7 research outputs found
Long QT and Silver Russell syndrome : First case report in a 9-year-old girl
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2020
- Field of study
Atypical AT Skew in Firmicute Genomes Results from Selection and Not from Mutation
- Author
- A NecĆulea
- AC Frank
- BJ Brewer
- C Nikolaou
- Catherine A. Charneski
- Dmitri A. Petrov
- E Angov
- E Rocha
- Edward J. Feil
- EP Rocha
- EP Rocha
- EP Rocha
- EP Rocha
- EPC Rocha
- EPC Rocha
- ER Tillier
- F Hildebrand
- FJR Taylor
- Frank Honti
- G Achaz
- GR Plague
- H Akashi
- J MrĂĄzek
- Josephine M. Bryant
- JR Lobry
- JR Lobry
- JR Lobry
- K Takai
- KE Holt
- KJ Balbi
- KP Williams
- KP Williams
- Laurence D. Hurst
- LD Hurst
- M Wolf
- MD Barton
- MJ McLean
- MO de Carvalho
- MP Francino
- MT Holden
- N Molina
- N Sueoka
- NJ ten Broeke-Smits
- P Mackiewicz
- P Worning
- P Yarza
- PW Messer
- R Hershberg
- RA Morton
- S Castillo-RamĂrez
- SR Harris
- W Ludwig
- X Liu
- Publication venue
- Public Library of Science
- Publication date
- 01/01/2011
- Field of study
The second parity rule states that, if there is no bias in mutation or selection, then within each strand of DNA complementary bases are present at approximately equal frequencies. In bacteria, however, there is commonly an excess of G (over C) and, to a lesser extent, T (over A) in the replicatory leading strand. The low G+C Firmicutes, such as Staphylococcus aureus, are unusual in displaying an excess of A over T on the leading strand. As mutation has been established as a major force in the generation of such skews across various bacterial taxa, this anomaly has been assumed to reflect unusual mutation biases in Firmicute genomes. Here we show that this is not the case and that mutation bias does not explain the atypical AT skew seen in S. aureus. First, recently arisen intergenic SNPs predict the classical replication-derived equilibrium enrichment of T relative to A, contrary to what is observed. Second, sites predicted to be under weak purifying selection display only weak AT skew. Third, AT skew is primarily associated with largely non-synonymous first and second codon sites and is seen with respect to their sense direction, not which replicating strand they lie on. The atypical AT skew we show to be a consequence of the strong bias for genes to be co-oriented with the replicating fork, coupled with the selective avoidance of both stop codons and costly amino acids, which tend to have T-rich codons. That intergenic sequence has more A than T, while at mutational equilibrium a preponderance of T is expected, points to a possible further unresolved selective source of skew
Long QT and Silver Russell syndrome : First case report in a 9-year-old girl
- Author
- Publication venue
- Publication date
- Field of study
Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2016
- Field of study
