8 research outputs found
Delineation of cystinuria in Saudi Arabia: A case series
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria
- Author
- A Chatzikyriakidou
- A Chatzikyriakidou
- A Chatzikyriakidou
- A Chatzikyriakidou
- C Schmidt
- C Schmidt
- E Botzenhart
- E Brauers
- F Tanzer
- J Chillar贸n
- JK Endsley
- K Popovska-Jankovic
- K-I Egoshi
- L Bisceglia
- L Feliubadal贸
- L Harnevik
- L Harnevik
- L Koulivand
- M Akhavan sepahi
- M Barbosa
- M Font
- MH Kheradpir
- MJ Calonge
- P Gasparini
- P Saravakos
- S Kummer
- T Eggermann
- T Eggermann
- WL Gitomer
- Y Shigeta
- Y Yuen
- Z 艩kopkov谩
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Molecular characterization of cystinuria in south-eastern European countries
- Author
- A Albers
- C Schmidt
- D Dayangac
- E Botzenhart
- E Brand
- E Pras
- EV Ball
- F Tanzer
- GD Efremov
- I Saadi
- IA Adzhubei
- International Cystinuria Consortium
- J Chillaron
- JK Endsley
- K Popovska-Jankovic
- L Bisceglia
- L Bisceglia
- L Bisceglia
- L Dello Strologo
- L Feliubadalo
- L Harnevik
- L Rosenberg
- M Font-Llitjos
- M Guillen
- M Palacin
- M Palacin
- M Palacin
- M Perna Di
- MJ Calonge
- P Gasparini
- R Wartenfeld
- RG Wells
- RG Wells
- S Segal
- T Eggermann
- T Peters
- WL Gitomer
- YP Yuen
- Z Gucev
- Z Skopkova
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/02/2013
- Field of study
Cystinuria is an autosomal recessive disorder caused by defective transport of cystine and dibasic amino acids in the proximal renal tubules and small intestine. So far, more than 128 mutations in SLC3A1 gene, and 93 in SLC7A9 gene have been described as a cause of cystinuria. We present a molecular characterization of the cystinuria in 47 unrelated south-east European families. The molecular methodology included direct sequencing, single strand conformational polymorphism, and restriction fragment length polymorphism. A total of 93 (94.9 %) out of 98 unrelated cystinuric chromosomes have been characterized. Mutations in SLC3A1 gene account for 64.3 % and in SLC7A9 gene for 30.6 % of the cystinuric chromosomes. Ten different mutations in SLC3A1 gene were found, and two of them were novel (C242R and L573X), while in SLC7A9 gene seven mutations were found, of which three were novel (G73R, V375I and c. 1048_1051delACTC). The most common mutations in this study were T216M (24.5 %), M467T (16.3 %) and R365L (11.2 %) in SLC3A1 and G105R (21.4 %) in SLC7A9 gene. A population specificity of cystinuria mutations was observed; T216M mutation was the only mutation present among Gypsies, G105R was the most common mutation among Albanians and Macedonians, and R365L among Serbs. The results of this study allowed introduction of rapid, simple and cost-effective genetic diagnosis of cystinuria that enables an early preventive care of affected patients and a prenatal diagnosis in affected families
Strongly nonlinear instationary interaction
- Author
- A Giurdin Serveniere-Heron
- A Raven
- AY Wong
- AY Wong
- C Max
- D Anderson
- D Forslund
