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Наукові праці. Кафедра медичної генетики
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Results 11-13 of 13 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2014
An early manifestation of LBSL (leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation) syndrom, case description
Grechanina, Elena
;
Zdubskaya, Elena
2014
Сочетание Синдрома Галлервордена-Шпатца с дефицитом метионинсинтазы редуктазы, гипергомоцистеинемией и митохондриальной дисфункцией
Гринченко, Ю.Н.
;
Гречанина, Ю.Б.
;
Молодан, Л.В.
;
Здыбская, Е.П.
;
Бугаева, Е.В.
;
Нагиева, К.Ф.
2014
A new variant of Ehlers-Danlos syndrome with inborn errors of mucopolysaccharide metabolism in the mother and son
Bugaeva, Olena
;
Grechanina, Elena
;
Grechanina, Juliya
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Author
6
Гречанина, Ю.Б.
5
Grechanina, Juliya
5
Гречанина, Е.Я.
5
Молодан, Л.В.
4
Grechanina, Elena
2
Yanovska, Anna
2
Белецкая, С.В.
2
Здыбская, Е.П.
2
Нагиева, К.Ф.
1
Bugaeva, Olena
.
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mitochondrial dysfunction
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chromosomal abnormalities
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chromosome 1
1
cystic fibrosis
1
Ehlers-Danlos syndrome
1
fumaric aciduria
1
gas chromatography-mass spectrometry
1
HHH syndrome
1
hiperammonemia
1
homocitrullinuria
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