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1 . Academic Journal
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.
저자
by
McInerney‐Leo, Aideen M.
;
Wheeler, Lawrie
;
Marshall, Mhairi S.
;
Anderson, Lisa K.
;
Zankl, Andreas
, et al.
소스
American Journal of Medical Genetics. Part A; Jun2017, Vol. 173 Issue 6, p1698-1704, 7p
Scopus
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7 . Academic Journal
Tmem2 Regulates Embryonic Vegf Signaling by Controlling Hyaluronic Acid Turnover.
저자
by
De Angelis, Jessica E.
;
Lagendijk, Anne K.
;
Chen, Huijun
;
Tromp, Alisha
;
Bower, Neil I.
, et al.
소스
Developmental Cell
. Jan2017, Vol. 40 Issue 2, p123-136. 14p.
Full Text (ScienceDirect)
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7 . Academic Journal
INPP5E regulates phosphoinositide-dependent cilia transition zone function.
저자
by
Dyson, Jennifer M.
;
Conduit, Sarah E.
;
Feeney, Sandra J.
;
Hakim, Sandra
;
Sriratana, Absorn
, et al.
소스
Journal of Cell Biology
. Jan2017, Vol. 216 Issue 1, p247-263. 17p.
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7 . Academic Journal
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
저자
by
McInerney‐Leo, Aideen M.
;
Harris, Jessica E.
;
Gattas, Michael
;
Peach, Elizabeth E.
;
Sinnott, Stephen
, et al.
소스
Human Mutation; Jul2016, Vol. 37 Issue 7, p695-702, 8p
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7 . Periodical
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease
저자
by
Lu, Hao
;
Galeano, Maria C Rondón
;
Ott, Elisabeth
;
Kaeslin, Geraldine
;
Kausalya, P Jaya
, et al.
소스
Nature Genetics; July 2017, Vol. 49 Issue: 7 p1025-1034, 10p
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7 . Academic Journal
Unmasking the ciliopathies: craniofacial defects and the primary cilium.
저자
by
Cortés, Claudio R.
;
Metzis, Vicki
;
Wicking, Carol
.
소스
WIREs: Developmental Biology; Nov2015, Vol. 4 Issue 6, p637-653, 17p
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5 . Academic Journal
Attenuated sensing of SHH by Ptch1 underlies evolution of bovine limbs
저자
by
Lopez-Rios, Javier
;
Duchesne, Amandine
;
Speziale, Dario
;
Andrey, Guillaume
;
Peterson, Kevin A.
, et al.
소스
Nature
. Jul 03, 2014 511(7507):46-51
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7 . Academic Journal
Primary cilia function regulates the length of the embryonic trunk axis and urogenital field in mice.
저자
by
Wainwright, Elanor N
;
Svingen, Terje
;
Ng, Ee Ting
;
Wicking, Carol
;
Koopman, Peter
.
소스
Developmental Biology
. Nov2014, Vol. 395 Issue 2, p342-354. 13p.
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7 . Book
Hedgehog Signaling
저자
by
Wicking, Carol
.
소스
Encyclopedia of Cancer. 2008, v. 2, p1325-1327.
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3 . Academic Journal
Patched1 is required in neural crest cells for the prevention of orofacial clefts
저자
by
Metzis, Vicki
;
Courtney, Andrew D.
;
Kerr, Markus C.
;
Ferguson, Charles
;
Rondón Galeano, Maria C.
, et al.
소스
Human Molecular Genetics
. Dec 15, 2013 22(24):5026-5035
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