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Najjar syndrome
Known as:
Cardiogenital syndrome
, Genital Anomaly With Cardiomyopathy
National Institutes of Health
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Related topics
Related topics
3 relations
Broader (2)
Cardiomyopathies
Genitalia
Malouf syndrome
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Repeated AAV-mediated gene transfer by serotype switching enables long-lasting therapeutic levels of hUgt1a1 enzyme in a mouse model of Crigler–Najjar Syndrome Type I
L. Bočkor
,
G. Bortolussi
,
+6 authors
A. Muro
Gene Therapy
2017
Corpus ID: 5042962
Adeno-associated virus (AAV) -mediated gene therapy is a promising strategy to treat liver-based monogenic diseases. However, two…
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2016
2016
ОРФАННЫЙ ФЕНОТИП КАРДИОГЕНИТАЛЬНОЙ ЛАМИНОПАТИИ – СИНДРОМ МАЛУФА (КРАТКИЙ ЛИТЕРАТУРНЫЙ ОБЗОР И КЛИНИЧЕСКИЙ СЛУЧАЙ ИЗ ПРАКТИКИ)
Т. Г. Вайханская
,
Л. Н. Сивицкая
,
Н. Г. Даниленко
,
Т. В. Курушко
,
О. Г. Нижникова
,
О. Г. Давыденко
2016
Corpus ID: 79067306
Recent decades significantly increased the spectrum of monogenic diseases associated with mutations in the gene of lamin A/C…
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2008
2008
The Tunisian population history through the Crigler–Najjar type I syndrome
F. Petit
,
S. Bézieau
,
+10 authors
P. Labrune
European Journal of Human Genetics
2008
Corpus ID: 40314021
Crigler–Najjar syndrome type I (CN-I) is a rare and severe metabolic disorder. A recurrent mutation – c.1070A>G in exon 3 – was…
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2005
2005
Paternal isodisomy for chromosome 2 as the cause of Crigler–Najjar type I syndrome
F. Petit
,
V. Gajdos
,
+6 authors
P. Labrune
European Journal of Human Genetics
2005
Corpus ID: 36604436
Crigler–Najjar syndrome type I (CN-I) is a rare and severe autosomal recessive metabolic disease due to a total deficiency of…
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