- DT Attwood
- DW Forslund
- DW Phillion
- E Valeo
- GD Enright
- GH McCall
- GJ Morales
- GL Morales
- H Azechi
- HC Kim
- HH Chen
- J Virmont
- JC Adam
- JP Boris
- JR Sanmartin
- JS DeGroot
- K Baumg盲rtel
- K Estabrook
- K Lee
- K Mizuno
- K Sauer
- K Sauer
- KG Estabrook
- LM Degtyarev
- LM Gorbunov
- MS Sodha
- NE Andreev
- NE Andreev
- NE Andreev
- NE Andreev
- NE Andreev
- P Mulser
- P Mulser
- P Mulser
- P Probert
- PK Shukla
- R Dragila
- RL Stenzel
- SJ Gitomer
- T Tanikawa
- TP Donaldson
- VB Gildenburg
- VB Gildenburg
- VB Gildenburg
- VI Barinov
- W Gekelman
- WL Kruer
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1987
- Field of study
Teacher Characteristics and Student Achievement Gains: A Review
- Author
- American College Testing
- Andrew J. Wayne
- Coleman JS
- Darling-Hammond L
- Darling-Hammond L
- Decker P
- Eberts RW
- Ferguson RF
- Ferguson RF
- Ferguson RF
- Fetler M
- Gitomer DH
- Goertz ME
- Goldhaber DD
- Graham PA
- Grissmer DW
- Grissmer DW
- Hanushek EA
- Hanushek EA
- Henke RR
- Hussar WJ
- Ingersoll RM
- Jordan HR
- Kain JF
- King G
- Ludlow L
- Maynard R
- Mitchell KJ
- Monk DH
- Murnane RJ
- Pecheone R
- Peter Youngs
- Raymond M
- Rivkin SG
- Rowan B
- Sanders WL
- Sedlak M
- Summers AA
- Summers AA
- Summers AA
- Turner SE
- U.S. Department of Education
- Walsh K
- Warren D
- Wayne A
- Wayne A
- Wayne AJ
- Wilson SM
- Youngs P
- Youngs P
- Publication venue
- 'American Educational Research Association (AERA)'
- Publication date
- Field of study
Chapter 3: Apprenticeship Instruction for Reai-World Tasks: The Coordination of Procedures, Mental Models, and Strategies
- Author
- Ahlers RH
- Alluisi EA
- Anderson JR
- Anderson JR
- Anderson JR
- Anderson JR
- Anderson JR
- Berg I
- Bobrow DG
- Bonar JG
- Bonar JG
- Brown AL
- Brown AL
- Brown JS
- Brown JS
- Brown JS
- Bruner JS
- Carbonell JR
- Card S
- Clancey WJ
- Collins A
- Collins AM
- de Kleer J
- Eurich N
- Feltovich PJ
- Feurzeig W
- Frederiksen JR
- Frederiksen JR
- Frederiksen JR
- Gentner D
- Gitomer DH
- Glaser R
- Glaser R
- Gott SP
- Gott SP
- Gott SP
- Gray WD
- Greeno JG
- Hollan JD
- Hollan JD
- Hunt RM
- Johnson WB
- Johnson WB
- Johnson WB
- Johnson WL
- Kieras DE
- Kieras DE
- Kieras DE
- Lajoie SP
- Lave J
- Maddox ME
- Means B
- Munro A
- Munro A
- Newell A
- Newell A
- Nichols P
- Nii HP
- O鈥橬eil HF
- Papert S
- Potter NR
- Resnick LB
- Rouse WB
- Rumelhart DE
- Rumelhart DE
- Scardamalia M
- Schoenfeld AH
- Sherrie P. Gott
- Soloway EM
- Stevens AL
- Su YL
- Towne DM
- Towne DM
- Towne DM
- Towne DM
- Towne DM
- Wenger E
- White BY
- White BY
- White BY
- Publication venue
- 'American Educational Research Association (AERA)'
- Publication date
- Field of study
Heteromeric Solute Carriers: Function, Structure, Pathology and Pharmacology
- Author
- A Anderluh
- A Anderluh
- A Aspatwar
- A Bellucci
- A Benleulmi-Chaachoua
- A Bril
- A Broer
- A Broer
- A Broer
- A Broer
- A Broer
- A Cesar-Razquin
- A Chairoungdua
- A Chairoungdua
- A Che
- A Galli
- A Geerlings
