11 research outputs found
Die anorganischen Bestandteile der Placenta
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1957
- Field of study
A study of the responses of mentally retarded children on the Leiter international performance scale. - Page 46
- Author
- A Hopwood
- A Hopwood
- A Hopwood
- A Hopwood
- A Hopwood
- A Hopwood
- A Hopwood
- A Hopwood
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- C Mannich
- C Mannich
- DD Slyke van
- E Abderhalden
- E Abderhalden
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- E Abderhalden
- E Abderhalden
- E Abderhalden
- F Wrede
- F Wrede
- F Wrede
- F Wrede
- H Fischer
- JT Bornwater
- JT Bornwater
- L. C. Maillard
- LC Maillard
- O Eisler
- P Bergell
- P Bergell
- P Bergell
- P Bergell
- P Bergell
- P Bergell
- P Pfeiffer
- P Pfeiffer
- PA Kober
- PA Kober
- PA Kober
- PA Kober
- PA Kober
- PA Kober
- PA Kober
- PA Kober
- S Levites
- T Jona
- T Jona
- T Jona
- T Jona
- T Sasaki
- T Sasaki
- T Sasaki
- T Sasaki
- T Sasaki
- T Sasaki
- T Sasaki
- T Sasaki
- W Suida
- Publication venue
- Publication date
- 01/01/1915
- Field of study
Über chemische Altersveränderungen der menschlichen Placenta und ihre Beziehungen zum Problem des Geburtseintrittes
- Author
- C. Fürth v.
- E. Lönne
- E. M. Kurdinowsky
- E. M. Kurdinowsky
- F. Grandis
- F. Sauerbruch
- Fr. Samuely
- G. Ballerini
- G. Schickele
- Grosser
- H. A. Koelker
- H. Guggisberg
- Hüssy-Uhlmann
- J. Hofbauer
- J. Hofbauer
- Karl Grube
- L. Blumreich
- Lochemann
- M. Savarè
- Pregl
- R. Ehrenberg
- R. Ehrenberg
- S. Higuchi
- S. Higuchi
- Taltavall
- Th. Franz
- W. Zangenmeister
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Eiweißverbindungen
- Author
- A. Friedrich
- A. Hynd
- C. C. Lucas
- D. D. van Slyke
- E. Abderhalden
- E. J. King
- E. Kataoka
- E. Montignie
- E. Schultze
- Emil Fischer
- F. Fromm
- G. Kollmann
- G. Weller
- Gösta Widström
- H. Barnes
- H. D. Baernstein
- H. D. Dakin
- H. Fujiwara
- J. H. W. Lugg
- K. Spiro
- L. Binet
- M. G. Mc Farlane
- M. X. Sullivan
- Mary A. B. Brazier
- Morner
- N. Bulgakow
- O. Fürth
- O. Gerngross
- O. Kestner
- Osborne
- P. A. Levene
- R. A. Peters
- R. H. Aders
- R. School
- Regine Kapeller-Adler
- T. Caspersson
- W. C. Hess
- W. Deseke
- W. F. Koelker
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Aminosäuren (Bd. IV, S. 361)
- Author
- A Albert
- A Albert
- A Berthelot
- A Berthelot
- A Berthelot
- A Berthelot
- A Berthelot
- A Berthelot
- A Berthelot
- A Berthelot
- A Berthelot
- A Berthelot
- A Berthelot
- A Berthelot
- A Berthelot
- A Berthelot
- A Berthelot
- A Colombano
- A Colombano
- A Colombano
- A Colombano
- A Darapsky
- A Homer
- A Homer
- A Homer
- A Homer
- A Kiesel
- A Korsel
