Kaiser Frank J - Center for Rare Disease/Zentrum für Seltene Erkrankungen (EZSE), University Hospital Essen

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Papers共 186 篇Author StatisticsCo-AuthorSimilar Experts

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Advancing molecular, phenotypic and mechanistic insights of FGF14 pathogenic expansions (SCA27B)

Lars Mohren,Friedrich Erdlenbruch,Elsa Leitão, Fabian Kilpert, G. Sebastian Hönes,Sabine Kaya,Christopher Schröder,Andreas Thieme,Marc Sturm,Joohyun Park,Agatha Schlüter,Montserrat Ruiz,

medrxiv（2024）

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Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome

Celine Chiu, Alma Küchler, Christel Depienne,Corinna Preuße, Adela Della Marina, Andre Reis,Frank J. Kaiser, Kay Nolte, Andreas Hentschel, Ulrike Schara-Schmidt, Heike Kölbel,Andreas Roos

Skeletal Muscleno. 1 (2024): 1-12

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Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome

Laura Trujillano,Ariadna Ayerza-Casas,Beatriz Puisac,Ana Latorre-Pellicer,Maria Arnedo,Cristina Lucia-Campos,Marta Gil-Salvador,Ilaria Parenti,Frank J. Kaiser,Feliciano J. Ramos,Javier Trujillano,Juan Pie

CUREUS JOURNAL OF MEDICAL SCIENCEno. 4 (2024): e57378-e57378

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Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases

Holm Graessner,Carola Reinhard,Tobias Bäumer, Annette Baumgärtner,Knut Brockmann,Norbert Brüggemann,Eva Bültmann,Jeanette Erdmann, Kirstin Heise, Günter Höglinger,Irina Hüning,Frank J. Kaiser,

Orphanet Journal of Rare Diseasesno. 1 (2024): 1-9

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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

Sadegheh Haghshenas, Hidde J. Bout, Josephine M. Schijns,Michael A. Levy,Jennifer Kerkhof,Pratibha Bhai,Haley McConkey,Zandra A. Jenkins, Ella M. Williams,Benjamin J. Halliday,Sylvia A. Huisman,Peter Lauffer,

Human Genetics and Genomics Advancesno. 3 (2024): 100287-100287

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RNA guanine-quadruplexes as novel regulators of translation and alternative splicing of tr alpha isoforms

Girththana Jayethevan, Nina Harting, Christine Beuck,Dagmar Fuhrer-Sakel, Moller Lars Christian,Frank J. Kaiser, Hones G. Sebastian

Endocrine Abstracts (2023)

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Systematic analysis and prediction of genes associated with disorders on chromosome X

Elsa Leitao,Christopher Schroeder,Ilaria Parenti,Carine Dalle,Agnes Rastetter, Theresa Kuehnel,Alma Kuechler,Sabine Kaya,Benedicte Gerard,Elise Schaefer,Caroline Nava,Nathalie Drouot,

medRxiv (2023): 52-53

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Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset

Joanne Trinh,Theresa Luth,Susen Schaake,Bjorn-Hergen Laabs,Kathleen Schlueter,Joshua Lass,Jelena Pozojevic,Ronnie Tse,Inke Koenig,Roland Dominic Jamora,Raymond L. Rosales,Norbert Brueggemann,

BRAIN（2023）

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Cardiac recovery from pressure overload is not altered by thyroid hormone status in old mice

Helena Kerp,Janina Gassen, Susanne Camilla Grund,Georg Sebastian Hönes, Stefanie Dörr,Jens Mittag, Nina Härting,Frank Kaiser,Lars Christian Moeller,Kristina Lorenz,Dagmar Führer

Frontiers in Endocrinology (2023): 1339741-1339741

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Novel Variants of SOX4 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

Int J Mol Sci（2023）

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