genetic finding
Recently Published Documents

TOTAL DOCUMENTS

12
(FIVE YEARS 2)

H-INDEX

3
(FIVE YEARS 0)
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

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.

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

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

Could Spindle Cell Lung Carcinoma be Considered and Treated as Sarcoma, According to its Clinical Course, Morphology, Immunophenotype and Genetic Finding?

2012 ◽  
Vol 19 (1) ◽  
pp. 129-133 ◽  
Author(s):  
Milica Kontic ◽  
Jelena Stojsic ◽  
Ruza Stevic ◽  
Vera Bunjevacki ◽  
Biljana Jekić ◽  
...  
Keyword(s):  
Lung Carcinoma ◽  
Spindle Cell ◽  
Clinical Course ◽  
Cell Lung Carcinoma ◽  
Genetic Finding

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

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

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

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
Load More ...
Sign in / Sign up

Export Citation Format

Share Document