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BioLarkPubmedHPO
Documents
(226)
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# proj.
# Ann.
updated_at
PubMed
19533801
Identification of a SUFU germline mutation in a family with Gorlin syndrome. Gorlin syndrome (GS) is
886 Bytes
2015-11-25
10
16
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PubMed
1951448
Townes-Brocks syndrome in two mentally retarded youngsters. We report on 2 children with Townes-Broc
330 Bytes
2015-12-07
10
16
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PubMed
2012134
Diagnosis of Angelman syndrome in infants. The diagnosis of Angelman syndrome (AS) has seldom been m
1.23 KB
2016-01-07
10
52
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PubMed
1456285
Constitutional translocation t(4;22) (q12;q12.2) associated with neurofibromatosis type 2. We report
932 Bytes
2015-11-22
10
16
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PubMed
10593995
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van de
1.16 KB
2015-11-21
10
56
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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
10982040
An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(
663 Bytes
2015-11-15
10
4
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PubMed
9024575
Clinical and locus heterogeneity in brachydactyly type C. Brachydactyly type C is characterized by s
1.32 KB
2015-12-07
9
80
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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
263442
Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies
1.53 KB
2016-01-30
9
120
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