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1. Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease
作者:Sara D Khangura (1)
Maria D Karaceper (1)
Yannis Trakadis (2)
John J Mitchell (2)
Pranesh Chakraborty (1) (3)
Kylie Tingley (1)
Doug Coyle (1)
Scott D Grosse (4)
Jonathan B Kronick (5) (6)
Anne-Marie Laberge (7)
Julian Little (1)
Chitra Prasad (8)
Lindsey Sikora (1)
Komudi Siriwardena (6)
Rebecca Sparkes (9)
Kathy N Speechley (8)
Sylvia Stockler (10)
Brenda J Wilson (1)
Kumanan Wilson (11)
Reem Zayed (1)
Beth K Potter (1)
on behalf of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)

1. University of Ottawa
; 451 Smyth Road ; Ottawa ; ON ; Canada
2. Montreal Children鈥檚 Hospital
; McGill University Health Centre ; 2300 Tupper Street ; Montreal ; QC ; Canada
3. Newborn Screening Ontario
; Children鈥檚 Hospital of Eastern Ontario ; 415 Smyth Road ; Ottawa ; ON ; Canada
4. National Center on Birth Defects and Developmental Disabilities
; Centers for Disease Control and Prevention ; 1600 Clifton Road ; Atlanta ; GA ; USA
5. University of Toronto
; 27 King鈥檚 College Circle ; Toronto ; ON ; Canada
6. Hospital for Sick Children
; 555 University Avenue ; Toronto ; ON ; Canada
7. Centre Hospitalier Universitaire Sainte-Justine
; 3175 Chemin de la C么te-Sainte-Catherine ; Montreal ; QC ; Canada
8. Western University
; 1151 Richmond Street ; London ; ON ; Canada
9. Alberta Children鈥檚 Hospital
; 2888 Shaganappi Trail NW ; Calgary ; AB ; Canada
10. British Columbia Children鈥檚 Hospital
; 4480 Oak Street ; Vancouver ; BC ; Canada
11. Ottawa Hospital Research Institute
; 725 Parkdale Avenue ; Ottawa ; ON ; Canada
刊名:BMC Pediatrics
出版年:2015
2. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
7. Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA
作者:Madalene A. Earp (1)
Linda E. Kelemen (2) (3)
Anthony M. Magliocco (4)
Kenneth D. Swenerton (5)
Georgia Chenevix-Trench (6)
Yi Lu (6)
Alexander Hein (8)
Arif B. Ekici (9)
Matthias W. Beckmann (8)
Peter A. Fasching (10) (8)
Diether Lambrechts (11) (12)
Evelyn Despierre (13)
Ignace Vergote (13)
Sandrina Lambrechts (13)
Jennifer A. Doherty (14) (15)
Mary Anne Rossing (15) (16)
Jenny Chang-Claude (17)
Anja Rudolph (17)
Grace Friel (18)
Kirsten B. Moysich (18)
Kunle Odunsi (18)
Lara Sucheston-Campbell (18)
Galina Lurie (19)
Marc T. Goodman (20)
Michael E. Carney (19)
Pamela J. Thompson (20)
Ingo B. Runnebaum (21)
Matthias Dürst (21)
Peter Hillemanns (22)
Thilo D?rk (23)
Natalia Antonenkova (24)
Natalia Bogdanova (23)
Arto Leminen (25)
Heli Nevanlinna (25)
Liisa M. Pelttari (25)
Ralf Butzow (25) (26)
Clareann H. Bunker (27)
Francesmary Modugno (27) (28) (29)
Robert P. Edwards (28) (29)
Roberta B. Ness (30)
Andreas du Bois (31) (32)
Florian Heitz (31) (32)
Ira Schwaab (33)
Philipp Harter (31) (32)
Beth Y. Karlan (34)
Christine Walsh (34)
Jenny Lester (34)
Allan Jensen (35)
Susanne K. Kj?r (35) (36)
Claus K. H?gdall (36)
Estrid H?gdall (35) (37)
Lene Lundvall (36)
Thomas A. Sellers (38)
Brooke L. Fridley (39)
Ellen L. Goode (40)
Julie M. Cunningham (41)
Robert A. Vierkant (42)
Graham G. Giles (43) (44)
Laura Baglietto (43) (44)
Gianluca Severi (43) (44)
Melissa C. Southey (45)
Dong Liang (46)
Xifeng Wu (47)
Karen Lu (48)
Michelle A. T. Hildebrandt (47)
Douglas A. Levine (49)
Maria Bisogna (49)
Joellen M. Schildkraut (50) (51)
Edwin S. Iversen (51) (52)
Rachel Palmieri Weber (50)
Andrew Berchuck (53)
Daniel W. Cramer (54) (55)
Kathryn L. Terry (54) (55)
Elizabeth M. Poole (55) (56)
Shelley S. Tworoger (55) (56)
Elisa V. Bandera (57)
Urmila Chandran (57)
Irene Orlow (58)
Sara H. Olson (58)
Elisabeth Wik (59) (60)
Helga B. Salvesen (60) (61)
Line Bjorge (60) (61)
Mari K. Halle (60) (61)
Anne M. van Altena (62)
Katja K. H. Aben (63) (64)
Lambertus A. Kiemeney (63) (65)
Leon F. A. G. Massuger (62)
Tanja Pejovic (66) (67)
Yukie T. Bean (66) (67)
Cezary Cybulski (68)
Jacek Gronwald (68)
Jan Lubinski (68)
Nicolas Wentzensen (69)
Louise A. Brinton (69)
Jolanta Lissowska (70)
Montserrat Garcia-Closas (71) (72)
Ed Dicks (73)
Joe Dennis (74)
Douglas F. Easton (74)
Honglin Song (73)
Jonathan P. Tyrer (73)
Paul D. P. Pharoah (73) (74)
Diana Eccles (75)
Ian G. Campbell (45) (7) (76)
Alice S. Whittemore (77)
Valerie McGuire (77)
Weiva Sieh (77)
Joseph H. Rothstein (77)
James M. Flanagan (78)
James Paul (79)
Robert Brown (78)
Catherine M. Phelan (38)
Harvey A. Risch (80)
John R. McLaughlin (81)
Steven A. Narod (82)
Argyrios Ziogas (83)
Hoda Anton-Culver (83)
Aleksandra Gentry-Maharaj (84)
Usha Menon (84)
Simon A. Gayther (85)
Susan J. Ramus (85)
Anna H. Wu (85)
Celeste L. Pearce (85)
Malcolm C. Pike (58) (85)
Agnieszka Dansonka-Mieszkowska (86)
Iwona K. Rzepecka (86)
Lukasz M. Szafron (86)
Jolanta Kupryjanczyk (86)
Linda S. Cook (2) (87) (88)
Nhu D. Le (89)
Angela Brooks-Wilson (1) (90)
刊名:Human Genetics
出版年:2014
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