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BioLarkPubmedHPO
Documents
(226)
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# proj.
# Ann.
updated_at
PubMed
8576558
Seizure and EEG patterns in Angelman's syndrome. We studied the seizure and polygraphic patterns of
915 Bytes
2017-03-14
1
80
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PubMed
10771486
Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors. Schwannoma
1.5 KB
2015-11-15
5
80
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PubMed
1415348
Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome. We report on a woman
965 Bytes
2015-11-30
9
76
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PubMed
19476995
Neurofibromatosis type 2. Neurofibromatosis type 2 is an autosomal-dominant multiple neoplasia syndr
986 Bytes
2017-03-14
5
76
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PubMed
1484939
A clinical study of type 2 neurofibromatosis. The clinical features, age at onset of symptoms and su
1.26 KB
2015-11-22
3
76
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PubMed
7485365
Ocular abnormalities in neurofibromatosis 2. PURPOSE: To evaluate the ocular abnormalities in patien
1.87 KB
2017-03-14
1
75
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PubMed
18177466
Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. Bran
1.47 KB
2015-11-23
11
72
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PubMed
8669439
Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculoverteb
1.01 KB
2017-03-14
8
72
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PubMed
10631923
Two cases of Townes-Brocks syndrome. Townes-Brocks syndrome (TBS) has been recognized as a dominant
1.12 KB
2015-11-15
11
72
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PubMed
15190457
Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based
1.51 KB
2015-11-19
3
72
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