Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins ‌ Jessika Johannsen, Maja Hempel, Thilo Diehl, Tobias B. Haack, Jonas Denecke

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Unraveling haplotype errors in the DFNA33 locus ‌ Barbara Vona, Barbara Vona, Barbara Vona, Sabrina Regele, Aboulfazl Rad, Nicola Strenzke, Justin A. Pater, Justin A. Pater, Katrin Neumann, Marc Sturm, Tobias B. Haack, Tobias B. Haack, Antoinette G. Am Zehnhoff-Dinnesen

Ստացեք ամբողջական տեքստը

Clinical Characteristics of <i>POC1B</i>-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants ‌ Nicole Weisschuh, Pascale Mazzola, Miriam Bertrand, Tobias B. Haack, Bernd Wissinger, Susanne Kohl, Katarina Stingl

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Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process ‌ Frederik Braun, Andrea Gangfuß, Petra Stöbe, Tobias B. Haack, Bernd Schweiger, Andreas Roos, Ulrike Schara

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Long-term benefit of pallidal deep brain stimulation in a patient with VPS16-associated dystonia ‌ Jan Niklas Petry-Schmelzer, Joohyun Park, Tobias B. Haack, Veerle Visser-Vandewalle, Michael T. Barbe, Gilbert Wunderlich

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Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype ‌ Claudia S. Priglinger, Günter Rudolph, Irene Schmid, Pascale Mazzola, Tobias B. Haack, Milda Reith, Katarina Stingl, Nicole Weisschuh

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Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy ‌ Rebecca Herzog, Yorck Hellenbroich, Norbert Brüggemann, Katja Lohmann, Mona Grimmel, Tobias B. Haack, Sarah vonSpiczak, Alexander Münchau

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A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of <em>WDR45</em> ‌ Andreas Hermann, Hagen H. Kitzler, Tobias Pollack, Saskia Biskup, Stefanie Krüger, Claudia Funke, Caterina Terille, Tobias B. Haack

Ստացեք ամբողջական տեքստը

Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function ‌ Benjamin Röeben, Justus Marquetand, Benjamin Bender, Heiko Billing, Tobias B. Haack, Iciar Sanchez-Albisua, Ludger Schöls, Henk J. Blom, Matthis Synofzik

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Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa ‌ Anna Avesani, Laura Bielefeld, Nicole Weisschuh, Valerio Marino, Pascale Mazzola, Katarina Stingl, Tobias B. Haack, Karl-Wilhelm Koch, Daniele Dell’Orco

Ստացեք ամբողջական տեքստը

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families ‌ Sarah C. Grünert, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian, Stefanie Beck-Wödl, Tobias B. Haack, Mona Grimmel, Miriam Bertrand, Ute Spiekerkoetter

Ստացեք ամբողջական տեքստը

Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data ‌ German Demidov, Joohyun Park, Sorin Armeanu‐Ebinger, Cristiana Roggia, Ulrike Faust, Isabell Cordts, Maria Blandfort, Tobias B. Haack, Christopher Schroeder, Stephan Ossowski

Ստացեք ամբողջական տեքստը

Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy ‌ Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge, Katarina Stingl, Tobias B. Haack, Saskia Biskup, Susanne Kohl, Laura Kühlewein, Daniele Dell’Orco, Nicole Weisschuh

Ստացեք ամբողջական տեքստը

Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort ‌ Stefanie Beck‐Wödl, Christiane Kehrer, Klaus Harzer, Tobias B. Haack, Friederike Bürger, Dorothea Haas, Angelika Rieß, Samuel Groeschel, Ingeborg Krägeloh‐Mann, Judith Böhringer

Ստացեք ամբողջական տեքստը

Novel Variants of <i>SOX4</i> in Patients with Intellectual Disability ‌ Martin Grosse, Alma Kuechler, Tabib Dabir, Stephanie Spranger, Stefanie Beck-Wödl, Miriam Bertrand, Tobias B. Haack, Corinna Grasemann, Eva Manka, Christel Depienne, Frank J. Kaiser

Ստացեք ամբողջական տեքստը

A Novel, Apparently Silent Variant in <i>MFSD8</i> Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability ‌ Milda Reith, Lena Zeltner, Karin Schäferhoff, Dennis Witt, Theresia Zuleger, Tobias B. Haack, Antje Bornemann, Michael Alber, Susanne Ruf, Ludger Schoels, Katarina Stingl, Nicole Weisschuh

Ստացեք ամբողջական տեքստը

Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome ‌ Dennis Witt, Ulrike Faust, Gertrud Strobl‐Wildemann, Marc Sturm, Rebecca Buchert, Theresia Zuleger, Jakob Admard, Nicolas Casadei, Stephan Ossowski, Tobias B. Haack, Olaf Rieß, Christopher Schroeder

Ստացեք ամբողջական տեքստը

Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes ‌ Jan-Philipp Bodenbender, Valerio Marino, Julia Philipp, Anke Tropitzsch, Christoph Kernstock, Katarina Stingl, Melanie Kempf, Tobias B. Haack, Theresia Zuleger, Pascale Mazzola, Susanne Kohl, Nicole Weisschuh, Daniele Dell’Orco, Laura Kühlewein

Ստացեք ամբողջական տեքստը

Clinical Phenotype of <i>PDE6B</i>-Associated Retinitis Pigmentosa ‌ Laura Kuehlewein, Ditta Zobor, Katarina Stingl, Melanie Kempf, Fadi Nasser, Antje Bernd, Saskia Biskup, Frans P.M. Cremers, Muhammad Imran Khan, Pascale Mazzola, Karin Schäferhoff, Tilman Heinrich, Tobias B. Haack, Bernd Wissinger, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl

Ստացեք ամբողջական տեքստը

Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q ‌ Chiara Diquigiovanni, Nicola Rizzardi, Antje Kampmeier, Irene Liparulo, Francesca Bianco, Bianca De Nicolo, Erica Cataldi-Stagetti, Elisabetta Cuna, Giulia Severi, Marco Seri, Miriam Bertrand, Tobias B. Haack, Adela Della Marina, Frederik Braun, Romana Fato, Alma Kuechler, Christian Bergamini, Elena Bonora

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