- A Geerlings
- A Gilbert
- A Grabner
- A Heurich
- A Kinne
- A Kollert-Jons
- A Massie
- A Massie
- A Meier
- A Mogielnicki
- A Moszczynska
- A Nabeyama
- A Noguchi
- A Paz
- A Penmatsa
- A Penmatsa
- A Penmatsa
- A Pisano
- A Poulopoulos
- A Rao
- A Rasola
- A Rearden
- A Rearden
- A Rosell
- A Rotmann
- A Sacher
- A Sahota
- A Schumann-Gillett
- A Shulla
- A Staubli
- A Takesono
- A Vastermark
- A Vastermark
- A Vergara-Jaque
- A Watanabe
- A Yadav
- A Yamashita
- A Yasuhara
- AA Kendrick
- AA Zur
- AB Deora
- AB Pramod
- AC Kalli
- AE Busch
- AE Schofield
- AH Wong
- AHM Wong
- AJ Eshleman
- AJ Pang
- AJ Turner
- AJ Turner
- AK Das
- AK Kantcheva
- AK Stewart
- AL Gray
- AL Williams
- AM Brunati
- AM Garcia
- AM Jeannotte
- AM Paquette
- AM Razavi
- AM Razavi
- AM Toye
- AM Toye
- AM Toye
- AN Cowell
- AP Halestrap
- AP Halestrap
- AP Halestrap
- AP Halestrap
- AP Tartia
- AQ Sun
- AR Edington
- AS Brown
- AS Kristensen
- AT Bozzi
- AW Fjorback
- AZ Kalea
- B Brenner
- B Guptaroy
- B Kloeckener-Gruissem
- B Lopez-Corcuera
- B Lopez-Corcuera
- B Machnicka
- B Snieder
- B Wollscheid
- BA Mannion
- BG Pavone
- BJ Hoffman
- BL Tang
- BM Egan
- BM Rotoli
- BM Rotoli
- BM Rotoli
- BN Atkinson
- BR Pitt
- C Bohmer
- C Chu
- C Dipace
- C Fenollar-Ferrer
- C Guo
- C Kern
- C Koshy
- C Koshy
- C Liu
- C Manoharan
- C Meier
- C Ohno
- C Perez
- C Perez
- C Pinheiro
- C Pinheiro
- C Pinheiro
- C Pinheiro
- C Pinheiro
- C Pinheiro
- C Romei
- C Santiago
- C Shayakul
- C Vickers
- C Vilches
- C Wersinger
- C Wersinger
- C Wersinger
- C Zhao
- C Zhao
- CA Fenczik
- CA Fenczik
- CA Holman
- CA Pereira
- CA Wagner
- CA Wagner
- CB Ferrebee
- CB Nemeroff
- CC Bridges
- CC Feral
- CC Feral
- CD Bovenzi
- CD Klaassen
- CE Schwartz
- CG Gahmberg
- CH Huang
- CH Kim
- CJ De Saedeleer
- CJ Soroka
- CJ Soroka
- CJ Tsai
- CK Garcia
- CK Garcia
- CL Cioffi
- CL Liu
- CL Piscitelli
- CL Piscitelli
- CL Steeves
- CL Steeves
- CP Mercado
- CY Chu
- D Arac
- D Batlle
- D Blanchard
- D Braun
- D Carpentieri
- D Chansel
- D De Bundel
- D Dickens
- D Dickens
- D Digomann
- D Drew
- D Esterhazy
- D Fotiadis
- D Fotiadis
- D Hanahan
- D Joseph
- D Markovich
- D Ozaslan
- D Riemann
- D Rosenberg
- D Singer
- D Singer
- D Torrents
- D Torrents
- D Vats
- D Wang
- D Wrapp
- D Xu
- D Yannoukakos
- D Yannoukakos
- D Zhang
- D Zolkowska
- DA Baker
- DB Mount
- DB Weiner
- DC Javitt
- DC Rees
- DC Tarlungeanu
- DE Bolland
- DH Alpers
- DI Ortiz-Melo
- DJ Anstee
- DJ Parks
- DJ Seward
- DK Kim
- DK Kim
- DK Kim
- DK Walters
- DL Christie
- DM Voss
- DN Wang
- DN Wang
- DP Rajan
- DP Rajan
- DS Terry
- DW Knowles
- DW Lambert
- DY Boudko
- DZ Gerhart
- E Allman
- E Botzenhart
- E Boulter
- E Bushell
- E Carbone
- E Cartier
- E Cordat
- E Dassa
- E Errasti-Murugarren
- E Fernandez
- E Fernandez
- E Fernandez
- E Fernandez
- E Margheritis
- E Maurer-Spurej
- E Nakamura
- E Perland
- E Pinard
- E Pras
- E Puris
- E Quackenbush
- E Romeo
- E Tokunaga
- E van den Akker
- E Yang
- E Ziu
- EA Marieb
- EA Nigg
- EB Knopfel
