 129433