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Juliane Najm

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder
2008 · Hyung-Goo Kim, Shotaro Kishikawa, et al. · The American Journal of Human Genetics · 579
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Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
2008 · Juliane Najm, Denise Horn, et al. · Nature Genetics · 282
Refining the phenotype of α‐1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly
2008 · DJ Morris‐Rosendahl, J Najm, et al. · Clinical Genetics · 92
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors
2014 · Stefanie Spiegler, Juliane Najm, et al. · Molecular Genetics & Genomic Medicine · 71
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The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module
2012 · Vanessa A. van Rahden, Kristina Brand, et al. · Human Molecular Genetics · 43
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Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease
2017 · Matthias Rath, G. Christoph Korenke, et al. · Journal of the Neurological Sciences · 32
MYH9 Related Platelet Disorders - Often Unknown and Misdiagnosed
2011 · K. Althaus, J. Najm, et al. · Klinische Pädiatrie · 22
A patient with Fechtner syndrome successfully treated with romiplostim
2012 · Karin Althaus, Juliane Najm, et al. · Thrombosis and Haemostasis · 16
Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies
2015 · M. Rath, J. Najm, et al. · Hämostaseologie · 10
Congenital macrothrombocytopenia associated with a combination of functional polymorphisms in the TUBB1 gene
2015 · T. Bakchoul, J. Najm, et al. · Hämostaseologie · 8
Predictive genetic testing of at-risk relatives requires analysis of all CCM genes after identification of an unclassified CCM1 variant in an individual affected with cerebral cavernous malformations
2013 · Winnie Schröder, Juliane Najm, et al. · Neurosurgical Review · 8
Erratum: Corrigendum: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
2008 · Juliane Najm, Denise Horn, et al. · Nature Genetics · 7
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Thrombin generation in two families with MYH9-related platelet disorder
2015 · Eva Zetterberg, Margareta S. Carlsson Alle, et al. · Platelets · 5
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Severe FX deficiency caused by a previously unidentified 4‐bp deletion compound heterozygous with a large deletion involving FVII and FX genes
2011 · C. W. TAN, J. NAJM, et al. · Haemophilia · 5
Milde Blutungsneigung bei einer 62-Jährigen mit hereditärer Thrombozytopenie
2013 · R. Ventz, M. Hundemer, et al. · Der Internist · 4
Thrombin Generation in Two Families with Myh-9-Related Platelet Disorder
2014 · Eva Zetterberg, Margareta S Carlsson Alle, et al. · Blood · 3
Diagnostic Single Gene Analyses Beyond Sanger
2017 · Juliane Najm, Matthias Rath, et al. · Hämostaseologie · 2
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Diagnostische Einzelgenanalysen jenseits von Sanger – ökonomische Hochdurchsatzsequenzierung kleiner Gene für hereditäre Gerinnungs- und Thrombozytenstörungen
2017 · Juliane Najm, Martin F. Rath, et al. · Hämostaseologie · 1
Mukoviszidose
2016 · Matthias Rath, Juliane Najm, et al. · Medizinische Genetik
Große Deletionen spielen eine zahlenmäßig untergeordnete aber im Einzelfall wesentliche Rolle beim hereditären Faktor-VII- und -X-Mangel
2015 · Matthias Rath, Juliane Najm, et al. · Hämostaseologie
Untersuchungen zum Einfluss des bei Patienten mit Lowe-Syndrom mutierten humanen OCRL-Proteins auf endozytotische Prozesse in eukaryotischen Zellen
2009 · Juliane Najm
Works count: 22
Citation count: 1,190
H-index: 9
I10-index: 9
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