- EB Nielsen
- EC Friesema
- EC Friesema
- EC Friesema
- EC Friesema
- EF Grollman
- EL Huttlin
- EM Quistgaard
- ER Geertsma
- ER Geertsma
- ER Gilbert
- ER Graf
- F Binda
- F Binda
- F Buchmayer
- F Casagrande
- F Casals
- F Fang
- F He
- F Impens
- F Jiang
- F Longhena
- F Lu
- F Oppedisano
- F Oppedisano
- F Verrey
- F Verrey
- F Verrey
- F Verrey
- F Verrey
- F Verrey
- F Wu
- FC Brosius 3rd
- FE Karet
- FH Wong
- FJ Lee
- FJ Rosario
- G Albertini
- G Borsani
- G Chidlow
- G Fairbanks
- G Gorini
- G Gorini
- G Hennemann
- G Jedlitschky
- G Khelashvili
- G Khelashvili
- G Khelashvili
- G Khelashvili
- G Krause
- G McQueen
- G Mesuret
- G Paizis
- G Rossier
- G Rudnick
- G Rudnick
- G Zhang
- GC Hadlock
- GC Kodippili
- GD Grass
- GD Gupta
- GE Torres
- GE Torres
- GH Diering
- GJ Peter
- GM Hayes
- GW Prager
- H Azima
- H de Wit
- H Farhan
- H Furthmayr
- H Furthmayr
- H Hassoun
- H Honjo
- H Ilgu
- H Imai
- H Jensen
- H Krishnamurthy
- H Li
- H Marzban
- H Matsuo
- H Nawashiro
- H Ohkame
- H Passow
- H Sason
- H Sato
- H Sato
- H Segawa
- H Sjostrom
- H Tachikui
- H Takanaga
- H Tsumura
- H Uosaki
- H Wang
- H Wang
- H Yagita
- H Ylikangas
- H Ylikangas
- H Yoon
- H Zhang
- H Zhang
- H Zhang
- H Zhang
- H Zhong
- H Zhou
- HE Ramos
- HF Seow
- HG Bernstein
- HH Sitte
- HH Sitte
- HJ Jeong
- HJ Matthies
- HK Muller
- HK Muller
- HL Chen
- HM Becker
- HM Becker
- HM Becker
- HM Becker
- HM Becker
- HM Becker
- HM Van Dort
- HM Wain
- HP Fan
- HR Treutlein
- HT Nguyen
- HU Zeilhofer
- I Auffray
- I Chen
- I Hamming
- I Matskevitch
- I Moschen
- IA Ehrnstorfer
- IA Ehrnstorfer
- IE Hill
- IM Thornell
- J Abplanalp
- J Abramson
- J Adams
- J Adijanto
- J Altirriba
- J Andersen
- J Andersen
- J Azevedo-Silva
- J Bernal
- J Bertran
- J Bertran
- J Bertran
- J Bertran
- J Brahm
- J Cantor
- J Cantor
- J Chillaron
- J Chillaron
- J Chillaron
- J Chillaron
- J Eriksen
- J Fort
- J Fu
- J Garcia-Olivares
- J Garcia-Olivares
- J Guastella
- J Guastella
- J Haase
- J Haase
- J Han
- J Koehnke
- J Kurko
- J Lan
- J Lewerenz
- J Lewerenz
- J Lewerenz
- J Lewerenz
- J Lewerenz
- J Li
- J Luo
- J Mykkanen
- J Nakauchi
- J Olsen
- J Perheentupa
- J Poole
- J Poole
- J Rizo
- J Shang
- J Su
- J Su
- J ter Beek
- J Vaquero
- JA Coleman
- JA Coleman
- JA DeGiorgis
- JA Kaleeba
- JA Kropski
- JA Lumadue
- JB Sorensen
- JC Cheung
- JC Mauna
- JC Zheng
- JD Groves
- JD Groves
- JD Groves
- JD Groves
- JD Ochrietor
- JD Ochrietor
- JE Carland
- JE Carland
- JE Carland
- JE Kilty
- JE Manning Fox
- JH Hwang
- JH Tian
- JJ Beaudoin
- JJ Castorino
- JJ Castorino
- JJ Falke
- JJ Falke
- JJ Falke
- JJ Lebowitz
- JL Adelman
- JL Boyer
- JL Etoga
- JL Guy
- JL Guy
- JL Jiang
- JL Sloan
- JL Sloan
- JM Baltz
- JM Brown
- JM Cantor
- JM Ko
- JM Vanslambrouck
- JN Ablack
- JO Kokkonen
- JP Bai
- JP Bai
- JP Cartron
- JP Cartron
- JR Casey
- JR Storry
- JS Redzic
- JV Olsen
- JV Olsen
- JW Langley
- JW Ritchie
- K Finning
- K Fukui
- K Giger
- K Hori
- K Jayaraman
- K Kaira
- K Kazmier
- K Kazmier