Intellectual disability (ID) disorders are genetically and phenotypically extremely heterogeneous. Can this complexity be depicted in a comprehensive way as a means of facilitating the understanding of ID disorders and their underlying biology? We provide a curated database of 746 currently known genes, mutations in which cause ID (ID-associated genes [ID-AGs]), classified according to ID manifestation and associated clinical features. Using this integrated resource, we show that ID-AGs are substantially enriched with co-expression, protein-protein interactions, and specific biological functions. Systematic identification of highly enriched functional themes and phenotypes revealed typical phenotype combinations characterizing process-defined groups of ID disorders, such as chromatin-related disorders and deficiencies in DNA repair. Strikingly, phenotype classification efficiently breaks down ID-AGs into subsets with significantly elevated biological coherence and predictive power. Custom-made functional Drosophila datasets revealed further characteristic phenotypes among ID-AGs and specific clinical classes. Our study and resource provide systematic insights into the molecular and clinical landscape of ID disorders, represent a significant step toward overcoming current limitations in ID research, and prove the utility of systematic human and cross-species phenomics analyses in highly heterogeneous genetic disorders
Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules
- Author
- Annette Schenck
- Ashburner
- Bacon
- Bahi-Buisson
- Basu
- Bayés
- Betancur
- Bonnie Nijhof
- Bourgeron
- Brand
- Caleb Webber
- Chintapalli
- Christiane Zweier
- Cline
- Deans
- Dietzl
- Flicek
- Frank Honti
- Freimer
- Gilissen
- Grant
- Grozeva
- He
- Honti
- Houle
- Inlow
- Jamie M. Kramer
- Kalinka
- Keshava Prasad
- Kleefstra
- Korinna Kochinke
- Kou
- Krumm
- Köhler
- Lee
- Martijn A. Huynen
- McGary
- Merel A.W. Oortveld
- Michaela Fenckova
- Morava
- Najmabadi
- NeumĂŒller
- Oortveld
- Oti
- Oti
- Parikshak
- Pavel Cizek
- Pavlowsky
- Pinto
- Pugacheva
- Redin
- Ropers
- Ruan
- Sama
- Schalock
- Schmidt
- Schnorrer
- Sealfon
- Shendure
- Shivakumar Keerthikumar
- Stark
- Tjitske Kleefstra
- Valente
- van der Voet
- Vulto-van Silfhout
- Yamamoto
- Zaghloul
- Zenker
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
Platinum-Group Metals, Alloys and Compounds in Catalysis
- Author
- A Borodzinski
- A Borodzinski
- A Farkas
- A Frackiewicz
- A Furst
- A Harriman
- A Nakamura
- A Nidola
- A Ofner
- A Onopchenko
- A Prince
- A Prince
- A Sieverts
- A Wheeler
- AA Grinberg
- AA Grinberg
- AA Grinberg
- AA Siddiqi
- AB Fasman
- AB Fasman
- AB Fasman
- AB Fasman
- AB Fasman
- AB Fasman
- AB Fasman
- AB Fasman
- AB Fasman
- AB Fasman
- AB Fasman
- AB Fasman
- AB Fasman
- AB Fasman
- AB Fasman
- AB Fasman
- AB Fasman
- AB Fasman
- AB Stiles
- ACL Su
- AD Ketley
- AD Ketley
- AD Semenova
- AD Semenova
- AD Semenova
- AD Semenova
- AD Westland
- ADF Toy
- AE Heywood
- AE Rea
- AE Shilov
- AER Budd
- AF Diwell
- AF Diwell
- AF Diwell
- AF Wells
- AF Wells
- AG Burden
- AG Knapton
- AG Oblad
- AH Janowicz
- AJ Appleby
- AJ Birch
- AJ Bird
- AJ Bird
- AJ Bird
- AJ Canale
- AJ Chalk
- AJ Haagen-Smit
- AJB Robertson
- AJB Robertson
- AK Holliday
- AK Holliday
- AL Wilds
- AM Feltham
- AM Taber
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- B Christensen
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- RH Griffith
- RH Plovnick
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- RH Thring
- RH Thring
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- RJ Kokes
- RJ Madix
- RJ Madon
- RJ Madon
- RJ Malone
