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Diagnostic genetic testing : core concepts and the wider context for human DNA analysis
Bourn, David.
Cham, Switzerland : Springer, [2022]
Pediatric nephropathology & childhood kidney tumors
Liapis, Helen.
Cambridge, United Kingdom ; New York, NY : Cambridge University Press, 2022.
Translational strategies for autosomal recessive and dominant polycystic kidney disease
Germino, Gregory G; Guay-Woodford, Lisa M; National Institutes of Health (US) Clinical Center.
[Bethesda, Md.] : [National Institutes of Health], [2021]
Cystic fibrosis : a multi-organ system approach
Davis, Stephanie D; Rosenfeld, Margaret; Chmiel, James; American Thoracic Society.
Cham, Switzerland : Humana Press : American Thoracic Society, [2020]
Medical genetics
Jorde, Lynn B; Carey, John C, 1946-; Bamshad, Michael J.
Sixth edition. Philadelphia, PA : Elsevier, [2020]
Modulator treatments for cystic fibrosis : effectiveness and value
Tice, Jeffrey A; Chapman, Rick M; Seidner, Matt; Pearson, Steven D; Rind, David M; Institute for Clinical and Economic Review.
[Boston, Massachusetts] : Institute for Clinical and Economic Review, April 27, 2020.
Nusinersen for adolescents and adults with spinal muscular atrophy : a review of clinical effectiveness
Janoudi, Ghayath; McCormack, Suzanne, (Research information specialist); Canadian Agency for Drugs and Technologies in Health.
Version: 1.0. Ottawa : Canadian Agency for Drugs and Technologies in Health, September 10, 2020.
Pharmacoeconomic review report (resubmission). Nusinersen (Spinraza) (Biogen Canada Inc.) : indication : treatment of patients with 5q spinal muscular atrophy.
Canadian Agency for Drugs and Technologies in Health.
Final (with redactions) Ottawa (ON) : CADTH, April 2019.
Clinical review report. Nitisinone (Nitisinone tablets) (Cycle pharmaceuticals ltd.).
Version: Final. Ottawa (ON) : Canadian Agency for Drugs and Technologies in Health, August 2018.
Clinical review report. Nusinersen (Spinraza) (Biogen Canada Inc.).
Version 1.0. Ottawa (ON) : Canadian Agency for Drugs and Technologies in Health, January 2018.
Nitisinone (MDK-nitisinone) : (MendeliKABS inc.) : indication : for the treatment of patients with hereditary tyrosinemia type 1 in combination with dietary restriction of tyrosine and phenylalanine.
Ottawa (ON) : Canadian Agency for Drugs and Technologies in Health, April 2018.
Nitisinone (Orfadin) (Sobi Canada Inc.).
Ottawa (ON) : CADTH, April 2018.
Pharmacoeconomic review report. Cysteamine delayed-release capsules (Procysbi), Horizon Pharma Ireland Ltd.
Ottawa (ON) : Canadian Agency for Drugs and Technologies in Health, February 2018.
Pharmacoeconomic review report. Nusinersen (Spinraza) (Biogen Canada Inc.).
Ottawa (ON) : Canadian Agency for Drugs and Technologies in Health, January 2018.
Retinal degenerative diseases : mechanisms and experimental therapy
Ash, John D; Anderson, Robert E (Robert Eugene); LaVail, Matthew M; Rickman, Catherine Bowes; Hollyfield, Joe G; Grimm, Christian, 1962-; International Symposium on Retinal Degenerations (17th 2016 Kyoto Japan).
Cham, Switzerland : Springer, [2018]
Case studies in movement disorders : common and uncommon presentations
Bhatia, Kailash; Erro, Roberto; Stamelou, Maria.
Cambridge, United Kingdom ; New York, NY : Cambridge University Press, 2017.
Fifth edition. Philadelphia, PA : Elsevier, [2016]
Ivacaftor (Kalydeco) 150 mg tablet : for treatment of cystic fibrosis with G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N, S549R, or G970R mutation.
Ottawa (ON) : Canadian Agency for Drugs and Technologies in Health, 2015 Jul.
Primary immunodeficiency disorders : a historic and scientific perspective
Etzioni, Amos; Ochs, Hans D, 1936-.
Oxford : Elsevier Academic Press, [2014]
Epithelial cell culture protocols
Randell, Scott H; Fulcher, M Leslie.
2nd ed. New York : Humana Press ; Springer, c2012.
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