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Entries: 1-5  
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11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features.
Authors: Kariminejad, Ariana; Kariminejad, Roxana; Tzschach, Andreas; Najafi, Hamid; Ahmed, Alischo; Ullmann, Reinhard; Ropers, Hans-Hilger; Kariminejad, Mohamad Hasan
Date of Publication (YYYY-MM-DD): 2010-08-26
Title of Journal: American Journal of Medical Genetics. Part A.
Volume: 152A
Issue / Number: 10
Start Page: 2651
End Page: 2655
Document Type: Article
ID: 533107.0
 
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Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
Authors: Kahrizi, Kimia; Hu, Cougar Hao; Garshasbi, Masoud; Abedini, Seyedeh Sedigheh; Ghadami, Shirin; Kariminejad, Roxana; Ullmann, Reinhard; Chen, Wei; Ropers, Hans-Hilger; Kuss, Andreas W.; Najmabadi, Hossein; Tzschach, Andreas
Date of Publication (YYYY-MM-DD): 2010-08-11
Title of Journal: European Journal of Human Genetics
Volume: 19
Start Page: 115
End Page: 117
Document Type: Article
ID: 533103.0
 
Full text / Content available
Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis
Authors: Kariminejad, Ariana; Kariminejad, Roxana; Tzschach, Andreas; Ullmann, Reinhard; Ahmed, Alisho; Asghari-Roodsari, Alaleh; Salehpour, Shadab; Afroozan, Fariba; Ropers, Hans-Hilger; Kariminejad, Mohammad Hasan
Date of Publication (YYYY-MM-DD): 2009-07
Title of Journal: American Journal of Medical Genetics Part A
Volume: 149
Issue / Number: 7
Start Page: 1544
End Page: 1549
Document Type: Article
ID: 472586.0
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4
Authors: Kahrizi, Kimia; Najmabadi, Hossein; Kariminejad, Roxana; Jamali, Payman; Malekpour, Mahdi; Garshasbi, Masoud; Ropers, Hans-Hilger; Kuss, Andreas Walter; Tzschach, Andreas
Date of Publication (YYYY-MM-DD): 2009-01
Title of Journal: European Journal of Human Genetics
Volume: 17
Issue / Number: 1
Start Page: 125
End Page: 128
Document Type: Article
ID: 472564.0
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation
Authors: Garshasbi, Masoud; Hadavi, Valeh; Habibi, Haleh; Kahrizi, Kimia; Kariminejad, Roxana; Behjati, Farkhondeh; Tzschach, Andreas; Najmabadi, Hossein; Ropers, Hans-Hilger; Kuss, Andreas Walter
Date of Publication (YYYY-MM-DD): 2008-05-01
Title of Journal: The American Journal of Human Genetics
Volume: 82
Issue / Number: 5
Start Page: 1158
End Page: 1164
Document Type: Article
ID: 408332.0
Entries: 1-5  
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