Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene

2011 ◽  
Vol 24 (9-10) ◽  
Author(s):  
Zhe Su ◽  
Min-Lian Du ◽  
Hong-Shan Chen ◽  
Qiu-Li Chen ◽  
Chang-Shun Yu ◽  
...  
Keyword(s):  
Novel Mutations ◽  
First Report ◽  
Slc2a2 Gene

First report of the spectrum of δ-globin gene mutations in Omani subjects - identification of novel mutations

2014 ◽  
Vol 37 (2) ◽  
pp. 238-243 ◽  
Author(s):  
S. Alkindi ◽  
S. AlZadjali ◽  
S. Daar ◽  
R. Ambusaidi ◽  
D. Gravell ◽  
...  
Keyword(s):  
Globin Gene ◽  
Gene Mutations ◽  
Novel Mutations ◽  
First Report

First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes

2014 ◽  
Vol 34 (2) ◽  
pp. 146-156 ◽  
Author(s):  
Otavio Cabral-Marques ◽  
Stefanie Klaver ◽  
Lena F Schimke ◽  
Évelyn H Ascendino ◽  
Taj Ali Khan ◽  
...  
Keyword(s):  
Latin American ◽  
Novel Mutations ◽  
First Report ◽  
Hyper Igm Syndrome ◽  
Hyper Igm ◽  
American Society ◽  
Latin American Society

Beta-propeller protein associated neurodegeneration (BPAN); the first report of three patients from Iran with de novo novel mutations

2019 ◽  
Vol 61 ◽  
pp. 231-233
Author(s):  
Mohammad Rohani ◽  
Alfonso Fasano ◽  
Fahimeh Haji Akhoundi ◽  
Ghazal Haeri ◽  
Anthony E. Lang ◽  
...  
Keyword(s):  
De Novo ◽  
Novel Mutations ◽  
First Report

scholarly journals Identification of Novel Mutations in STAR Gene in Patients with Lipoid Congenital Adrenal Hyperplasia: A First Report from India

2013 ◽  
Vol 5 (2) ◽  
pp. 121-124 ◽  
Author(s):  
Vasudevan Lakshmi ◽  
Joshi Rajesh ◽  
Kumar Das Dhanjit ◽  
Rao Sudha ◽  
Sanghavi Daksha ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Novel Mutations ◽  
First Report ◽  
Star Gene

A fossil Aspergillus from Eocene Dominican amber

1988 ◽  
Vol 62 (01) ◽  
pp. 141-143 ◽  
Author(s):  
Gerard M. Thomas ◽  
George O. Poinar
Keyword(s):  
Dominican Republic ◽  
Fossil Species ◽  
First Report ◽  
Dominican Amber ◽  
Eocene Amber

A sporulating Aspergillus is described from a piece of Eocene amber originating from the Dominican Republic. The Aspergillus most closely resembles a form of the white spored phase of Aspergillus janus Raper and Thom. This is the first report of a fossil species of Aspergillus.

1392: First Report of a New Transurethral Detaching Prostatectomy of the Prostate (TUDP)

2005 ◽  
Vol 173 (4S) ◽  
pp. 377-378
Author(s):  
Yasunori Hiraoka ◽  
Kazuhiko Yamada ◽  
Yuji Shimizu ◽  
Hiroyuki Abe
Keyword(s):  
First Report
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