- A Kossel
- A Kossel
- A Kossel
- A Kossowicz
- A Kossowicz
- A Kossowicz
- A Kossowicz
- A Kossowicz
- A Kossowicz
- A Kossowicz
- A Kossowicz
- A Oswald
- A Oswald
- A Oswald
- A Oswald
- A Oswald
- A Pictet
- A Pictet
- A Rollet
- A Rossel
- A Schittenhelm
- A Siuva
- A Siuva
- A Stieger
- A Stieger
- A Stieger
- A Suura
- A Suwa
- A Suwa
- A Suwa
- AA Epstein
- AA Epstein
- AA Epstein
- AA Epstein
- AA Epstein
- AA Epstein
- Ackermann
- Ackermann
- Ackermann
- AD Dakin
- AH Hoelker
- AH Hoelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AH Koelker
- AJ Ewins
- AJ Ewins
- AJ Ewins
- AJ Ringer
- AJ Ringer
- AJ Ringer
- AJ Ringer
- AJ Ringer
- AJ Ringer
- AJ Ringer
- AJ Ringer
- AJ Ringer
- AJ Ringer
- AJ Ringer
- AJ Ringer
- AJ Ringer
- AJ Ringer
- AJ Ringer
- AJ Ringer
- Aronson
- AW Dox
- AW Dox
- AW Dox
- AW Dox
- B Sjollema
- B Sjollema
- B Sjollema
- B Sjollema
- B Sjollema
- B Sjollema
- B Sjollema
- B Sjollema
- B Sjollema
- B Sjollemer
- Baumert
- Bergmann
- Boussingault
- C Funk
- C Funk
- C Funk
- C Funk
- C Funk
- C Mannich
- C Mannich
- C Mannich
- C Mannich
- C Mannich
- C Mannich
- C Neuberg
- C Neuberg
- C Neuberg
- C Neuberg
- C Neuberg
- C Neuberg
- C Neuberg
- C Neuberg
- C Neuberg
- C Neuberg
- C Neuberg
- C Neuberg
- C Pekter
- C Reuter
- C Reuter
- C Reuter
- C Reuter
- C Reuter
- C Reuter
- C Reuter
- C Reuter
- C Reuter
- CA Brautlecht
- CA Brautlecht
- CA Brautlecht
- CA Brautlecht
- CA Brautlecht
- CA Brautlecht
- CA Brautlecht
- CA Brautlecht
- CC Brautlecht
- CC Brautlecht
- CH Clarke
- CJ Blanksma
- CJ Blanksma
- CS Robinson
- CS Robinson
- CT Mörner
- CT Mörner
- CT Mörner
- CT Mörner
- CT Mörner
- CT Mörner
- CT Mörner
- CT Mörner
- CY Suzuki
- CY Suzuki
- CY Suzuki
- CY Suzuki
- CY Suzuki
- CY Suzuki
- CY Suzuki
- CY Suzuki
- CY Suzuki
- CY Suzuki
- D Ackermann
- D Ackermann
- D Ackermann
- D Ackermann
- D Ackermann
- D Ackermann
- D Ackermann
- D Ackermann
- D Ackermann
- D Ackermann
- D Ackermann
- D Fuchs
- D Fuchs
- D Ganassini
- D Ganassini
- D Ganassini
- D Ganassini
- D Ganassini
- D Klein
- D Klein
- DD Slyke van
- DD Slyke van
- Dittmar
- Dittmar
- DJ Meijeringh
- DJ Meijeringh
- DJ Meijeringh
- DJ Meijeringh
- E Abderhalden
- E Abderhalden
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- E Abderhalden
- E Abderhalden
- E Abderhalden
- E Abderhalden
- E Bödtker
- E Fischer
- E Fischer
- E Fischer
- E Fischer
- E Fischer
- E Fischer
- E Fischer
- E Fischer
- E Fischer
- E Fischer
- E Fisoher
- E Friedberger
- E Friedberger
- E Friedemann
- E Friedmann
- E Friedmann
- E Friedmann
- E Friedmann
- E Friedmann
- E Herzfeld
- E Herzfeld
- E Kayser
- E Kayser
- E Knaffl-Lenz v.
- E Mellanby
- E Mellanby
- E Meyer v.
- E Meyer v.