- K Kazmier
- K Khafizov
- K Kobayashi
- K Kramkowski
- K Kuba
- K Kuba
- K Langnaese
- K Miyamoto
- K Miyamoto
- K Mizoguchi
- K Morita
- K Moussawi
- K Oda
- K Ohno
- K Okubo
- K Olschok
- K Ridgwell
- K Ridgwell
- K Saisho
- K Sakimura
- K Suhre
- K Suina
- K Tsuchihashi
- K Zhou
- KA Wong
- KA Zaia
- KE Andersen
- KE McCoy
- KE Sahr
- KE Smith
- KE Smith
- KE Wright
- KEJ Jungnickel
- KF To
- KH Chhabra
- KH Lee
- KH Smalla
- KH Wang
- KJ Simmons
- KM Gottesdiener
- KM Hinz
- KR Aubrey
- KR Kampen
- KR MacKenzie
- KS Dimmer
- KS Kau
- KS Mineev
- KT Iacono
- KT Rigbolt
- KW Huynh
- L Bergersen
- L Bisceglia
- L Carpenter
- L Carpenter
- L Carvelli
- L Dai
- L Dello Strologo
- L Fagerberg
- L Feliubadalo
- L Feliubadalo
- L Harnevik
- L Harnevik
- L Helboe
- L Iversen
- L Kowalczyk
- L Laursen
- L Lin
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- L Weng
- LA Borden
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- LA Kelley
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- LJ Bruce
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- LJ Bruce
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- LJ Bruce
- LJ Van Winkle
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- LR Forrest
- LR Forrest
- LR Forrest
- LR Forrest
- M Baba
- M Babusiak
- M Barbosa
- M Bublitz
- M Camilleri
- M Dean
- M Dean
- M Dean
- M Donoghue
- M Flores-Mu帽oz
- M Font-Llitjos
- M Font-Llitjos
- M Furriols
- M Furuya
- M Gabrisko
- M Gur
- M Gynther
- M Gynther
- M Ideno
- M Jokinen
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- M Kilisch
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- M Klier
- M Lo
- M Mahdavi
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- M Meury
- M Onda
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- M Palacin
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- M Pepaj
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- M Quick
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- WE Visser
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- WM van der Deure
- WN Fishbein
- WS Lee
- WV Christian
- WV Christian
- WY Wahlgren
- X Bai
- X Gao
- X Gao
- X Gu
- X Liu
- X Xie
- X Yu
- XL Yu
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- Y Baumer
- Y Bian
- Y Cormerais
- Y Fang
- Y Fukasawa
- Y Futagi
- Y Hirayasu
- Y Imai
- Y Imai
- Y Imai
- Y Imai
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- Y Jiang
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- Y Kanai
- Y Kanai
- Y Kanai
- Y Kanai
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- Y Murakami
- Y Ohno
- Y Okamoto
- Y Qian
- Y Shi
- Y Shigeta
- Y Shoji
- Y Wang
- Y Wang
- Y Wang
- Y Xue
- Y Yan
- Y Zhang
- Y Zhao
- YM Leung
- Z Chiang
- Z Haining
- Z Qin
- Z Skopkova
- Z Yu
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/08/2021
- Field of study
