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Books
Cystic fibrosis : the facts / Anne H. Thomson, Ann Harris.
Author / Creator:Thomson, Anne H.
Publisher:Oxford ; New York : Oxford University Press, 2008.
Edition:Fully updated and rev. 4th ed.
Date:2008.
Call Numbers:G 2014/2254
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Books
Understanding cystic fibrosis / Karen Hopkin.
Author / Creator:Hopkin, Karen.
Publisher:Jackson : University Press of Mississippi, c1998.
Call Numbers:N616.37/5
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Books
Cystic fibrosis : the facts / Ann Harris and Maurice Super.
Author / Creator:Harris, Ann, 1956-
Publisher:Oxford : Oxford University Press, 1995.
Edition:3rd ed.
Date:1995.
Call Numbers:N616.37/4
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Books
Cystic fibrosis handbook / Teresa Bennington ... [et al.].
Publisher:Southbank, Vic. : Cystic Fibrosis Association of Victoria, c1998.
Edition:6th ed.
Call Numbers:NQ616.37/2
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Books
Breath from salt : a deadly genetic disease, a new era in science, and the patients and families who changed medicine forever / Bijal P. Trivedi.
Author / Creator:Trivedi, Bijal P., 1970- author.
Publisher:Dallas, TX : BenBella Books, Inc., [2020]
Call Numbers:G 2020/4038
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Books
Genetic disorders sourcebook : basic consumer health information about hereditary diseases and disorders, including facts about the human genome, genetic inheritance patterns, disorders associated wit...
Publisher:Detroit, Mich. : Omnigraphics, c2004.
Edition:3rd ed. / Karen Bellenir.
Call Numbers:N616.042/43
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Video
Hand-me-down genes [videorecording] : an introduction to genetics / Executive Producer David Brown, Produced, directed and edited by Rod Rees, Notes written by Jan Rosenberg, Program Advisor Stewart...
Publisher:Bendigo, Vic. : Video Education Australasia, 1997.
Date:1997.
Call Numbers:VB9892
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Video
Trial & error : the rise & fall of gene therapy [videorecording].
Publisher:North Sydney : BBC Worldwide, c2003.
Call Numbers:VB12867
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Books
Newborn screening guidelines [electronic resource] / NSW Health.
Publisher:Sydney : NSW Health, 2005.
Date:2005.
View online
Freely accesible: Publisher site.
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Books
Orphan : the quest to save children with rare genetic disorders / Philip R. Reilly.
Author / Creator:Reilly, Philip, 1947- author.
Publisher:Cold Spring Harbor, New York : Cold Spring Harbor Laboratory Press, [2015]
Call Numbers:G 2015/4027
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Books
Medical aspects of developmental disabilities in children birth to three / [edited by] James A. Blackman.
Publisher:Gaithersburg, Md. : Aspen Publishers, 1997.
Edition:3rd ed.
Date:1997.
Call Numbers:N618.92/66
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ebooks
Novel Systems for the Study of Human Disease [electronic resource]: From Basic Research to Applications / Organisation for Economic Co-operation and Development
Author / Creator:Organisation for Economic Co-operation and Development.
Publisher:Paris : OECD Publishing, 1998.
Date:1998.
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ebooks
Gale Encyclopedia of Science.
Publisher:FARMINGTON HILLS : Cengage Gale, 2021.
Edition:6th ed.
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ArticlesPeer ReviewedFull Text
Cystic fibrosis genetics: from molecular understanding to clinical application
Author / Creator:Cutting, Garry R.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2015-01, Vol.16 (1), p.45-56
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ArticlesPeer ReviewedFull Text
Causal therapy is available
Author / Creator:Meißner, Thomas
Publisher:Germany
Journal title:MMW Fortschritte der Medizin, 2016-06, Vol.158 (12), p.74-74
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ArticlesPeer ReviewedFull Text
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)
Author / Creator:Gregg, Anthony R. ; Aarabi, Mahmoud ; Klugman, Susan ; Leach, Natalia T. ; Bashford, Michael T. ; Goldwaser, Tamar ; Chen, Emily ; Sparks, Teresa N. ; Reddi, Honey V. ; Rajkovic, Aleksandar ; Dungan, Jeffrey S.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-10, Vol.23 (10), p.1793-1806
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ArticlesPeer ReviewedFull Text
Cystic fibrosis
Author / Creator:Elborn, J Stuart, Prof
Publisher:England: Elsevier Ltd
Journal title:The Lancet (British edition), 2016-11, Vol.388 (10059), p.2519-2531
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ArticlesPeer ReviewedFull Text
Cystic fibrosis
Author / Creator:Shteinberg, Michal ; Haq, Iram J ; Polineni, Deepika ; Davies, Jane C
Publisher:England: Elsevier Ltd
Journal title:The Lancet (British edition), 2021-06, Vol.397 (10290), p.2195-2211
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ArticlesPeer ReviewedFull Text
Elexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele
Author / Creator:Middleton, Peter G ; Mall, Marcus A ; Dřevínek, Pavel ; Lands, Larry C ; McKone, Edward F ; Polineni, Deepika ; Ramsey, Bonnie W ; Taylor-Cousar, Jennifer L ; Tullis, Elizabeth ; Vermeulen, François ; Marigowda, Gautham ; McKee, Charlotte M ; Moskowitz, Samuel M ; Nair, Nitin ; Savage, Jessica ; Simard, Christopher ; Tian, Simon ; Waltz, David ; Xuan, Fengjuan ; Rowe, Steven M ; Jain, Raksha
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2019-11, Vol.381 (19), p.1809-1819
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ArticlesPeer ReviewedFull Text
Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial
Author / Creator:Heijerman, Harry G M ; McKone, Edward F ; Downey, Damian G ; Van Braeckel, Eva ; Rowe, Steven M ; Tullis, Elizabeth ; Mall, Marcus A ; Welter, John J ; Ramsey, Bonnie W ; McKee, Charlotte M ; Marigowda, Gautham ; Moskowitz, Samuel M ; Waltz, David ; Sosnay, Patrick R ; Simard, Christopher ; Ahluwalia, Neil ; Xuan, Fengjuan ; Zhang, Yaohua ; Taylor-Cousar, Jennifer L ; McCoy, Karen S ; McCoy, Karen ; Donaldson, Scott ; Walker, Seth ; Chmiel, James ; Rubenstein, Ronald ; Froh, Deborah K. ; Neuringer, Isabel ; Jain, Manu ; Moffett, Kathryn ; Taylor-Cousar, Jennifer L. ; Barnett, Bruce ; Mueller, Gary ; Flume, Patrick ; Livingston, Floyd ; Mehdi, Nighat ; Teneback, Charlotte ; Welter, John ; Jain, Raksha ; Kissner, Dana ; Patel, Kapilkumar ; Calimano, Francisco J. ; Johannes, Jimmy ; Daines, Cori ; Keens, Thomas ; Scher, Herschel ; Chittivelu, Subramanyam ; Reddivalam, Sudhakar ; Klingsberg, Ross Carl ; Johnson, Larry G. ; Verhulst, Stijn ; Macedo, Patricia ; Downey, Damien ; Connett, Gary ; Nash, Edward ; Withers, Nicholas ; Lee, Timothy ; Bakker, Marleen ; Heijerman, Harry ; Vermeulen, Francois ; Van Braeckel, Eva ; Knoop, Christiane ; De Wachter, Elke ; van der Meer, Renske ; Merkus, Petrus ; Majoor, Christof
Publisher:England: Elsevier Ltd
Journal title:The Lancet (British edition), 2019-11, Vol.394 (10212), p.1940-1948
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Showing 1 to 20 of 2,191 results