- E Pfaehler
- E Pfaehler
- E Schmidt
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Schulze
- E Wechsler
- E Wechsler
- E Wechsler
- E Wechsler
- E Winterstein
- E Winterstein
- EA Fubini
- EA Fubini
- EK Marshall
- EL Backman
- Engelhardt
- EW Foreman
- EW Foreman
- F Ehrlich
- F Ehrlich
- F Ehrlich
- F Ehrlich
- F Ehrlich
- F Ehrlich
- F Ehrlich
- F Ehrlich
- F Ehrlich
- F Ehrlich
- F Fischler
- F Hoffmann
- F Knoop
- F Knoop
- F Knoop
- F Sachs
- F Traetta-Mosca
- F Ullmann
- F Ullmann
- F Weiß
- F Weiß
- F Weiß
- F Wrede
- FA Dermok
- FA Dermok
- FB Power
- FC Koch
- FC Koch
- FG Hopkins
- FG Hopkins
- FG Hopkins
- FG Hopkins
- FG Hopkins
- FG Hopkins
- FG Hopkins
- FG Hopkins
- FG Hopkins
- FG Hopkins
- FG Hopkins
- FG Hopkins
- FG Hopkins
- FL Pyman
- FL Pyman
- FL Pyman
- FL Pyman
- FL Pyman
- FL Pyman
- Folin
- Folin
- Frankfurt
- Frankfurt
- Frankfurt
- Frankfurt
- FW Foreman
- FW Foreman
- FW Foreman
- FW Foreman
- FW Foreman
- FW Foreman
- FW Foreman
- FW Foreman
- FW Foreman
- FW Foreman
- FW Foreman
- FW Foreman
- FW Foreman
- FW Foreman
- FW Foreman
- FW Foreman
- FW Foreman
- FW Foreman
- FW Foreman
- FW Foreman
- FW Strauch
- FW Strauch
- FW Strauch
- FW Strauch
- FW Strauch
- FW Strauch
- FW Strauch
- FW Strauch
- FW Strauch
- G Barger
- G Barger
- G Buglia
- G Buglia
- G Buglia
- G Buglia
- G Buglia
- G Buglia
- G Ciamician
- G Ciamician
- G Embden
- G Embden
- G Embden
- G Embden
- G Forssner
- G Forssner
- G Friedl
- G Friedl
- G Galeotti
- G Goldschmiedt
- G Goldschmiedt
- G Roose
- G Roose
- G Roose
- G Roose
- G Roose
- G Roose
- G Totani
- Gonnermann
- H Agulhon
- H Blau
- H Blau
- H Blau
- H Buchtala
- H Buchtala
- H Buchtala
- H Buchtala
- H Buchtala
- H Buchtala
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- H Buchtala
- H Buchtala
- H Buchtala
- H Buchtala
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- H Buchtala
- H Buchtala
- H Buchtala
- H Buchtala
- H Buchtala
- H Buchtala
- H Buchtala
- H Buchtala
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- H Buchtala
- H Buchtala
- H Buchtala
- H Buchtala
- H Buchtala
- H Buchtala
- H Buchtala
- H Fasal
- H Fasal
- H Fasal
- H Fasal
- H Fellner
- H Franzen
- H Franzen
- H Franzen
- H Franzen
- H Ito
- H Ito
- H Kurono
- H Kurono
- H Leuchs
- H Leuchs
- H Ley
- H Ley
- H Ley
- H Ley
- H Ley
- H Ley
- H Ritthausen
- H Ritthausen
- H Scheibler
- H Scheibler
- H Scneibler
- H Steenbock
- H Steudel
- H Yoshimura
- H Yoshimura
- H Zeller
- H Zeller
- H Zeller
- HB Lewis
- HB Lewis
- HD Dakin
- HD Dakin
- HD Dakin
- HD Dakin
- HD Dakin
- HD Dakin
- HD Dakin
- HD Dakin
- HD Dakin
- HD Dakin
- HD Dakin
- HD Dakin
- HD Dakin
- HD Dakin
- HD Dakin
- HD Dakin
- HD Dakin
- HD Dakin
- Henry
- HL Wheeler
- HL Wheeler
- HL Wheeler
- HL Wheeler
- HL Wheeler
- HL Wheeler
- HL Wheeler
- HL Wheeler
- HL Wheeler
- Huenefeld
- HW Bywaters
- HW Bywaters
- J Braun v.
