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HOYERAAL-HREIDARSSON SYNDROME

Known as: Cerebellar hypoplasia with pancytopenia, HHS, Hoyeraal Hreidarsson syndrome 
 
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline… Expand
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Highly Cited
2013
Highly Cited
2013
Dyskeratosis congenita (DC) is an inherited bone marrow failure and cancer predisposition syndrome caused by aberrant telomere… Expand
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Highly Cited
2011
Highly Cited
2011
How pseudouridylation (Ψ), the most common and evolutionarily conserved modification of rRNA, regulates ribosome activity is… Expand
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Highly Cited
2010
Highly Cited
2010
Telomeres, the protein–DNA complexes at the ends of linear chromosomes, are protected and regulated by the shelterin molecules… Expand
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Highly Cited
2008
Highly Cited
2008
Hetzler, RK, Stickley, CD, Lundquist, KM, and Kimura, IF. Reliability and accuracy of handheld stopwatches compared with… Expand
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Highly Cited
2007
Highly Cited
2007
Dyskeratosis congenita (DC) is a multisystem bone marrow failure syndrome characterized by a triad of mucocutaneous abnormalities… Expand
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Highly Cited
2007
Highly Cited
2007
BACKGROUND AND PURPOSE In experimental studies infusion of hypertonic saline during cardiopulmonary resuscitation (CPR) increased… Expand
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Highly Cited
1999
Highly Cited
1999
Hoyeraal‐Hreidarsson (HH) syndrome is a multisystem disorder affecting boys characterized by aplastic anaemia (AA… Expand
1992
1992
Hypertonic/hyperoncotic solutions (e.g. HHS: 7.2% NaCl/10% dextran-60) are highly effective to normalize cardiovascular function… Expand
Highly Cited
1990
Highly Cited
1990
The macro- and microcirculatory effect of small-volume resuscitation with hyperosmotic-hyperoncotic solutions was analyzed in 21… Expand