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Springer Nature3
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✓Human Genetics3
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20151
20141
20001
H. Mathieu results 3 · Newest (Page 1/1, per page 25)
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Journal: Human Genetics ×Author: H. Mathieu ×Clear All Filters
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A genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1NARA Subscribed
Human Genetics · 2015 · Vol. 134 · Issue 11-12 · Springer
Mathieu Lemire; Conghui Qu; Lenora W. M. Loo; Syed H. E. Zaidi; Hansong Wang; Sonja I. Berndt; Stéphane Bézieau; Hermann Brenner; Peter T. Campbell; Andrew T. Chan; Jenny Chang-Claude; Mengmeng Du; Christopher K. Edlund; Steven Gallinger; Robert W. Haile; Tabitha A. Harrison; Michael Hoffmeister; John L. Hopper; Lifang Hou; Li Hsu; Eric J. Jacobs; Mark A. Jenkins; Jihyoun Jeon; Sébastien Küry; Li Li; Noralane M. Lindor; Polly A. Newcomb; John D. Potter; Gad Rennert; Anja Rudolph; Robert E. Schoen; Fredrick R. Schumacher; Daniela Seminara; Gianluca Severi; Martha L. Slattery; Emily White; Michael O. Woods; Michelle Cotterchio; Loïc Le Marchand; Graham Casey; Stephen B. Gruber; Ulrike Peters; Thomas J. Hudson
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X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndromeNARA Subscribed
Human Genetics · 2014 · Vol. 133 · Issue 5 · Springer
R. S. Møller; L. R. Jensen; S. M. Maas; J. Filmus; M. Capurro; C. Hansen; C. L. M. Marcelis; K. Ravn; J. Andrieux; M. Mathieu; M. Kirchhoff; O. K. Rødningen; N. de Leeuw; H. G. Yntema; G. Froyen; J. Vandewalle; K. Ballon; E. Klopocki; S. Joss; J. Tolmie; A. C. Knegt; A. M. Lund; H. Hjalgrim; A. W. Kuss; N. Tommerup; R. Ullmann; A. P. M. de Brouwer; P. Strømme; S. Kjaergaard; Z. Tümer; T. Kleefstra
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The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody diseaseNARA Subscribed
Human Genetics · 2000 · Vol. 106 · Issue 5 · Springer
Alex Odermatt; Kimby Barton; Vijay K. Khanna; Jean Mathieu; Diana Escolar; Thierry Kuntzer; George Karpati; David H. MacLennan
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