- J Effront
- J Effront
- J Effront
- J Effront
- J Effront
- J Effront
- J Houben
- J Kotake
- J Kotake
- J König
- J König
- J König
- J König
- J König
- J König
- J König
- J Mauthner
- J Mauthner
- J Novak
- J Novak
- J Novák
- J Novák
- J Novák
- J Novák
- J Novák
- J Novák
- J Novák
- J Novák
- J Scheiber
- J Scheiber
- J Scheiber
- J Scheiber
- J Scheiber
- J Scheiber
- J Scheiber
- J Scheiber
- J Scheiber
- J Wirth
- JE Sweet
- JE Sweet
- JJ Blanksma
- JJ Blanksma
- JT Bornwater
- JT Bornwater
- JT Bornwater
- JT Bornwater
- JT Bornwater
- JT Bornwater
- K Fromherz
- K Inouye
- K Inouye
- K Inouye
- K Kato
- K Kato
- K Kondo
- K Kondo
- K Kondo
- K Kondo
- K Kondo
- K Kondo
- K Kurono
- K Kurono
- K Kurono
- K Kurono
- K Langheld
- K Loch
- K Lock
- K Lock
- K Miyake
- K Miyake
- K Miyake
- K Miyake
- K Miyake
- K Miyake
- K Miyake
- K Miyake
- K Polstorff
- K Yoshimura
- K Yoshimura
- K Yoshimura
- K Yoshimura
- K Yoshimura
- K Yoshimura
- K Yoshimura
- K Yoshimura
- K Yoshimura
- K Yoshimura
- KG Falk
- KG Falk
- Knopf
- L Blum
- L Böhm
- L Hamlin
- L Hugounenq
- L Lewin
- L Michaelis
- L Michaelis
- L. C. Maillard
- Landw
- Landw
- LC Maillard
- Leroy
- Link
- M Godehot
- M Guggenheim
- M Guggenheim
- M Molliard
- M Molliard
- M Piekre
- M Piettre
- M Siegfried
- M Siegfried
- M Siegfried
- M Siegfried
- M Siegfried
- M Siegfried
- M Siegfried
- M Siegfried
- M Siegfried
- M Siegfried
- M Siegfried
- M Siegfried
- M Siegfried
- M Siegfried
- M Siegfried
- Mandel
- ML Hamlin
- ML Hamlin
- ML Hamlin
- ML Hamlin
- ML Hamlin
- MW Beijerinck
- MW Beijerinck
- N Monti
- N Monti
- N Mutch
- N Mutch
- N Mutch
- N Mutch
- N Mutch
- N Mutch
- N Zelinsky
- N Zelinsky
- N Zelinsky
- N Zelinsky
- N Zelinsky
- Neuberg
- Neuberg
- NT Deleano
- O Cohnheim
- O Folin
- O Folin
- O Folin
- O Folin
- O Folin
- O Fürth v.
- O Neubauer
- O Schreiner
- O Schreiner
- O Schreiner
- O Schreiner
- O Schreiner
- P Bergell
- P Breteau
- P Glagolew
- P Glagolew
- P Juge
- P Juge
- P Pfeiffer
- P Pfeiffer
- P Pfeiffer
- P Pfeiffer
- P Pfeiffer
- P Pfeiffer
- P Reiner
- P Thomas
- P Thomas
- P Thomas
- P Waentig
- P Waentig
- P Waentig
- P Waentig
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- Portes
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- Regimbeau
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- Schulze
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- Shorey
- Shorey
- Shorey
- Shorey
- Stift
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- Suzuki
- Suzuki
- Suzuki
- Suzuki
- Suzuki
- Suzuki
- Suzuki
- T Hryntschak
- T Hryntschak
- T Kikkoji
- T Kikkoji
- T Panzer
- T Panzer
- T Panzer
- T Panzer
- T Panzer
- T Panzer
- T Sasaki
- T Takahashi
- T Takahashi
- T Takahashi
- T Takahashi
- T Takahashi
- T Takahashi
- T Takahashi
- T Takahashi
- T Takahashi
- T Takahashi
- T Takahashi
- T Takahashi
- T Takahashi
- T Takahashi
- T Takahashi
- T Takahashi
- T Takahashi
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- V Arnold
- V Henriques
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- V Henriques
- V Kotake
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- Vauquelin
- VI Staněk
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- W Brasch
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- Z Mirumoto
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- Ö Stift
- Ö Stift
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1915
- Field of study
Erstes Kapitel
- Author
- 7 Bidder F. und Schmidt
- 8 Prinz H
- A Desgrez
- A Gottschalk
- A Hymanson
- A Magnus-Levy
- A Reissner
- A Scheunert
- A simple method of estimating the salivary urea
- AH Koelker
- AH Koelker
- Allaria
- Alle Arbeiten von Marshall sind revidiert in Marshall J. A.
- AP Sellheim
- AT Snarski
- BP Babkin
- Brettel C.
- Budge
- C Bernard
- C Eckhard
- C Evans
- C Nicory
- C Oppenheimer
- C Oppenheimer
- CG Mitscherlich
- CG Mitscherlich
- CH Neilson
- CH Neilson
- Cohoe
- CP Richter
- Derselbe und Hofmeister
- DS Fursikow
- E Carazzani
- E Pflüger
- E. Tezner
- EA Schäfer
- Ellenberger
- F Hammerbacher
- F Lickint
- F Lickint
- F Smities
- G Colin
- G Hirata
- G Solin
- GW Volborth
- H Davidson
- H Dreyerre
- H Prinz
- H Updegraff
- H Updegraff
- H Walker
- H. E. Starr
- H. Updegraff
- HC Ferris
- HC Smith
- Heymann N. M.
