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Hong Kong Renal Registry Report 2010
by
Ho, Yiu-Wing
,
Chau, Ka-Foon
,
Choy, Bo-Ying
,
Fung, Ka-Sheung
,
Cheng, Yuk-Lun
,
Kwan, Tze-Hoi
,
Wong, Ping-Nam
,
Lai, Wai-Ming
,
Yong, David Sai-Ping
,
Lo, Stanley Hok-King
,
Chan, Ching-Kit
,
Leung, Chi-Bon
Published in
Hong Kong journal of nephrology
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P130 Enhancing the clinical management kidney transplant patients presenting with unknown donor hla typing by a modified urine typing technology
by
Ho, Jenny Chung-Yee
,
Yu, Yau-Hei
,
Choi, Leo Chi-Wai
,
Tang, Ivan Wing-Hong
,
Ng, Sandra Lai-Kwan
,
Tsang, Winnie Lai-Chu
,
Fung, Samuel Ka-Shun
,
Kwan, Tze-Hoi
,
Li, Philip Kam-Tao
,
Leung, Chi-Bon
,
Chak, Wai-Leung
,
Wong, Sunng Sze-Ho
,
Mak, Siu-Kai
,
Yong, David Sai Ping
,
Yeung, Shing
,
Chan, Tak-Mao
,
Kwok, Janette Siu-Yin
Published in
Human immunology
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Hong Kong Registry Report 2004
by
Ho, Yiu-Wing
,
Chau, Ka-Foon
,
Leung, Chi-Bon
,
Choy, Bo-Ying
,
Tsang, Wai-Kei
,
Wong, Ping-Nam
,
Cheng, Yuk-Lun
,
Lai, Wai-Ming
,
Sai-Ping Yong, David
,
Kwan, Tze-Hoi
,
Lui, Siu-Fai
Published in
Hong Kong journal of nephrology
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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
by
Stephens, Jonathan
,
Dewhurst, Eleanor
,
Malka, Samantha
,
Plagnol, Vincent
,
Rizzo, Roberta
,
Scott, Richard H.
,
Henderson, Robert H.H.
,
MacLaren, Robert E.
,
Paterson, Joan
,
Aitman, Timothy
,
Ali, Sonia
,
Ambegaonkar, Gautum
,
Arno, Gavin
,
Astle, William
,
Attwood, Antony
,
Bennett, David
,
Bitner-Glindzicz, Maria
,
Bleda, Marta
,
Boggard, Harm
,
Carss, Keren
,
Clements-Brod, Naomi
,
DaCosta, Rosa
,
De Vries, Minka
,
Dewhurst, Eleanor
,
Drewe, Elizabeth
,
Egner, William
,
Erber, Wendy N.
,
Everington, Tamara
,
Fletcher, Debra
,
Freson, Kathleen
,
Gale, Daniel
,
Ghali, Neeti
,
Ghurye, Rohit
,
Gräf, Stefan
,
Greene, Daniel
,
Grigoriadou, Sofia
,
Grozeva, Detelina
,
Hackett, Scott
,
Hadinnapola, Charaka
,
Hague, Rosie
,
Hammerton, Tracey
,
Heemskerk, Johan W.M.
,
Holder, Muriel
,
Holder, Susan
,
Huissoon, Aarnoud
,
Hurst, Jane
,
Jolles, Stephen
,
Keeling, David
,
Kennedy, Fiona
,
Kiely, David
,
Lawrie, Allan
,
Lear, Sara
,
Lees, Melissa
,
Lentaigne, Claire
,
Lorenzo, Lorena
,
Mangles, Sarah
,
Mapeta, Rutendo
,
Masati, Larahmie
,
Mathias, Mary
,
Michaelides, Michel
,
Millar, Carolyn M.
,
Moledina, Shahin
,
Moore, Anthony
,
Murng, Sai
,
Oksenhendler, Eric
,
Park, Soo-Mi
,
Patch, Chris
,
Paterson, Joan
,
Penkett, Christopher J.
,
Pepke-Zaba, Joanna
,
Pollock, Val
,
Qasim, Waseem
,
Quinti, Isabella
,
Reid, Evan
,
Rondina, Matthew
,
Rosser, Elisabeth
,
Santra, Saikat
,
Sargur, Ravishankar
,
Savic, Sinisa
,
Scully, Marie
,
Sewell, Carrock
,
Smith, Kenneth
,
Southgate, Laura
,
Stauss, Hans
,
Stein, Penelope
,
Talks, Kate
,
Thomas, Ellen
,
Thrasher, Adrian
,
Tischkowitz, Marc
,
Titterton, Catherine
,
Turro, Ernest
,
von Ziegenweldt, Julie
,
Vonk Noordegraaf, Anton
,
Wakeling, Emma
,
Wanjiku, Ivy
,
Welch, Steve
,
Westbury, Sarah
,
Woods, Geoffrey
,
Yong, Patrick
,
Webster, Andrew R.