- RJ Peterson
- RJ Peterson
- RJ Peterson
- RJ Rennard
- RJ Ruff
- RJH Voorhoeve
- RJH Voorhoeve
- RJH Voorhoeve
- RL Augustine
- RL Augustine
- RL Augustine
- RL Augustine
- RL Burwell
- RL Burwell
- RL Moss
- RL Moss
- RL Moss
- RL Moss
- RL Pruett
- RM Barrer
- RM Barrer
- RN Bennett
- RP Elliott
- RP Elliott
- RP Elliott
- RP Graber
- RTK Baker
- RW Bartlett
- RW McCabe
- S Berkman
- S Berkman
- S Bhan
- S Bhan
- S CernĂœ
- S Furuseth
- S Furuseth
- S Nagata
- S Nishimura
- S Nishimura
- S Nishimura
- S Nishimura
- S Nishimura
- S Nishimura
- S Nishimura
- S Nishimura
- S Nishimura
- S Nishimura
- S Nishimura
- S Nishimura
- S Nishimura
- S Nishimura
- S Nishimura
- S Saito
- S Saito
- S Soled
- S Sriniwasan
- S Torrey
- SC Davies
- SC Davis
- SC Davis
- SC Davis
- SC Davis
- SC Stinson
- SD James
- SE Livingstone
- SE Livingstone
- SE Wanke
- SE Wanke
- SG Gagarin
- Shell Research Ltd. Great Britain
- SJ Green
- SJ Green
- SJ Green
- SL Handforth
- SL Handforth
- SL Handforth
- SM Kulifay
- SM Kullifay
- SM Tuthill
- SPS Andrews
- SS Scholnik
- ST Oyama
- SW Weiler
- T Baird
- T Chilton
- T Cosciug
- T Fleisch
- T Kubota
- T Kubota
- T Posternak
- T Wang
- T Wang
- T Wang
- T Yashima
- T Yashima
- TA Foglia
- TA Foglia
- TB Flanagan
- TE Fischer
- TE Rummery
- TE Rummery
- TH Snape
- TH Snape
- U.S. Dept. of Commerce
- UA Spitzer
- V Ponec
- V Ponec
- V Ponec
- V Ponec
- V Ponec
- V Vorhees
- VA Golodov
- VD Markov
- VD Markov
- VD Markov
- VD Markov
- VE Kalinina
- VE Kalinina
- VF Svidchenko
- VF Svidchenko
- VF Svidchenko
- VF Svidchenko
- VI Komarewsky
- VI Komarewsky
- VI Komarewsky
- VI Komarewsky
- VI Komarewsky
- VI Komarewsky
- VI Komarewsky
- VI Nikitin
- VI Nikitin
- VI Savelâeva
- VL Frampton
- VL Kuznetsov
- VN Mozhaiko
- VN Singh
- W Bronger
- W Fletcher
- W Heegemann
- W Keim
- W Kimel
- W Krause
- W Palczewska
- W Palczewska
- W Palczewska
- W Rheume
- W Rheume
- W RĂŒdorff
- W Wawrzyczek
- W Wawrzyczek
- WA Frad
- WA Frad
- WC Meuby
- WC Pfefferle
- WD Johnston
- WD Johnston
- WF Tuley
- WG Moffatt
- WG Moffatt
- WG Moffatt
- WG Moffatt
- WG Moffatt
- WH Carothers
- WH Carothers
- WH Jones
- WMH Sachtler
- WMH Sachtler
- WMH Sachtler
- WMH Sachtler
- WMH Sachtler
- WMH Sachtler
- WMH Sachtler
- WN Stassen
- WP Dunworth
- WP Griffith
- WP Griffith
- WP Griffith
- WP Griffith
- WR Grove
- WR Grove
- WS Gore
- WT Grubb
- WT Grubb
- WT McGoron
- Y Berthier
- Y Dror
- Y Nakano
- Y Nakano
- Y Nitta
- Y Nitta
- Y Nitta
- Y Okamoto
- Y Takagi
- Y Takagi
- Y Takagi
- Y Takagi
- Y Takasu
- YA Dorfman
- YFY Yao
- YN Novikov
- YY Yao
- Z Csuros
- Z Csuros
- Z Csuros
- Z Csuros
- Z Csuros
- Z Paal
- Z Paal
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1985
- Field of study
C. Literaturwissenschaft.
- Author
- Abba Giuseppe Cesare A.
- Abril Xavier
- Acciaiuoli Edoardo P.
- Aceyedo Hernandez
- Actes
- Adam Paul
- Adamsspiel K.
- Adolfus von Wien E.
- Agoult Marie C.
- Aimon de Varennes H.
- Aita A.
- Alain-Fournier
- Alain-Fournier
- Alarcon Pedro Antonio
- Albergati Fabio E.
- Alcala Yanez
- Alciati Andrea J. L.
- Alcover J.
- Aldana Francisco
- Alexander
- Alexius
- Alfredo Panzini
- Algunes
- Alguns
- Alguns
- Alguns
- Alonso A.
- Alonso Cortes N.
- Alvarez J. C.
- Alvarez Quintero Serafin C
- Amades J.