- HP Pickerill
- HW Schmitz
- IS Zitowitsch
- J Loeb
- J Sacchetto
- J Siebold
- J Zakrewska
- J. A. Marshall
- J. Breunemann
- J. Markoff
- J. R. McClelland
- JA Marshall
- JA Marshall
- JA Marshall
- Jaenicke A.
- JK Calvin
- JL Morris
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- JL Morris
- JM Flint
- JR Mcclelland
- K Lashley
- Kulz
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- L Ordenstein
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- LAI Maxwell
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- NA Gourevitsch
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- Ordenstein
- P Borisow
- Popielski
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- R Heidenhain
- R Metzner
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- S Dezani
- Scheunert und Trautmann
- Scheunert und Trautmann
- Scheunert A. und Trautmann, A.
- Schwann
- Schäfer and Moore
- SG Wulfson
- Siehe auch Lunze
- T Nakagawa
- T Nakagawa
- T. Sanctis-Monaldi
- T1ber die Entstehung der Speichelkörperchen siehe Hammerschlag, R.
- Tolotschinoff
- Updegraff H. and Lewis, Siehe Literatur bei H
- V Zebrowski
- v. Wittich
- VR Carlson
- W Jakobi
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- WE Garrey
- WJ Gies
- Wulfson
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- Zebrowski
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- Zebrowski
- Ältere Literatur über Rhodan siehe bei Moore B.
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1928
- Field of study
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders : on the basis of information from a European multicenter registry
- Author
- Alves S.
- Arnaudo F.
- Augoustides-Savvopoulou P.
- Avram P.
- Baric Ivo
- Baumgartner M. R.
- Blasco-Alonso J.
- Bosch A.
- Burgard Peter
- Burlina A. B.
- Cano A.
- Chabrol B.
- Chakrapani A.
- Chapman Kimberly A.
- Chien Y. -H.
- Cortes i Saladelafont E.
- De Laet C.
- de Lonlay P.
- de Meirleir L.
- Deleanu C.
- Dionisi-Vici C.
- Djordjevic M.
- Dobbelaere D.
- Eyskens Fran\ue7ois
- Freisinger P.
- Garcia Cazorla A.
- Gleich Florian
- Grunewald S.
- Haberle J.
- Hoerster F.
- Honzik T.
- Hwu W. -L.
- Jalan A.
- Jelsig A. M.
- Karall D.
- Koelker Stefan
- Lachmann R.
- Leao-Teles E.
- Lee N. -C.
- Legros V.
- Lindner M.
- Luesebrink N.
- Lund Allan M.
- Martinelli D.
- Matsumoto S.
- Mention K.
- Molema Femke
- Morris A.
- Muehlhausen C.
- Nassogne M. C.
- Ortega D. G.
- Pena-Quintana L.
- Posset R.
- Rubert L.
- Sarajlija A.
- Schiff M.
- Scholl-Buergi S.
- Sokal E.
- Summar Marshall L.
- Sykut-Cegielska J.
- Thompson N.
- van der Ploeg Ans T.
- Vara R.
- Vives-Pinera I.
- Wijburg F. A.
- Williams Monique
- Wisniewska A.
- Zeman J.
- Publication venue
- Publication date
- 01/01/2019
- Field of study
Chemical Development in utero
- Author
- Adler K.
- Bezold A.
- Bezold A.
- Booher L.E.
- Briuckmann G.
- Brubacher H.
- C. M. Spray
- Camerer Jr, W.
- Coons C.M.
- Crosse V.M.
- E. M. Widdowson
- Ekholm E.
- Fehling H.
- Fellers F.X.
- Fullerton H.W.
- Garry R.C.
- Giacosa G.
- Givens M.H.
- Gladstone S.A.
- Harrison H.E.
- Harvey C. 0
- Higuchi S.
- Hilgenberg F.C.
- Hugounenq M.L.
- Hugounenq M.L.
- Ibid
- Koelker A.H.
- Lange C.de
- Langstein L.
- Macy I.G.
- Masters M.
- McCance R.A.
- McCance R.A.
- Michel C. (1899). C. R
- Pratt J.P.
- Pratt J.P.
- Schairer E.
