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11
High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome
High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome
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High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome

Aretz, S ; Stienen, D ; Uhlhaas, S ; Stolte, M ; Entius, M M ; Loff, S ; Back, W ; Kaufmann, A ; Keller, K-M ; Blaas, S H ; Siebert, R ; Vogt, S ; Spranger, S ; Holinski-Feder, E ; Sunde, L ; Propping, P ; Friedl, W

Journal of medical genetics, 2007-11, Vol.44 (11), p.702-709 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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12
Olfactory sensitivity and threat-sensitive responses to alarm cue in an invasive fish
Olfactory sensitivity and threat-sensitive responses to alarm cue in an invasive fish
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Olfactory sensitivity and threat-sensitive responses to alarm cue in an invasive fish

Wagner, C. Michael ; Bals, Jason D. ; Byford, Gregory J. ; Scott, Anne M. ; Feder, Mikaela E.

Biological invasions, 2023-10, Vol.25 (10), p.3083-3101 [Periódico revisado por pares]

Cham: Springer International Publishing

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13
Analysis of 3297 individuals suggests that the pathogenic germline 5′-UTR variant BRCA1 c.-107A > T is not common in south-east Germany
Analysis of 3297 individuals suggests that the pathogenic germline 5′-UTR variant BRCA1 c.-107A > T is not common in south-east Germany
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Analysis of 3297 individuals suggests that the pathogenic germline 5′-UTR variant BRCA1 c.-107A > T is not common in south-east Germany

Laner, A. ; Benet-Pages, A. ; Neitzel, B. ; Holinski-Feder, E.

Familial cancer, 2020-07, Vol.19 (3), p.211-213 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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14
Extension of the phenotype of biallelic loss‐of‐function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I
Extension of the phenotype of biallelic loss‐of‐function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I
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Extension of the phenotype of biallelic loss‐of‐function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I

Braunisch, M.C. ; Gallwitz, H. ; Abicht, A. ; Diebold, I. ; Holinski‐Feder, E. ; Van Maldergem, L. ; Lammens, M. ; Kovács‐Nagy, R. ; Alhaddad, B. ; Strom, T.M. ; Meitinger, T. ; Senderek, J. ; Rudnik‐Schöneborn, S. ; Haack, T.B.

Clinical genetics, 2018-02, Vol.93 (2), p.255-265 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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15
The brachyceran de novo gene PIP82, a phosphorylation target of aPKC, is essential for proper formation and maintenance of the rhabdomeric photoreceptor apical domain in Drosophila
The brachyceran de novo gene PIP82, a phosphorylation target of aPKC, is essential for proper formation and maintenance of the rhabdomeric photoreceptor apical domain in Drosophila
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The brachyceran de novo gene PIP82, a phosphorylation target of aPKC, is essential for proper formation and maintenance of the rhabdomeric photoreceptor apical domain in Drosophila

Zelhof, Andrew C ; Mahato, Simpla ; Liang, Xulong ; Rylee, Jonathan ; Bergh, Emma ; Feder, Lauren E ; Larsen, Matthew E ; Britt, Steven G ; Friedrich, Markus Desplan, Claude

PLoS genetics, 2020-06, Vol.16 (6), p.e1008890-e1008890 [Periódico revisado por pares]

United States: Public Library of Science

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16
Evolution of heat‐shock protein expression underlying adaptive responses to environmental stress
Evolution of heat‐shock protein expression underlying adaptive responses to environmental stress
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Evolution of heat‐shock protein expression underlying adaptive responses to environmental stress

Chen, Bing ; Feder, Martin E. ; Kang, Le

Molecular ecology, 2018-08, Vol.27 (15), p.3040-3054 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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17
Phylogeny Disambiguates the Evolution of Heat-Shock cis-Regulatory Elements in Drosophila
Phylogeny Disambiguates the Evolution of Heat-Shock cis-Regulatory Elements in Drosophila
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Phylogeny Disambiguates the Evolution of Heat-Shock cis-Regulatory Elements in Drosophila

Tian, Sibo ; Haney, Robert A ; Feder, Martin E Seoighe, Cathal

PloS one, 2010-05, Vol.5 (5), p.e10669 [Periódico revisado por pares]

United States: Public Library of Science

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18
MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations
MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations
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MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations

Morak, M ; Laner, A ; Bacher, U ; Keiling, C ; Holinski-Feder, E

Clinical genetics, 2010-10, Vol.78 (4), p.353-363 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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19
Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)
Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)
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Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)

Horváth, R ; Abicht, A ; Holinski-Feder, E ; Laner, A ; Gempel, K ; Prokisch, H ; Lochmüller, H ; Klopstock, T ; Jaksch, M

Journal of neurology, neurosurgery and psychiatry, 2006-01, Vol.77 (1), p.74-76 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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20
The biological limitations of transcriptomics in elucidating stress and stress responses
The biological limitations of transcriptomics in elucidating stress and stress responses
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The biological limitations of transcriptomics in elucidating stress and stress responses

FEDER, M. E. ; WALSER, J.‐C.

Journal of evolutionary biology, 2005-07, Vol.18 (4), p.901-910 [Periódico revisado por pares]

Oxford, UK: Blackwell Science Ltd

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