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Cystic fibrosis : the facts / Anne H. Thomson, Ann Harris.

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Understanding cystic fibrosis / Karen Hopkin.

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Cystic fibrosis : the facts / Ann Harris and Maurice Super.

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Cystic fibrosis handbook / Teresa Bennington ... [et al.].

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Breath from salt : a deadly genetic disease, a new era in science, and the patients and families who changed medicine forever / Bijal P. Trivedi.

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Genetic disorders sourcebook : basic consumer health information about hereditary diseases and disorders, including facts about the human genome, genetic inheritance patterns, disorders associated wit...

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Hand-me-down genes [videorecording] : an introduction to genetics / Executive Producer David Brown, Produced, directed and edited by Rod Rees, Notes written by Jan Rosenberg, Program Advisor Stewart...

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Trial & error : the rise & fall of gene therapy [videorecording].

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Newborn screening guidelines [electronic resource] / NSW Health.

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Orphan : the quest to save children with rare genetic disorders / Philip R. Reilly.

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Medical aspects of developmental disabilities in children birth to three / [edited by] James A. Blackman.

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Novel Systems for the Study of Human Disease [electronic resource]: From Basic Research to Applications / Organisation for Economic Co-operation and Development

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Gale Encyclopedia of Science.

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Cystic fibrosis genetics: from molecular understanding to clinical application

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Causal therapy is available

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Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

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Cystic fibrosis

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Cystic fibrosis

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Elexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele

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Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial

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