- Shohl A.T.
- Spray C.M.
- Stearns G.
- Steinitz F.
- Streeter G.L.
- Thomas K.
- Toverud K.U.
- Venn J.A.J.
- Widdowson E.M.
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Fermente
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- CJ Martin
- CJC Hoogenhuyze van
- CJC Hoogenhuyze van
- CJC Hoogenhuyze van
- CL Alsberg
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- CL Bliss
- CL Bliss
- CL Gatin
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- CS Hudson
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- D Axenfeld
- D Calugareanu
- D Hirata
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- D Rywosch
- D Spence
- D Spence
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- E Abderhalden
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- E Abderhalden
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- E Abderhalden
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- E Abderhalden
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- E Abderhalden
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- E Abderhalden
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- E Bourquelot
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- G Bergmann von
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- H Bierry
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- H Bierry
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- K Aso
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- N Afonski
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- P Achalme
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- P Haacke
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- T Araki
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- WN Berg
- WN Berg
- WN Boldireff
- WN Boldireff
- WN Okunew
- WN Okunew
- WR Dunstan
- WR Dunstan
- WS Dzierzgowski
- WT Gies
- WT Longcope
- WW Bialosuknia
- WW Bialosuknia
- WW Bialosuknia
- WW Biasoluknia
- WW Sawitsch
- WW Sawitsch
- WW Sawjalow
- WW Sawjalow
- WW Sawjalow
- WW Sawjalow
- X Roques
- X Roques
- X Roques
- X Roques
- Y Fürst
- Y Harlay
- Y Oguro
- Y Oguro
- Y Oguro
- Z Dalmady von
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1911
- Field of study
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
- Author
- A Finocchi
- A Nakai
- A Terman
- A Williams
- AK Ganesan
- AL Portbury
- Amber E ten Hoedt
- Ay Lin Kho
- B Levine
- Birgit Brandmeier
- Carlo Dionisi-Vici
- Caroline A Sewry
- CD Vici
- Christian Koerner
- Christian Windpassinger
- D Schmid
- D Selcen
- David Manchester
- DC Rubinsztein
- DJ Cao
- DJ Klionsky
- DJ Klionsky
- DJ Klionsky
- Doriette Soler
- Dragana Josifova
- E Fujita
- E Masiero
- E Said
- Elizabeth Said
- Enrico Bertini
- Frances Smith
- Francis M Filloux
- Frits A Wijburg
- Georg F Hoffmann
- GM Fimia
- H Li
- Hans-Hilmar Goebel
- Heinz Jungbluth
- HH Pua
- I Nishino
- Istvan Bodi
- JD Lünemann
- Jozef Hertecant
- K Li
- K Nishida
- KE Heath
- L Edström
- M Al-Owain
- M del Campo
- M Sandri
- M Taneike
- Masaharu Hayashi
- Mathias Gautel
- MC Maiuri
- Michael A Simpson
- Miguel Del Campo
- Mohammed Al-Owain
- N Halama
- N Mizushima
- N Mizushima
- Peter M Kroisel
- R Curtis Rogers
- R Miyata
- Rie Miyata
- S Di Bartolomeo
- S Lange
- S Perera
- S Schiaffino
- S Waters
- Salwa Al-Kaabi
- Shehla Mohammed
- Shu Yau
- Stefan Buk
- Stefan Koelker
- Stephen Abbs
- T Chiyonobu
- T Fukuda
- T Sjöblom
- T Tra
- Thomas Cullup
- V Kirkin
- V McClelland
- Verity McClelland
- W Li
- WM Obermann
- Y Tian
- Y Zhang
- Zoe Urry
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2013
- Field of study
Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. To investigate the molecular basis of Vici syndrome, we carried out exome and Sanger sequence analysis in a cohort of 18 affected individuals. We identified recessive mutations in EPG5 (previously KIAA1632), indicating a causative role in Vici syndrome. EPG5 is the human homolog of the metazoan-specific autophagy gene epg-5, encoding a key autophagy regulator (ectopic P-granules autophagy protein 5) implicated in the formation of autolysosomes. Further studies showed a severe block in autophagosomal clearance in muscle and fibroblasts from individuals with mutant EPG5, resulting in the accumulation of autophagic cargo in autophagosomes. These findings position Vici syndrome as a paradigm of human multisystem disorders associated with defective autophagy and suggest a fundamental role of the autophagy pathway in the immune system and the anatomical and functional formation of organs such as the brain and hear