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1 .
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
저자
by
Ali Al Asmari
;
Emmanuelle Szenker-Ravi
;
Carine Bonnard
;
Bruno Reversade
;
Laura Schultz-Rogers
, et al.
소스
Nature communications, 11(1):595. Nature Publishing Group
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Nature Communications, 11. Nature Publishing Group
Nature Communications, 11
Nature communications, vol 11, iss 1
Nature Communications 11(1), 595 (2020). doi:10.1038/s41467-020-14360-7
Nature Communications, 11, 1
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7 . Academic Journal
Genetic Association of MPPED2 and ACTN2 with Dental Caries.
저자
by
Stanley, B.O.C.
;
Feingold, E.
;
Cooper, M.
;
Vanyukov, M.M.
;
Maher, B.S.
, et al.
소스
Journal of Dental Research; Jul2014, Vol. 93 Issue 7, p626-632, 7p, 1 Color Photograph, 1 Chart, 1 Graph
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7 . Academic Journal
Objective and subjective measures of physical activity and their relationship to bone mineral content during late childhood: The Iowa bone development study
저자
by
Janz, K.F.
;
Levy, S.M.
;
Eichenberger Gilmore, J.M.
;
Letuchy, E.M.
;
Burns, T.L.
, et al.
소스
In
Bone
2007 40(6) Supplement 1:S52-S53
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7 . Academic Journal
Genetic and Environmental Factors Associated with Dental Caries in Children: The Iowa Fluoride Study.
저자
by
Wang, X.
;
Willing, M.C.
;
Marazita, M.L.
;
Wendell, S.
;
Warren, J.J.
, et al.
소스
Caries Research
. 2012, Vol. 46 Issue 3, p177-184. 8p. 6 Charts, 1 Graph.
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7 . Periodical
Heterogeneous basis of the type VIB form of Ehlers–Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylationPreliminary reports of this study were presented at the Annual Meeting of the Society for Investigative Dermatology, Los Angeles, 2002 (Yeowell HN, Walker LC, Marini JC, Cabral WA, Willing MC, Pals G, Kitamura E, Yamauchi M. 2002. J Invest Dermatol (Abstr.)119:266) and at the Annual Meeting of the American Society of Human Genetics, San Diego, 2001 (Yeowell HN, Walker LC, Willing M, Marini JC, Cabral WA, Kitamura E, Yamauchi M. 2001 Am J Hum Genet (Abstr.)69:609).
저자
by
Walker, L.C.
;
Overstreet, M.A.
;
Willing, M.C.
;
Marini, J.C.
;
Cabral, W.A.
, et al.
소스
American Journal of Medical Genetics. Part A; December 2004, Vol. 131 Issue: 2 p155-162, 8p
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7 . Periodical
A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro-α1(V) chains results in the gravis form of the ehlers-danlos syndrome (Type 1)
저자
by
Wenstrup, R.J.
;
Langland, G.
;
Willing, M.C.
;
D'Souza, V.
;
Cole, W.G.
.
소스
Matrix Biology; 1996, Vol. 15 Issue: 3 p174-174, 1p
Full Text (ScienceDirect)
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