Solute carriers form one of three major superfamilies of membrane transporters in humans, and include uniporters, exchangers and symporters. Following several decades of molecular characterisation, multiple solute carriers that form obligatory heteromers with unrelated subunits are emerging as a distinctive principle of membrane transporter assembly. Here we comprehensively review experimentally established heteromeric solute carriers: SLC3-SLC7 amino acid exchangers, SLC16 monocarboxylate/H+ symporters and basigin/embigin, SLC4A1 (AE1) and glycophorin A exchanger, SLC51 heteromer Ost 伪-Ost 尾 uniporter, and SLC6 heteromeric symporters. The review covers the history of the heteromer discovery, transporter physiology, structure, disease associations and pharmacology - all with a focus on the heteromeric assembly. The cellular locations, requirements for complex formation, and the functional role of dimerization are extensively detailed, including analysis of the first complete heteromer structures, the SLC7-SLC3 family transporters LAT1-4F2hc, b0,+AT-rBAT and the SLC6 family heteromer B0AT1-ACE2. We present a systematic analysis of the structural and functional aspects of heteromeric solute carriers and conclude with common principles of their functional roles and structural architecture
Ion Implantation
- Author
- A Addamiano
- A Addamiano
- A Andersson
- A Axmann
- A Axmann
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- V Kolazhik
- VA Botvin
- VA Eltekov
- VA Glukhikh
- VA Ryabov
- VG Litovchenko
- VG Zlobin
- VGK Reddi
- VGK Reddi
- VGK Reddi
- VI Kucherov
- VI Paleev
- VK Vasilev
- VK Vasilev
- VL Chetvertkov
- VL Komarov
- VL Litvinov
- VL Morokhovskii
- VL Rideout
- VL Shulga
- VM Artemov
- VM Gusev
- VM Gusev
- VM Gusev
- VM Gusev
- VM Gusev
- VM Pistryak
- VM Zelevinskaya
- VM Zelevinskaya
- VM Zelevinskaya
- VM Zelevinskaya
- VS Kesselman
- VS Vavilov
- VV Batavin
- VV Beloshitski
- VV Beloshitski
- VV Beloshitsky
- VV Beloshitsky
- VV Beloshitsky
- VV Makarov
- VV Vishnyakov
- VV Yudin
- VV Yudin
- VV Yudin
- W Akutagawa
- W Beezhold
- W Beyer
- W Eckstein
- W Fahrner
- W Fahrner
- W Frank
- W Kellner
- W Kellner
- W Kratschmer
- W Lucke
- W Moller
- W Primak
- W Primak
- W Primak
- W Rosinski
- W Rosinski
- W Rosinski
- W Rosinski
- W Rosinski
- W Rothenmund
- W Schemmert
- W Schemmert
- W Schlagheck
- W Stumpfi
- W Zenker
- WC Ko
- WC Niehaus
- WD Wilson
- WE Choi
- WF Ohnesorge
- WFJ Frank
- WH Weisenberger
- WJ Anderson
- WJ Evans
- WK Chu
- WK Chu
- WK Chu
- WK Chu
- WK Hofker
- WK Hofker
- WK Hofker
- WK Hofker
- WK Lin
- WK Wu
- WL Brown
- WM Portnoy
- WM Pritchard
- WM Pritchard
- WN Hammer
- WN Hammer
- WS Johnson
- Y Akasaka
- Y Akasaka
- Y Akasaka
- Y Akasaka
- Y Kato
- Y Krylov
- Y Makita
- Y Makita
- Y Makita
- Y Ohmura
- Y Okuyama
- Y Ono
- Y Quere
- Y Quere
- Y Segawa
- Y Shiraki
- Y Wada
- Y Yuba
- Y Zohta
- YG Kozlov
- YH Ohtsuki
- YH Ohtsuki
- YH Ohtsuki
- YM Khirnyi
- YN Shutov
- YS Akimov
- YS Park
- YS Park
- YS Park
- YV Bulgakov
- YV Bulgakov
- YV Bulgakov
- YV Bulgakov
- YV Gorelkinskii
- YV Martynenko
- YZ Akilov
- Z Szmid
- ZC Putney
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1976
- Field of study