- Amades J.
- Amades J.
- Amades J.
- Amado Jörge R. A.
- Ambrosiue L. T.
- Amiel Henri-Fre'doric B.
- Amiel J. H.
- Amoretti
- Amoretti
- Amoretti
- Amrein Martha
- Amyot
- Anagnine E.
- Andreas Capellanus A
- Angeli Diego G. R.
- Anglfes H.
- Annali R
- Annunzio
- Anrieta R. A.
- Antologia
- Antologia
- Antologia S
- Antologias
- Apicius J.
- Arabella Williame H.
- Arco R.
- Arderiu Clementina J.
- Aretino Pietro B.
- Arioslo Lodovico
- Aroztegui Abdon
- Arrighi P.
- Arteaga Stefano M.
- Aspects
- Ass
- Asti
- Atkinson W. C.
- Auerbach E.
- Augier Ismile B.
- Augustmus J.
- Autos
- Autour
- Azorin J. A.
- Babillot Fran
- Baccini D.
- Bacelar J.
- Badin J.
- Baer G.
- Bainville Jacques
- Baldensperger F.
- Ballensiefen H.
- Bandin L.
- Baour-Lormian M.
- Barbey
- Barbey
- Barcelona
- Barfucci E.
- Bari
- Barinaga Graciella
- Baroja Pio J. A.
- Barreda Ernesto Mario P.
- Barrelle G.
- Barres Maurice
- Barres Maurice
- Barres Maurice
- Barres Maurice
- Barres Maurice
- Barreto Tobias H.
- Barrett L. L.
- Barzizza Gasparino B.
- Basurto Fernando
- Batacchi Domenico Luigi L.
- Battistini M.
- Battlori M.
- Baudelaire
- Baudelaire
- Baudelaire J.
- Baudin M.
- Baudin M.
- Bayet A.
- Bayle Pierre
- Bazan A.
- Bde
- Bde
- Beccadelli Antonio A.
- Becquer Gustavo Adolfo J. A.
- Beio J. M.
- Beitran de Heredia V.
- BeitrÀn O. R.
- Bell A. F. G.
- Benaglio Ines B.
- Benavente Jacinto R. K.
- Benda Julien L.
- Benedeit E.
- Benedetto L
- Benini R.
- Bennett R. E.
- Beranger Pierre-Jean C.
- Berchet Giovanni F.
- Berga J.
- Bergson Henri G.
- Bergson Henri G.
- Berlin
- Berliner
- Bernardin de Saint-Pierre C. W.
- BernÀldez Andres R.
- Berry Ana M.
- Berthon S.
- Bertini G. M.
- Bertoni G.
- Bertoni G.
- Bertoni G.
- Betteloni Vittorio G.
- Biarguren C.
- Bibl
- Bibl
- Bibl
- Bibl S
- Bibl S
- Biblioteca de Cultura S
- Bieler L.
- Biiffon Georges-Louis
- Bilder
- Bilder
- Binni
- Binni
- Blasco Ibanez Vicente
- Bluteau R.
- Bobbio A.
- Boccaccio Giovanni II
- Boccalini Ph. H.
- Bockmann H.
- Bocquet L.
- Bodlin Jean J. L.
- Boer Josephine
- Boggs R. S.
- Bohigas Pere
- Boiardo Matteo Maria
- Boileau Nicolas
- Boine Giovanni
- Bologna
- Bombasi Gabriele G.
- Bonaccorsi A.
- Bond D. F.
- Bond D. F.
- Bonnard A.
- Bonnard M.
- Bonnes C.
- Bontempelli M.
- Bonvesin da Riva G.
- Borgese G. A.
- Bosco U.
- Bottiglioni G.
- Bourget Paul A.
- Bourget Paul W. C.
- Bourget Paul W. C.
- Boutemy A.
- Bouvier R.
- Brackmann A.
- Branca V.
- Brasutti R.
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- Brenes-Meseii R.
- Breton de los Herreros S. E.
- Brie F.
- Brieux Eugene P. V.
- Broiiillet F.
- Bronzini
- Brosses Charles
- Bruers A.