Published in
American journal of human genetics
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Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
by
Tuijnenburg, Paul
,
Jansen, Machiel H.
,
Carss, Keren J.
,
Baxendale, Helen
,
Chandra, Anita
,
Seneviratne, Suranjith L.
,
Oksenhendler, Eric
,
Tool, Anton T.J.
,
Whitehorn, Deborah
,
Turro, Ernest
,
Thaventhiran, James E.
,
Kuijpers, Taco W.
,
Adhya, Zoe
,
Anantharachagan, Ariharan
,
Arumugakani, Gururaj
,
Bacchelli, Chiara
,
Baxendale, Helen
,
Bibi, Shahnaz
,
Booth, Claire
,
Browning, Michael
,
Burns, Siobhan
,
Clifford, Hayley
,
Cooper, Nichola
,
Davies, Sophie
,
Devlin, Lisa
,
Edgar, David
,
Egner, William
,
Ghurye, Rohit
,
Gilmour, Kimberley
,
Goddard, Sarah
,
Gordins, Pavel
,
Hackett, Scott
,
Hague, Rosie
,
Hayman, Grant
,
Jolles, Stephen
,
Jones, Julie
,
Kelleher, Peter
,
Klein, Nigel
,
Kuijpers, Taco
,
Kumararatne, Dinakantha
,
Laffan, James
,
Lango Allen, Hana
,
Lear, Sara
,
Longhurst, Hilary
,
Maimaris, Jesmeen
,
McDermott, Elizabeth
,
Morrisson, Valerie
,
Nasir, Iman
,
Noorani, Sadia
,
Oksenhendler, Eric
,
Ponsford, Mark
,
Qasim, Waseem
,
Quinn, Ellen
,
Quinti, Isabella
,
Samarghitean, Crina
,
Savic, Sinisa
,
Seneviratne, Suranjith
,
Simeoni, Ilenia
,
Staples, Emily
,
Steele, Cathal
,
Thaventhiran, James
,
Thomas, Moira
,
Thrasher, Adrian
,
Worth, Austen
,
Yong, Patrick
,
Bradley, John
,
Hammerton, Tracey
,
Ouwehand, Willem
,
Raymond, F Lucy
,
Veltman, Marijke
,
Clements-Brod, Naomi
,
Davis, John
,
Dewhurst, Eleanor
,
Erwood, Marie
,
Frary, Amy
,
Linger, Rachel
,
Papadia, Sofia
,
Rehnstrom, Karola
,
Astle, William
,
Attwood, Antony
,
Bleda, Marta
,
Carss, Keren
,
Daugherty, Louise
,
Deevi, Sri
,
Graf, Stefan
,
Greene, Daniel
,
Halmagyi, Csaba
,
Matser, Vera
,
Meacham, Stuart
,
Megy, Karyn
,
Shamardina, Olga
,
Titterton, Catherine
,
Tuna, Salih
,
Turro, Ernest
,
von Ziegenweldt, Julie
,
Furnell, Abigail
,
Staines, Simon
,
Stephens, Jonathan
,
Whitehorn, Deborah
,
Watt, Christopher
Published in
Journal of allergy and clinical immunology
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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
by
Reich, Adi
,
Cross, J. Helen
,
Scheffer, Ingrid E.
,
Krishnappa, Netravathi
,
Awada, Jana
,
Baralle, Diana
,
Bernhard, Birgitta
,
Clasper, Susan
,
Clayton-Smith, Jill
,
Cresswell, Lara
,
Donaldson, Alan
,
Ellis, Ian
,
Gaunt, Lorraine
,
He, Liu
,
Hewitt, Sarah
,
Hurst, Jane
,
Kirk, Claire
,
Kivuva, Emma
,
Kumar, Dhavendra
,
Mansour, Sahar
,
McCann, Emma
,
McKee, Shane
,
Mugalaasi, Hood
,
Murphy, Helen
,
Newbury-Ecob, Ruth
,
Pilz, Daniela T.
,
Pollard, Martin
,
Pridham, Abigail
,
Saggar, Anand
,
Scott, Richard
,
Shearing, Emma
,
Smithson, Sarah
,
Sneddon, Linda
,
Suri, Mohnish
,
Tatton-Brown, Kate
,
Thomson, Jenny
,
Torokwa, Audrey
,
Varghese, Vinod
,
Yau, Michael
,
Artigas, Maria Soler
,
Boustred, Chris
,
Evans, David
,
Flicek, Paul
,
Hart, Deborah
,
Langford, Cordelia
,
Lawson, Daniel
,
Li, Rui
,
O'Donnovan, Michael
,
Parker, Victoria
,
Parr, Jeremy R.
