scholarly journals Genetic Finding

2020 ◽  
Author(s):  
Keyword(s):  
Genetic Finding

Genetic finding and functional characterization of cytochrome P450 4F11 genetic polymorphisms in a Korean population

2017 ◽  
Vol 32 (1) ◽  
pp. S87-S88
Author(s):  
Myeongjin Yi ◽  
Sung Eun Yoo ◽  
Sun-Ah Cho ◽  
Dong-Hyun Kim ◽  
Jae-Gook Shin ◽  
...  
Keyword(s):  
Cytochrome P450 ◽  
Genetic Polymorphisms ◽  
Functional Characterization ◽  
Korean Population ◽  
Genetic Finding

Long-Term Clinical Follow Up and Molecular Genetic Finding in 8 Patients with Triple A Syndrome.

2010 ◽  
pp. P1-638-P1-638
Author(s):  
Miroslav Dumic ◽  
Nina Barisic ◽  
Vesna Kusec ◽  
Biserka Stanjkler ◽  
Katrin Koehler ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Triple A Syndrome ◽  
Genetic Finding

G.P.4.03 Clinical, electrophysiological and genetic finding in three patients with CMT4A

2009 ◽  
Vol 19 (8-9) ◽  
pp. 565-566
Author(s):  
C. Ortez ◽  
A. Nascimento ◽  
S. Kapetanovic ◽  
A. Gutierrez ◽  
F. Palau ◽  
...  
Keyword(s):  
Genetic Finding

scholarly journals Complete uniparental disomy of chromosome 1

2021 ◽  
Author(s):  
Violet Wallerstein ◽  
Leon Grant ◽  
Robert Wallerstein
Keyword(s):  
Developmental Delay ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Genetic Finding

Complete uniparental disomy of chromosome 1 (UPD1) is an uncommon genetic finding about which a specific phenotype has not yet been established. We present a boy who has complete paternal UPD1 and isolated developmental delay. We suggest that there is no clear phenotype of UPD1.

Large Cell Lung Carcinoma with Unusual Imaging Feature, Immunophenotype and Genetic Finding

2010 ◽  
Vol 17 (1) ◽  
pp. 175-179 ◽  
Author(s):  
Jelena Stojsic ◽  
Ruza Stevic ◽  
Milica Kontic ◽  
Zorica Stojsic ◽  
Neda Drndarevic ◽  
...  
Keyword(s):  
Lung Carcinoma ◽  
Large Cell ◽  
Imaging Feature ◽  
Cell Lung Carcinoma ◽  
Genetic Finding ◽  
Large Cell Lung Carcinoma

Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook

2010 ◽  
Vol 33 (S2) ◽  
pp. 289-294 ◽  
Author(s):  
Celia J. Angaroni ◽  
Alicia N. Giner-Ayala ◽  
Lorena P. Hill ◽  
Norberto B. Guelbert ◽  
Ana E. Paschini-Capra ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage ◽  
Hepatic Glycogen ◽  
Genetic Finding ◽  
Biotinidase Activity

Remarkable Genetic Finding in a Girl with Phenotype of Classic Pelizäus-Merzbacher Disease: Xq22.2 Microdeletion Including PLP1 and Other Genes

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
C. Kehrer ◽  
M. Kehrer ◽  
S. Groeschel ◽  
A. Dufke ◽  
I. Krägeloh-Mann
Keyword(s):  
Genetic Finding
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