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/vufind/Search/Results?lookfor=%22Silveira%2C+Karina+C%22&type=Person&sort=year
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PubPharm (7)
1
CYP26B1-related disorder : expanding the ends of the spectrum through clinical and molecular evidence
enthalten in:
Human genetics
| 2023
von
Silveira, K.
|
Fonseca, I.
|
Oborn, C.
| +14
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2
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias
enthalten in:
American journal of medical genetics. Part C, Seminars in medical genetics
| 2021
von
Silveira, K.
|
Kanazawa, T.
|
Silveira, C.
| +3
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3
Skeletal dysplasias in Latin America
enthalten in:
American journal of medical genetics. Part C, Seminars in medical genetics
| 2020
von
Cavalcanti, D.
|
Fano, V.
|
Mellado, C.
| +10
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4
Skeletal dysplasias in Latin America
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2020
von
Cavalcanti, D.
|
Fano, V.
|
Mellado, C.
| +10
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5
Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122
enthalten in:
American journal of medical genetics. Part A
| 2017
von
Silveira, K.
|
Moreno, C.
|
Cavalcanti, D.
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6
Beemer–Langer syndrome is a ciliopathy due to biallelic mutations in IFT122
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2017
von
Silveira, K.
|
Moreno, C.
|
Cavalcanti, D.
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7
Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up
enthalten in:
American journal of medical genetics. Part A
| 2015
von
Silveira, K.
|
Bonadia, L.
|
Superti-Furga, A.
| +3
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1
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Zeitschriftentitel
2
American Journal of Medical Genetics Part C: Se...
2
American journal of medical genetics. Part A
2
American journal of medical genetics. Part C, S...
1
Human genetics
Thema
5
Journal Article
3
Research Support, Non-U.S. Gov't
2
Case Reports
1
5688UTC01R
1
Adaptor Proteins, Signal Transducing
1
B3GALT6 protein, human
1
Beemer-Langer syndrome
1
COL2A1 protein, human
1
CYP26B1 protein, human
1
Choline-Phosphate Cytidylyltransferase
1
Collagen Type II
1
Cytoskeletal Proteins
1
EC 1.14.14.1
1
EC 2.4.1.-
1
EC 2.7.7.15
1
Galactosyltransferases
1
IFT122
1
IFT122 protein, human
1
KIAA0753 gene
1
Latin America
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