- Bruerton C.
- Bruerton C.
- Brunetiere Ferdinand J.
- Bruxelles
- Bude Jean E.
- Buenos Aires
- Bullock W. L
- Buonarroti Michelangelo M.
- Buonocore O.
- Bush W. T.
- BĂ€nninger K.
- Bökenkamp W.
- BĂŒck A.
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- Cabot J.
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- Caillet-Bois J.
- Calcaterra
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- Camego Evaristo M.
- Camenisch Nina F.
- Camp J.
- Camöes I
- Cancionero J.
- Canzune
- Capasso A.
- Capdevila A.
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- Capela
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- Carrara
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- Carreras Artau
- Cart A.
- Cartorio do Mosteiro
- Carvalho Vicente
- Casella M.
- Castillo Solorzano Alonso
- Castro A.
- Castro Alava J. R.
- Castro Leal
- Catalogue
- Cazamian L.
- Cazaux J.
- Cazotte Jacques A.
- Cazotte Jacques A.
- Cellucci L.
- Cernuda Luis
- Cervantes Miguel
- Champion E.
- Chapelain Jean A. J.
- Chapman C. O.
- Charles M.
- Charlier G.
- Charriere Mme
- Chateaubriand Frangois Rene
- Chateaubriand Frangois Rene
- Chiesa Francesco G.
- Chiri G.
- Chrestien
- Chrestien de Troyes C.
- Ci
- Cian
- Cian
- Cianciolo U.
- Cilley M. A.
- Claramonte Andres
- Class
- Class
- Classiques
- Classiques Garnier
- Claude Fauchet
- Cloetta G. G.
- Cocchiara G.
- Colbura G. B.
- Colucci daPistoia
- Comte Auguste J.
- Comte Auguste J.
- Condorcet M.
- Conferenze
- Consistance de Voltaire
- Consistance de Voltaire
- Conti Angelo B.
- Contini G.
- Contrerae J.
- Corazzini Sergio
- Corneille Pierre A.
- Corneille Pierre E.
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- Costa M.
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- Coutinho A. B.
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- Croce
- Croce B.
- Croce B.
- Croce B.
- Croce B.
- Croce B.
- Croce B.
- Croce B.
- Croce B.
- Cronia A.
- Cronicas
- Crow J. .
- Cruz Varela Juan R. F.
- Cubillo de Aragon Ălvaro E.
- Cuerro R. J.
- Cueva
- Cuiot de Proving H.
- Culture
- Curtius E. R.
- Cysarz H.
- D'Annunzio Gabriele
- D'Annunzio Gabriele
- D'Annunzio Gabriele
- D'Arezzo L. M.
- DamiÀo de Gois M.
- Daniel-Rops
- Daniel-Rops
- Darnet A
- Darnet A.
- Daudet LeOn
- Davies R. T.
- de Corte
- De Gubernatis Angelo B.
- De Mattel R.
- De Sanctis Francesco
- Dean Ruth J.
- Decamerone
- Decurtins C. C.
- Delille Jacques J.
- Delille Jacques J.
- Denis S.
- Denon Dominique-Vivant H. J.
- Deschamps Antony E.
- Desjardins Hortense B. A.
- Dettore U.
- Di Pino
- Diaz del Castillo Bernal
- Dickmann Max H. P.
- Diderot Denis
- Diderot Denis H.
- Diez de Medina F.
- Distelbarth P.
- Dizionario
- Dmnbruch Emmi
- Documents
- Documents
- Donadoni A.
- Donoso Cortes Juan Maria A.
- Douglas F.
- Dovizi da Bibbiena Bernardo A.
- Dramen
- Droz E
- Du
- Du Bös Ch E.
- Du Vair Guillaume H.
- Dumur Louis
- Durante G.
- Echeverria Esteban R.
- Echeverria Esteban R.
- Edman J.
- EetrelJa Gutierrez F.
- Ehrhardt A.
- Eicke W. A.
- Eicke W. A.
- El
- Elwert Th
- Engrava E.
- Entwistle W. J.
- Erckmann-Qiatrian P.
