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PubCasesHPO
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# proj.
# Ann.
updated_at
PubMed
17345627
Over-expression of BMP4 and BMP5 in a child with axial skeletal malformations and heterotopic ossifi
1.4 KB
2017-09-11
33
3
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PubMed
17033686
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and ment
1.62 KB
2017-09-11
33
9
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PubMed
16412238
Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial par
1.45 KB
2015-11-20
33
5
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PubMed
20828385
Cytostatic and anti-angiogenic effects of temsirolimus in refractory mantle cell lymphoma. Mantle ce
1.38 KB
2015-12-31
32
2
-
PubMed
21684788
Large contiguous gene deletions in Sjögren-Larsson syndrome. Sjögren-Larsson syndrome (SLS) is an au
1.5 KB
2015-11-26
32
2
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PubMed
15122711
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Alpers' syndrome is
802 Bytes
2015-11-22
32
2
-
PubMed
7744780
A mutation of angiotensinogen in a patient with preeclampsia leads to altered kinetics of the renin-
1.48 KB
2017-10-12
32
4
-
PubMed
24100257
Takotsubo syndrome (or apical ballooning syndrome) secondary to Zolmitriptan. Takotsubo syndrome (TS
1.4 KB
2016-01-16
32
9
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PubMed
19208385
Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with muta
890 Bytes
2017-09-04
31
5
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PubMed
1709636
A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant o
1.05 KB
2017-09-11
31
0
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