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BioLarkPubmedHPO
Documents
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# proj.
# Ann.
updated_at
PubMed
6846397
The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs. We report a
685 Bytes
2015-11-28
11
28
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PubMed
17431915
Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities
1.18 KB
2017-09-11
11
36
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PubMed
12011146
Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas.
1.97 KB
2015-11-17
11
40
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PubMed
10482951
A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to spe
1.01 KB
2015-11-15
11
40
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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
14699618
Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11
1.61 KB
2015-11-18
11
52
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PubMed
16957682
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like pheno
1.58 KB
2015-11-20
11
36
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PubMed
11078565
Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methyl
1.36 KB
2015-11-17
11
44
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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
2729353
Angelman syndrome in a daughter with del(15) (q11q13) associated with brachycephaly, hearing loss, e
750 Bytes
2015-03-12
10
32
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