Julia Mohr - CeGaT GmbH, Tubingen, Germany

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论文共 13 篇作者统计合作学者相似作者

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Novel Variants in the SOX11 Gene: Additional Evidence for the Involvement of SOX11 in Hypogonadotropic Hypogonadism

Tarsis Vieira, Beatriz Schincariol-Manhe, Érica Campagnolo,Samira Spineli-Silva,Nicole de Leeuw, Gabriela Correia-Costa,André Pessoa,Carolina de Souza,Cathy Stevens, Poupak Javaher, Helena Scallet,Julia Mohr,Saskia Biskup,Johanna Herkert,Rolph Pfundt,Lakshmi Mehta, Aisha Rekab, Houda Elloumi,Andréa Maciel-Guerra,Vera Lucia Gil da Silva Lopes, Ana dos Santos,May Sanyoura

openalex（2024）

引用0浏览0引用

Novel Variants in the SOX11 Gene: Clinical Description of Seven New Patients

Beatriz Schincariol-Manhe, Erica Campagnolo,Samira Spineli-Silva,Nicole de Leeuw,Gabriela Roldao Correia-Costa,Andre Pessoa, Carolina Fischinger Moura de Souza,Cathy Stevens, Poupak Javaher,Helena Fabbri Scallet,Julia Mohr,Saskia Biskup,Johanna C. Herkert,Rolph Pfundt,Lakshmi Mehta, Aisha Rekab,Houda Zghal Elloumi,May Sanyoura,Andrea Trevas Maciel-Guerra,Vera Lucia Gil-da-Silva-Lopes, Ana Mondadori dos Santos,Tarsis Paiva Vieira

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

引用0浏览0WOSNATURE引用

Clinical, Neuroradiological, and Molecular Characterization of Mitochondrial Threonyl-Trna-synthetase (Tars2)-Related Disorder

Andrea Accogli,Sheng-Jia Lin,Mariasavina Severino,Sung-Hoon Kim,Kevin Huang,Clarissa Rocca,Megan Landsverk,Maha S. Zaki,Almundher Al-Maawali,Varunvenkat M. Srinivasan,Khalid Al-Thihli, G. Bradly Schaefer, Monica Davis,Davide Tonduti,Chiara Doneda,Lara M. Marten,Chris Muehlhausen, Maria Gomez,Eleonora Lamantea,Rafael Mena,Mathilde Nizon,Vincent Procaccio,Amber Begtrup,Aida Telegra, Hong Cui,Heidi L. Schulz,Julia Mohr,Saskia Biskup,Mariana Amina Loos,Hilda Veronica Araoz,Vincenzo Salpietro,Laura Davis Keppen,Manali Chitre,Cassidy Petree,Lucy Raymond,Julie Vogt,Lindsey B. Sawyer,Alice A. Basinger,Signe Vandal Pedersen,Toni S. Pearson,Dorothy K. Grange,Lokesh Lingappa, Paige Mcdunnah,Rita Horvath,Benjamin Cogne,Bertrand Isidor,Andreas Hahn,Karen W. Gripp,Seyed Mehdi Jafarnejad,Elsebet Stergaard,Carlos E. Prada,Daniele Ghezzi,Vykuntaraju K. Gowda,Robert W. Taylor,Nahum Sonenberg,Henry Houlden,Marie Sissler,Gaurav K. Varshney,Reza Maroofian

GENETICS IN MEDICINEno. 11 (2023)

引用4浏览0WOS引用

FIG4 Mutations Leading to Parkinsonism and a Phenotypical Continuum Between CMT4J and Yunis Varón Syndrome

Milan Zimmermann,Stefanie Schuster,Sylvia Boesch,G. Christoph Korenke,Julia Mohr,Jennifer Reichbauer,Christoph Kernstock,Dieter Kotzot, Veronika Spahlinger, Rebecca Schuele-Freyer,Ludger Schoels

Parkinsonism & Related Disorders（2020）

引用16浏览0WOS引用

SOD1 Deficiency: a Novel Syndrome Distinct from Amyotrophic Lateral Sclerosis

Fijulien H. Park,Christiane Elpers,Janine Reunert,Michael L. McCormick,Julia Mohr,Saskia Biskup,Oliver Schwartz,Stephan Rust,Marianne Grueneberg,Anja Seelhoefer,Ulrike Schara,Eugen Boltshauser,Douglas R. Spitz,Thorsten Marquardt

Brain（2019）

引用71浏览0WOS引用

A Nonstop Variant in REEP1 Causes Peripheral Neuropathy by Unmasking a 3 ' UTR-encoded, Aggregation-Inducing Motif

Andrea S. Bock,Sven Guenther,Julia Mohr,Lisa V. Goldberg,Amir Jahic, Cornelia Klisch,Christian A. Huebner,Saskia Biskup,Christian Beetz

HUMAN MUTATION（2018）

引用17浏览0WOS引用

Unusual Genetic Findings In 900 Patients Clinically Diagnosed With Hereditary Retinal Dystrophies

Nicola Gloeckle,Susanne Kohl,Julia Mohr,Kathrin Bengesser,Tim Scheurenbrand,Andrea Sprecher,Konstanze Hoertnagel,Bernd Wissinger,Saskia Biskup

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE（2015）

引用23浏览0引用

Phenotype Variations of Retinal Dystrophies Caused by Mutations in the RLBP1 Gene

Stephanie Hipp,Gergely Zobor,Nicola Gloeckle,Julia Mohr,Susanne Kohl,Eberhart Zrenner,Nicole Weisschuh,Ditta Zobor

Acta Ophthalmologica（2014）

引用32浏览0WOS引用

Genetic Testing in Patients with Inherited Retinal Dystrophies Using Panel-Based Next Generation Sequencing

Nicola Gloeckle,Susanne Kohl,Julia Mohr,Tim Scheurenbrand,Andrea Sprecher,Saskia Biskup,Wolfgang Berger,Bernd Wissinger,John Neidhardt

Investigative Ophthalmology & Visual Science（2014）

引用23浏览0引用

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