,
Paunio, Tiina
,
Rehnström, Karola
,
Sun, Jianping
,
Suvisaari, Jaana
,
Tachmazidou, Ionna
,
Williamson, Kathleen A.
,
Wong, Kim
,
Alachkar, Hana
,
Ambegaonkar, Gautum
,
Attwood, Antony
,
Austin, Steve
,
Bennett, David
,
Bibi, Shahnaz
,
Bleda, Marta
,
Boggard, Harm
,
Bradley, John R.
,
Browning, Michael
,
Clement, Emma
,
Doffinger, Rainer
,
Drewe, Elizabeth
,
Frary, Amy
,
Ghataorhe, Pavandeep K.
,
Greenhalgh, Alan
,
Hackett, Scott
,
Hadinnapola, Charaka
,
Heemskerk, Johan W.M.
,
Humbert, Marc
,
James, Roger
,
Krishnakumar, Deepa
,
Lawrie, Allan
,
Lentaigne, Claire
,
Maimaris, Jesmeen
,
Maw, Anna
,
Megy, Karyn
,
Moledina, Shahin
,
Morrell, Nicholas
,
Nejentsev, Sergey
,
Polwarth, Gary
,
Quinti, Isabella
,
Raymond, F. Lucy
,
Samarghitean, Crina
,
Sanchis-Juan, Alba
,
Southgate, Laura
,
Stauss, Hans
,
Thrasher, Adrian
,
Trembath, Richard
,
Turro, Ernest
,
Williamson, Catherine
,
Yeatman, Nigel
,
Millichap, John J.
Published in
American journal of human genetics
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Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
by
West, Hannah
,
Carss, Keren
,
Shakeel, Hassan
,
Adlard, Julian
,
Cole, Trevor
,
Kwong, Ava
,
Paterson, Joan
,
Searle, Claire
,
Skytte, Anne-Bine
,
Aitman, Timothy
,
Ambegaonkar, Gautum
,
Antrobus, Richard
,
Arno, Gavin
,
Astle, William
,
Attwood, Antony
,
Austin, Steve
,
Bakchoul, Tamam
,
Bennett, David
,
Bitner-Glindzicz, Maria
,
Bleda, Marta
,
Bolton-Maggs, Paula
,
Booth, Claire
,
Clements-Brod, Naomi
,
Clowes, Virginia
,
Collins, Peter
,
Cookson, Victoria
,
Creaser-Myers, Amanda
,
DaCosta, Rosa
,
Davies, Sophie
,
Deegan, Patrick
,
Dewhurst, Eleanor
,
Doffinger, Rainer
,
Drewe, Elizabeth
,
Favier, Remi
,
Firth, Helen
,
Furie, Bruce
,
Furnell, Abigail
,
Gardham, Alice
,
Gissen, Paul
,
Gomez, Keith
,
Graf, Stefan
,
Gräf, Stefan
,
Greenhalgh, Alan
,
Hackett, Scott
,
Haimel, Matthias
,
Herwadkar, Archana
,
Holder, Muriel
,
Huissoon, Aarnoud
,
James, Roger
,
Kennedy, Fiona
,
Kingston, Nathalie
,
Kuijpers, Taco
,
Lawrie, Allan
,
Lentaigne, Claire
,
Machado, Rajiv
,
Maher, Eamonn
,
Mangles, Sarah
,
Manson, Ania
,
Matser, Vera
,
McDermott, Elizabeth
,
Megy, Karyn
,
Millar, Carolyn M.
,
Morrell, Nicholas
,
Ouwehand, Willem H.
,
Papadia, Sofia
,
Payne, Jeanette
,
Peacock, Andrew
,
Pollock, Val
,
Quinti, Isabella
,
Rayner-Matthews, Paula
,
Rehnstrom, Karola
,
Rhodes, Christopher J.
,
Richardson, Sylvia
,
Richter, Alex
,
Rondina, Matthew
,
Rosser, Elisabeth
,
Rue-Albrecht, Kevin
,
Sargur, Ravishankar
,
Savic, Sinisa
,
Schotte, Gwen
,
Schulze, Harald
,
Seneviratne, Suranjith
,
Shamardina, Olga
,
Simeoni, Ilenia
,
Staines, Simon
,
Stark, Hannah
,
Stock, Sophie
,
Thaventhiran, James
,
Thompson, Dorothy
,
Toh, Cheng-Hock
,
Turek, Wojciech
,
Wassmer, Evangeline
,
Watt, Christopher
,
Wharton, John
,
Williamson, Catherine
,
Woods, Geoff
,
Wort, John
,
Yeatman, Nigel
,
Tischkowitz, Marc D.
