Results 71 to 80 of about 167,517,803 (126)

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of swiss ancestry with congenital lipoid adrenal hyperplasia [PDF]

, 2005
Context: Lipoid congenital adrenal hyperplasia (CAH) is the most severe form of CAH leading to impaired production of all adrenal and gonadal steroids.
Maret, A, Achermann, J. C., Mullis, PE, Morel, Y., Leheup, B, Flück, Christa E., Portrat-Doyen, Stéphanie, Leheup, B., Achermann, JC, Mallet, D, Fluck, CE, Mullis, Primus-Eugen, Fluck, C. E., Maret, A., Morel, Yves, Mullis, P. E., Theintz, Gérald E., Portrat-Doyen, S., Theintz, GE, Leheup, Bruno, Mallet, D., Achermann, John C., Theintz, G. E., Morel, Y, Portrat-Doyen, S, Maret, Alexander, Mallet, Delphine   +26 more
core   +2 more sources

ISEV2026 Abstract Book

Journal of Extracellular Vesicles, Volume 15, Issue S1, June 2026.
wiley   +1 more source

Pulse oximetry screening for clinically unrecognized critical congenital heart disease in the newborns [PDF]

, 2007
The aim of this article is to determine the incidence of clinically unrecognized critical congenital heart disease (CCHD) in the newborns by using pulse oximetric screening.peer ...
Pongpanich, Boonchab, Bunjapamai, W., Ruangritnamcha, Chatree   +2 more
core  

Congenital Disorder of Deglycosylation [PDF]

, 2020
openaire   +1 more source

Accuracy of pulse oximetry screening for detecting critical congenital heart disease in the newborns in rural hospital of Central India [PDF]

, 2013
Congenital cardiovascular malformations are the most common category of birth defects and responsible for mortality in the first twelve months of life.
Taksande, Amar M., Suwarnakar, K., Gadekar, A., Japzape, T., Lakhkar, Bhawna   +4 more
core  

Risk of congenital anomaly in relation to residence near hazardous waste landfill sites. [PDF]

The main aim of this thesis is to investigate whether residence near hazardous waste landfill sites is associated with an increased risk of congenital anomaly.
Vrijheid, Martine
core   +1 more source

N-Glycosylation Site Analysis of Proteins from Saccharomyces cerevisiae by Using Hydrophilic Interaction Liquid Chromatography-Based Enrichment, Parallel Deglycosylation, and Mass Spectrometry

, 2014
N-Glycosylation site analysis of baker's yeast Saccharomyces cerevisiae is of fundamental significance to elucidate the molecular mechanism of human congenital disorders of glycosylation (CDG).
于龙, Yu, Long, Guo, Yunu, Liang, Xinmiao, 梁鑫淼, Guo, Zhimou, Shen, Aijin, Cao, Liwei   +7 more
core   +1 more source

Heart Murmur in Neonates: How Often Is It Caused by Congenital Heart Disease [PDF]

Objective: Congenital heart disease (CHD) is the most common form of cardiovascular diseases in children. This study was performed from September 2006 to August 2007 in Ardebil, Westnorthern Iran.
انتشاری مقدم, افسانه, دوستکامی, حسین, میرزا رحیمی, مهرداد, عیسی زاده فر, خاطره, علی پور, رقیه, سعادتی, حکیمه   +5 more
core  

Hereditary congenital unilateral deafness: A new disorder?

, 2005
Congenital unilateral deafness is a rare disorder. The prevalence rates are unknown. The prevalence of children with severe to profound hearing losses that are congenital (or acquired before the development of speech and language) is 0.5 to 3 per 1,000 ...
Verheij, JBGM, van Mechelen, M, Dikkers, FG   +2 more
core   +1 more source