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5. Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia
作者:Hossein Esmaeilzadeh (1) (2)
Mohammad Hasan Bemanian (1)
Mohammad Nabavi (1)
Saba Arshi (1)
Morteza Fallahpour (1)
Ilka Fuchs (3)
Udo zur Stadt (4)
Klaus Warnatz (3)
Sandra Ammann (3)
Stephan Ehl (3)
Kai Lehmberg (5)
Nima Rezaei (6) (7)

1. Department of Allergy and Immunology
; Rasool e Akram Hospital ; Iran University of Medical Sciences ; Tehran ; Iran
2. Allergy Research Center
; Shiraz University of Medical Sciences ; Shiraz ; Iran
3. Centre of Chronic Immunodeficiency (CCI)
; University Medical Centre ; Freiburg ; Germany
4. Center for Diagnostic
; University Medical Center Hamburg Eppendorf ; Hamburg ; Germany
5. Department of Pediatric Hematology and Oncology
; University Medical Center Hamburg Eppendorf ; Hamburg ; Germany
6. Molecular Immunology Research Center
; and Department of Immunology ; School of Medicine ; Tehran University of Medical Sciences ; Tehran ; Iran
7. Research Center for Immunodeficiencies
; Children鈥檚 Medical Center ; Tehran University of Medical Sciences ; Tehran ; Iran
刊名:Journal of Clinical Immunology
出版年:2015
7. Dissociating pathomechanisms of depression with fMRI: bottom-up or top-down dysfunctions of the reward system
刊名:European Archives of Psychiatry and Clinical Neuroscience
出版年:2015
8. OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)
作者:Michaela Thoenes (1)
Ulrike Zimmermann (2)
Inga Ebermann (1)
Martin Ptok (3)
Morag A Lewis (4)
Holger Thiele (5)
Susanne Morlot (6)
Markus M Hess (7)
Andreas Gal (8)
Tobias Eisenberger (9)
Carsten Bergmann (10) (9)
Gudrun N眉rnberg (5)
Peter N眉rnberg (11) (5)
Karen P Steel (4)
Marlies Knipper (2)
Hanno J枚rn Bolz (1) (9)

1. Institute of Human Genetics
; University Hospital of Cologne ; Cologne ; Germany
2. Molecular Physiology of Hearing
; Hearing Research Centre T眉bingen (THRC) ; Department of Otolaryngology ; University of T眉bingen ; T眉bingen ; Germany
3. Department of Phoniatrics and Pediatric Audiology
; Hannover Medical School ; Hannover ; Germany
4. Wolfson Centre for Age-Related Diseases
; King鈥檚 College London ; London ; UK
5. Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC)
; University of Cologne ; Cologne ; Germany
6. Institute for Human Genetics
; Hannover Medical School ; Hannover ; Germany
7. Department of Voice
; Speech and Hearing Disorders ; University Medical Center Hamburg-Eppendorf ; Hamburg ; Germany
8. Department of Human Genetics
; University Medical Center Hamburg-Eppendorf ; Hamburg ; Germany
9. Center for Human Genetics
; Bioscientia ; Ingelheim ; Germany
10. Renal Division
; Department of Medicine ; University Medical Center Freiburg ; Freiburg ; Germany
11. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD)
; University of Cologne ; Cologne ; Germany
刊名:Orphanet Journal of Rare Diseases
出版年:2015
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