- Erni Hs
- Erro C. A.
- Esclasans Agusti F.
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- Espinosa Pout A.
- Espronceda Joso
- Esquilache Francisco
- Essai
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- Fabbrini da Figline Giovanni F.
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- Fabre-Luce B.
- Fabri
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- Faiguet
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- Falgairolle A.
- Falkenhausen Fr
- Falqui E.
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- Fattorello F.
- Faure Gabriel Ch.
- Fava Guido G.
- Feibleman J.
- Felgueiras G.
- Fernandez Almuzara E.
- Fernandez J. E.
- Fernandez Moreno Baldomero
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- Ferraris M.
- Ferreira de Vasconcellos Jörge K.
- Ferreira J.
- Ferrero
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- Ferretti
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- Figueiredo F.
- Fink R.
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- Firenze
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- Fletcher J. B.
- Floire
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- Folquet de Marseilla A.
- Fontaine G.
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- Fontana Gian T.
- FonteneHe Bernard
- Fraccacreta Umberto Y.
- Fraga Ventura E.
- Francesco S.
- Francisco Quevedo
- Franck W.
- Frank Grace
- Franz M.
- Freyre Gilberto L.
- Friedrich
- Froissart Jean H.
- Froissart Jean H.
- Furetiere Antoine E. E.
- Gabriel A.
- Gabriele
- Gabriele
- Gaeta Francesco B.
- Gaeta Giovanni G.
- Gaillard J.
- Gaimar A.
- Gallegos Romulo A.
- Galletti A.
- Gamillscheg
- Gan V.
- Gana Federico D.
- Gandon Y.
- Ganter P.
- Garcia Calderon Ventura
- Garcilaso de la Vega Inca
- Garganta Josep Maria
- Garin
- Gasparetti A.
- Gatti A.
- Gatti J. F.
- Gautier de Coinci E.
- Gay-Calbo E.
- Gcognani Bruno
- Gdade H.
- Gegenwartsdichtung
- Gentile G.
- Gereon Jean E.
- Gesammelte AufsÀtze Bd.
- Gesellschaft
- Giacomo G.
- Gil Reicher Mme
- Gilbert A. H.
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- Gillies A.
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- Giorgiantonio M.
- Giraud Jeanne
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- Gnoli Domenico
- Gnti D.
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- Gomes Eanes
- Gomez Restrepo A.
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- Gongora Luis
- Gongora Luis
- Gongora Luis
- Gonzalez
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- Gonzalez del Valle J. Z.
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- Gonzalo de Berceo B. E.
- Gordon D. J.
- Gougenheim
- Gougenheim
- Goulart de Andrade Joso Maria
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- Grammont M.
- Green O. H.
- Gregoire A.
- Gregoire A.
- Gregor J.
- Grenier J.
- Gripkey M
- Groningen
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- Gueullette Thomas Simon
- Gueullette Thomas Simon
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- GĂŒiraldes Ricardo B.
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- Haack G.
- Hackmann R.
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- Halle
- Hancke K.
- Hanse
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- Harvard Studies S
- Hatzfeld H.
- Hatzfeld H.
- Haubrich S.
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- Hernandez Jose
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- In Revue Argentine
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- Index
- Inguanez D. M.
- Istit
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- Italia
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- Italienische Dichtung
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- Johns Hopkins Studies
- Johns Hopkins Studies S
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- La Bruyere Jean
- La Calprenede M.
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- La Fouchardiere Georges
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- Labrousse R.
- Lacretelle Jacques
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- Lettres
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- Wissenschaftliche Quellen
- Witte Martha
- Wittlin A.
- Wolff Max J.
- Xavier A. J.
- Yallis M.
- Yepez Miranda
- Zanella Giacomo
- Zanella Giacomo A.
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- zu Pfandl
- Zurita Jeronimo G.
- °o
- ·« G.
- Ălt A.
- ÎÎż
- âŹautier ΀ηÎÎżÏÎÎÎČ R.
- Publication venue
- 'Walter de Gruyter GmbH'
- Publication date
- 01/01/1943
- Field of study