Lutz Garbes - University of Cologne | 人才画像

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论文共 20 篇作者统计合作学者相似作者

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Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

Shahida Moosa,Guilherme L Yamamoto,Lutz Garbes,Katharina Keupp,Ana Beleza-Meireles,Carolina Araujo Moreno,Eugenia Ribeiro Valadares,Sérgio B de Sousa,Sofia Maia,Jorge Saraiva,Rachel S Honjo,Chong Ae Kim, Hamilton Cabral de Menezes,Ekkehart Lausch, Pablo Villavicencio Lorini, Arsonval Lamounier, Tulio Canella Bezerra Carniero,Cecilia Giunta,Marianne Rohrbach,Marco Janner,Oliver Semler,Filippo Beleggia,Yun Li,Gökhan Yigit,Nadine Reintjes,Janine Altmüller,Peter Nürnberg,Denise P Cavalcanti,Bernhard Zabel,Matthew L Warman,Debora R Bertola,Bernd Wollnik,Christian Netzer

American journal of human genetics（2019）

引用35浏览0WOS引用

Neurocalcin Delta Suppression Protects Against Spinal Muscular Atrophy in Humans and Across Species by Restoring Impaired Endocytosis

Markus Riessland,Anna Kaczmarek,Svenja Schneider,Kathryn J. Swoboda,Heiko Loehr,Cathleen Bradler,Vanessa Grysko,Maria Dimitriadi, Seyyedmohsen Hosseinibarkooie,Laura Torres-Benito,Miriam Peters,Aaradhita Upadhyay,Nasim Biglari,Sandra Kroeber,Irmgard Hoelker,Lutz Garbes,Christian Gilissen,Alexander Hoischen,Gudrun Nuernberg,Peter Nuernberg, Michael Walter, Frank Rigo, C. Frank Bennett, Min Jeong Kye, Anne C. Hart, Matthias Hammerschmidt, Peter Kloppenburg, Brunhilde Wirth

American journal of human genetics（2017）

引用136浏览0WOS引用

136

Exome Sequencing Identifies Laing Distal Myopathy MYH7 Mutation in a Roma Family Previously Diagnosed with Distal Neuronopathy

Katalin Komlosi,Kinga Hadzsiev,Lutz Garbes,Lilian A. Martinez Carrera,Endre Pal, Johann Haukur Sigurosson,Olafur Magnusson,Bela Melegh,Brunhilde Wirth

NEUROMUSCULAR DISORDERS（2014）

引用19浏览0WOS引用

A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset

Heike Hoyer-Kuhn,Oliver Semler,Lutz Garbes,Katharina Zimmermann,Jutta Becker,Bernd Wollnik,Eckhard Schoenau,Christian Netzer

JOURNAL OF BONE AND MINERAL RESEARCH（2014）

引用26浏览0WOS引用

A new start-codon in IFITM5 causes osteogenesis imperfecta type V

Semler Oliver,Hoyer-Kuhn Heike,Garbes Lutz,Netzer Christian,Schoenau Eckhard

Bone Abstracts（2013）

引用0浏览0引用

The Phenotypic Spectrum of Duplication 5Q35.2-Q35.3 Encompassing Nsd1: is It Really A Reversed Sotos Syndrome

Nicola Dikow,Bianca Maas,Harald Gaspar,Martina Kreiss-Nachtsheim,Hartmut Engels,Alma Kuechler,Lutz Garbes,Christian Netzer,Teresa M. Neuhann,Udo Koehler,Kristina Casteels,Koen Devriendt,Johannes W. G. Janssen,Anna Jauch,Katrin Hinderhofer,Ute Moog

American journal of medical genetics Part A（2013）

引用37浏览0WOS引用

Genetic Modifiers Ameliorate Endocytic and Neuromuscular Defects in a Model of Spinal Muscular Atrophy

Walsh Melissa B.,Janzen Eva, Wingrove Emily, Hosseinibarkooie Seyyedmohsen,Muela Natalia Rodriguez,Davidow Lance,Dimitriadi Maria,Norabuena Erika M.,Rubin Lee L.,Wirth Brunhilde,Hart Anne C.

Neuromuscular Disorders（2017）

引用82浏览0WOS引用

RAD51C Deletion Screening Identifies a Recurrent Gross Deletion in Breast Cancer and Ovarian Cancer Families

Gioia Schnurbein,Jan Hauke, Barbara Wappenschmidt,Nana Weber‐Lassalle,Stefanie Engert,Heide Hellebrand,Lutz Garbes,Alexandra Becker,Guido Neidhardt,Kerstin Rhiem,Alfons Meindl, Rita K. Schmutzler,Eric Hahnen

Breast cancer researchno. 6 (2013)

引用0浏览0引用

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