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1 . Academic Journal
THE LOW FREQUENCY SARAH BLOOD GROUP ANTIGEN: EVIDENCE FOR A NEW MNS ANTIGEN: 2C-S10-05
저자
by
McBean, R SM
;
Hyland, C A
;
Roscioli, T
;
Flower, R L
.
소스
Vox Sanguinis
. Jun 01, 2014 107 Suppl 1:17-17
Web of Science
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6 . Academic Journal
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study
저자
by
Makrythanasis, P
;
van Bon, B W
;
Steehouwer, M
;
Rodríguez-Santiago, B
;
Simpson, M
, et al.
소스
Clinical Genetics
. Dec 01, 2013 84(6):539-545
Web of Science
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7 . Academic Journal
A homozygous FKRP start codon mutation is associated with Walker–Warburg syndrome, the severe end of the clinical spectrum
저자
by
van Reeuwijk, J
;
Olderode-Berends, M JW
;
van den Elzen, C
;
Brouwer, O F
;
Roscioli, T
, et al.
소스
Clinical Genetics
. Sep 01, 2010 78(3):275-281
Web of Science
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7 . Academic Journal
Discrepancies in upper and lower limb patterning in split hand foot malformation
저자
by
Elliott, A M
;
Reed, M H
;
Roscioli, T
;
Evans, J A
.
소스
Clinical Genetics
. Nov 01, 2005 68(5):408-423
Web of Science
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6 . Academic Journal
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain
저자
by
McGillivray, G
;
Savarirayan, R
;
Cox, T C
;
Stojkoski, C
;
McNeil, R
, et al.
소스
JOURNAL OF MEDICAL GENETICS
. Aug 01, 2005 42(8):656-662
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7 . Periodical
Do Craniosynostosis Syndrome Phenotypes with Both FGFR2 and TWIST Mutations have a Worse Clinical Outcome?
저자
by
Anderson, P J
;
Netherway, D J
;
Cox, T C
;
Roscioli, T
;
David, D J
.
소스
Journal of Craniofacial Surgery; January 2006, Vol. 17 Issue: 1 p166-172, 7p
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7 .
Phenotypic Variability In Mabry Syndrome: Evidence For Genetic Heterogeneity
저자
by
Thompson, M D
;
Roscioli, T
;
Nezarati, M M
;
Phillips, J A
;
Krawitz, P
, et al.
소스
Bulletin du GIRSO; Vol. 51 No 1 (2012); e31
Bulletin du GIRSO; Vol. 51 No. 1 (2012): The 6th International Alkaline Phosphatase and Hypophosphatasia Symposium; e31
RCUB. Revistas Científicas de la Universidad de Barcelona
instname
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7 .
SP110 REGULATES NUCLEAR ORPHAN RECEPTOR NUR77-DRIVEN APOPTOSIS IN T CELLS
저자
by
Recher, M
;
Deenick, E
;
Al Herz, W
;
Frugoni, F
;
Lee, Y
, et al.
소스
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7 .
Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis
저자
by
Anderson, PJ
;
Cox, TC
;
Roscioli, T
;
Elakis, G
;
Smithers, Lisa Gaye
, et al.
소스
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7 . Academic Journal
Pallister-Hall syndrome: Unreported skeletal features of a GLI3 mutation
저자
by
Roscioli, T
;
Kennedy, D
;
Cui, J
;
Fonseca, B
;
Watson, GF
, et al.
소스
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
; AUG 1 2005, 136A 4, p390-p394, 5p.
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