,
Maher, Eamonn R.
Published in
American journal of human genetics
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Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
by
Farmery, James H. R.
,
Smith, Mike L.
,
Lynch, Andy G.
Published in
Scientific reports
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Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma
by
Minskaia, Ekaterina
,
Maimaris, Jesmeen
,
Jenkins, Persephone
,
Albuquerque, Adriana S.
,
Hong, Ying
,
Eleftheriou, Despina
,
Gilmour, Kimberly C.
,
Grace, Richard
,
Moreira, Fernando
,
Grimbacher, Bodo
,
Morris, Emma C.
,
Burns, Siobhan O.
Published in
Journal of clinical immunology
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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
by
Duarte, Sofia T.
,
Charles, Perinne
,
Pfundt, Rolph
,
van Bokhoven, Hans
,
van Ravenswaaij-Arts, Conny
,
Morrell, Nicholas W.
,
Thrasher, Adrian
,
Fletcher, Debra
,
Veltman, Marijke
,
Davis, John
,
Frary, Amy
,
Martin, Jennifer M.
,
Collins, Janine
,
Favier, Remi
,
Hart, Daniel
,
Heemskerk, Johan W.M.
,
Liesner, Ri
,
Mangles, Sarah
,
Roughley, Catherine
,
Tait, R. Campbell
,
Thachil, Jecko
,
Van Geet, Chris
,
De Vries, Minka
,
Warner, Timothy Q.
,
Furnell, Abigail
,
Mapeta, Rutendo
,
Whitehorn, Deborah
,
Daugherty, Louise
,
Deevi, Sri V.V.
,
Hu, Fengyuan
,
Matser, Vera
,
Megy, Karyn
,
Tuna, Salih
,
von Ziegenweldt, Julie
,
Haimel, Matthias
,
Richardson, Sylvia
,
Rankin, Stuart
,
Anderson, Julie
,
Stock, Sophie
,
Armstrong, Ruth
,
Bitner-Glindzicz, Maria
,
Brady, Angie
,
Clement, Emma
,
Firth, Helen
,
Flinter, Frances
,
French, Courtney
,
Holder, Muriel
,
Hurst, Jane
,
Josifova, Dragana
,
Krishnakumar, Deepa
,
Kurian, Manju A.
,
Mehta, Sarju
,
Moore, Anthony
,
Rankin, Julia
,
Reid, Evan
,
Scott, Richard
,
Thomas, Ellen
,
Wassmer, Evangeline
,
Creaser-Myers, Amanda
,
Gall, Henning
,
Ghataorhe, Pavandeep K.
,
Houweling, Arjan C.
,
in’t Veld, Anna Huis
,
Ross, Rob V. Mackenzie
,
Rhodes, Christopher J.
,
Soubrier, Florent
,
Treacy, Carmen M.
,
Vonk Noordegraaf, Anton
,
Antrobus, Richard
,
Arumugakani, Gururaj
,
Bibi, Shahnaz
,
Devlin, Lisa
,
Ghurye, Rohit
,
Grigoriadou, Sofia
,
Harper, Lorraine
,
Herwadkar, Archana
,
Jolles, Stephen
,
Kumararatne, Dinakantha
,
Lorenzo, Lorena
,
Murng, Sai
,
Nejentsev, Sergey
,
Quinti, Isabella
,
Samarghitean, Crina
,
Savic, Sinisa
,
Yong, Patrick
,
Ancliff, Phil
,
Layton, Mark
,
Mead, Adam
,
Roy, Noémi
,
Chambers, Jenny
,
Estiu, Cecelia
,
Simpson, Michael
,
Emmerson, Ingrid
,
McCarthy, Mark
,
Van Zuydam, Natalie
,
Afzal, Maryam
,
Colby, Elizabeth
,
Boycott, Kym M.
,
Majewski, Jacek
,
Dyment, David
Published in
American journal of human genetics
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Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
by
Arno, Gavin
,
Zihni, Ceniz
,
Robson, Anthony G.
,
Fiorentino, Alessia
,
Black, Graeme
,
Ponitkos, Nikos
,
Holder, Graham E.
,
Aitman, Timothy
,
Alachkar, Hana
,
Allsup, David
,
Anderson, Julie
,
Armstrong, Ruth
,
Arumugakani, Gururaj
,
Ashford, Sofie
,
Bakchoul, Tamam
,
Bariana, Tadbir K.
