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BioLarkPubmedHPO
Documents
(226)
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# proj.
# Ann.
updated_at
PubMed
998578
Severe renal dysgenesis produced by a dominant gene. A woman with the autosomal dominant syndrome of
585 Bytes
2017-03-14
8
56
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PubMed
9949213
The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a l
1.38 KB
2017-03-14
1
8
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PubMed
9931336
Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal
1.09 KB
2015-11-27
3
32
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PubMed
9863591
Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic ves
1.16 KB
2015-12-05
1
36
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PubMed
9831341
Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a transloca
886 Bytes
2015-11-27
10
16
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PubMed
9811917
Long-term outcomes after radiosurgery for acoustic neuromas. BACKGROUND: Stereotactic radiosurgery i
2.28 KB
2017-03-14
1
12
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PubMed
9808466
Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of c
1.04 KB
2017-03-14
1
12
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PubMed
9643284
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease
1.49 KB
2015-11-27
3
20
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PubMed
955942
[Happy-puppet syndrome]. "Happy puppet" syndrome ou syndrome du "pantin hilare" Six cases of this sy
524 Bytes
2017-03-14
9
36
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PubMed
9557895
Genetic counseling in Angelman syndrome: the challenges of multiple causes. The causal heterogeneity
1.52 KB
2015-11-27
2
4
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