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Results of search for 'au:"Preising, M"', page 2 of 2
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Authors
Andrassi, M
Andrassi-Darida, M
Ardjo, S M
Aßmann, C
Baumert, U
Bek, T
Bolz, H J
Bowl, W
Bremser, D
Friedburg, C
Golan, I
Lorenz, B
Müssig, D
Niederdellmann, H
Paunescu, K
Preising, M
Preising, M N
Sitorus, R
Stieger, K
Wagener, H
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Adolescent
Adult
Child
Child, Preschool
Chloride Channels
DNA Mutational Analysis
Electroretinography
Eye Diseases, Hereditary
Eye Proteins
Female
Genetic Predisposition to Disease
Genetic Testing
Genotype
Humans
Male
Mutation
Phenotype
Retinal Diseases
diagnosis
genetics
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Your search returned 27 results.
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21.
Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis.
[electronic resource]
by
Schindler, S
Friedrich, M
Wagener, H
Lorenz, B
Preising, M N
Producer:
20021213
In:
Journal of medical genetics
vol. 39
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22.
Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy.
[electronic resource]
by
Wabbels, B
Preising, M N
Kretschmann, U
Demmler, A
Lorenz, B
Producer:
20070820
In:
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
vol. 244
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23.
Autosomal recessive bestrophinopathy: new observations on the retinal phenotype - clinical and molecular report of an Italian family.
[electronic resource]
by
Guerriero, S
Preising, M N
Ciccolella, N
Causio, F
Lorenz, B
Fischetto, R
Producer:
20110809
In:
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde
vol. 225
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24.
A novel missense mutation of the CBFA1 gene in a family with cleidocranial dysplasia (CCD) and variable expressivity.
[electronic resource]
by
Golan, I
Preising, M
Wagener, H
Baumert, U
Niederdellmann, H
Lorenz, B
Müssig, D
Producer:
20010531
In:
Journal of craniofacial genetics and developmental biology
vol. 20
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25.
Atypical expression of cleidocranial dysplasia: clinical and molecular-genetic analysis.
[electronic resource]
by
Golan, I
Baumert, U
Wagener, H
Dauwerse, J
Preising, M
Lorenz, B
Niederdellmann, H
Müssig, D
Producer:
20030114
In:
Orthodontics & craniofacial research
vol. 5
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26.
[Autosomal recessive bestrophinopathy (ARB): a clinical and molecular description of two patients at childhood].
[electronic resource]
by
Preising, M N
Pasquay, C
Friedburg, C
Bowl, W
Jäger, M
Andrassi-Darida, M
Lorenz, B
Producer:
20130416
In:
Klinische Monatsblatter fur Augenheilkunde
vol. 229
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27.
Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.
[electronic resource]
by
Lorenz, B
Gyürüs, P
Preising, M
Bremser, D
Gu, S
Andrassi, M
Gerth, C
Gal, A
Producer:
20000815
In:
Investigative ophthalmology & visual science
vol. 41
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