,
Bibi, Shahnaz
,
Bitner-Glindzicz, Maria
,
Bolton-Maggs, Paula
,
Brady, Angie
,
Brown, Matthew
,
Caulfield, Mark
,
Chitre, Manali
,
Clowes, Virginia
,
Coghlan, Gerry
,
Collins, Peter
,
Creaser-Myers, Amanda
,
DaCosta, Rosa
,
Davies, Sophie
,
Deegan, Patrick
,
Deshpande, Charu
,
Doffinger, Rainer
,
Egner, William
,
Erwood, Marie
,
Favier, Remi
,
Flinter, Frances
,
Furie, Bruce
,
Furnell, Abigail
,
Gardham, Alice
,
Gattens, Michael
,
Ghataorhe, Pavandeep K.
,
Gibbs, Simon
,
Gilmour, Kimberley
,
Gissen, Paul
,
Goddard, Sarah
,
Gordins, Pavel
,
Greinacher, Andreas
,
Grigoriadou, Sofia
,
Hayman, Grant
,
Henderson, Robert
,
Henskens, Yvonne
,
Holden, Simon
,
Hu, Fengyuan
,
Jolles, Stephen
,
Josifova, Dragana
,
Keeling, David
,
Kelleher, Peter
,
Kelly, Anne M.
,
Kuijpers, Taco W.
,
Kumararatne, Dinakantha
,
Kurian, Manju
,
Laffan, Michael A.
,
Linger, Rachel
,
Machado, Rajiv
,
Manson, Ania
,
Markus, Hugh S.
,
Meehan, Sharon
,
Ouwehand, Willem H.
,
Park, Soo-Mi
,
Parker, Alasdair
,
Paterson, Joan
,
Peerlinck, Kathelijne
,
Perry, David J.
,
Qasim, Waseem
,
Rankin, Julia
,
Rehnstrom, Karola
,
Roberts, Irene
,
Roughley, Catherine
,
Rue-Albrecht, Kevin
,
Schulze, Harald
,
Shamardina, Olga
,
Shipley, Debbie
,
Simeoni, Ilenia
,
Stephens, Jonathan
,
Suntharalingam, Jay
,
Thachil, Jecko
,
Thaventhiran, James
,
Thomas, Ellen
,
Titterton, Catherine
,
Toh, Cheng-Hock
,
Turek, Wojciech
,
Turro, Ernest
,
Van Geet, Chris
,
Wakeling, Emma
,
Warner, Timothy Q.
,
Webster, Andrew
,
Wilkins, Martin
,
Young, Tim
,
Yu, Ping
,
Webster, Andrew R.
Published in
American journal of human genetics
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Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
by
Farmery, James H. R.
,
Smith, Mike L.
,
Lynch, Andy G.
Published in
Scientific reports
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5 results
5
The American Journal Of Human Genetics
3 results
3
Hong Kong Journal Of Nephrology
2 results
2
Scientific Reports
2 results
2
Human Immunology
1 results
1
Journal Of Allergy And Clinical Immunology
1 results
1
Journal Of Clinical Immunology
1 results
1
Subjects
Humans
8 results
8
Science & Technology
8 results
8
Life Sciences & Biomedicine
7 results
7
Female
6 results
6
Male
6 results
6
Genetics & Heredity
5 results
5
Adult
4 results
4
Mutation
4 results
4
Middle Aged
3 results
3
Pedigree
3 results
3
Phenotype
3 results
3
Adolescent
2 results
2
Aged
2 results
2
Alleles
2 results
2
Child
2 results
2
Child, Preschool
2 results
2
Gene Expression
2 results
2
Genetic Variation - Genetics
2 results
2
Genomes
2 results
2
Genomics
2 results
2
Year of Publication
From:
To:
Source
Ezb Electronic Journals Library
10 results
10
Sciencedirect (Online Service)
9 results
9
Bacon - Elsevier - Global Sciencedirect-Openaccess
7 results
7
Pubmed (Medline)
7 results
7
Doaj Directory Of Open Access Journals
4 results
4
Springer Nature - Nature.com Journals - Fully Open Access
2 results
2
Elsevier
2 results
2
Free Full-Text Journals In Chemistry
2 results
2
Ingentaconnect Journals
2 results
2
Road: Directory Of Open Access Scholarly Resources
2 results
2
Publicly Available Content Database
2 results
2
Nature
2 results
2
Springer Nature
1 results
1
Springer Online Journal Archives (Through 1996)
1 results
1
Springerlink Journals
1 results
1