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1 . Academic Journal
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function
저자
by
Lacbawan, F
;
Solomon, B D
;
Roessler, E
;
El-Jaick, K
;
Domené, S
, et al.
소스
Journal of Medical Genetics
. Jun 01, 2009 46(6):389-398
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7 . Academic Journal
Pulmonary dysfunction in adults with nephropathic cystinosis.
저자
by
Anikster, Yair
;
Lacbawan, Felicitas
;
Brantly, Mark
;
Gochuico, Bernadette L.
;
Avila, Nilo A.
, et al.
소스
CHEST
. Feb2001, Vol. 119 Issue 2, p394-401. 8p.
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7 . Academic Journal
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts
저자
by
Haas, D
;
Morgenthaler, J
;
Lacbawan, F
;
Long, B
;
Runz, H
, et al.
소스
JOURNAL OF MEDICAL GENETICS
. May 01, 2007 44(5):298-305
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7 . Academic Journal
Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype
저자
by
Bendavid, C
;
Haddad, B R
;
Griffin, A
;
Huizing, M
;
Dubourg, C
, et al.
소스
JOURNAL OF MEDICAL GENETICS
. Jun 01, 2006 43(6):496-500
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7 .
Familial dementia caused by polymerization of mutant neuroserpin
저자
by
Davis, R L
;
Shrimpton, A E
;
Holohan, P D
;
Bradshaw, C
;
Feiglin, D
, et al.
소스
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7 . Academic Journal
A female infant with duplication of chromosome 2q33 to 2q37.3
저자
by
Slavotinek, AM
;
Boles, D
;
Lacbawan, F
.
소스
CLINICAL DYSMORPHOLOGY
; OCT 2003, 12 4, p251-p256, 6p.
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5 . Academic Journal
Report of a child with aortic aneurysm, Orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: Possible PHACE syndrome
저자
by
Slavotinek, AM
;
Dubovsky, E
;
Dietz, HC
;
Lacbawan, F
.
소스
AMERICAN JOURNAL OF MEDICAL GENETICS
; JUL 1 2002, 110 3, p283-p288, 6p.
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6 . Academic Journal
Association between conformational mutations in neuroserpin and onset and severity of dementia
저자
by
Davis, RL
;
Shrimpton, AE
;
Carrell, RW
;
Lomas, DA
;
Gerhard, L
, et al.
소스
LANCET
; JUN 29 2002, 359 9325, p2242-p2247, 6p.
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7 . Academic Journal
Familiar encephalopathy with neuroserpin inclusion bodies
저자
by
Davis, RL
;
Holohan, PD
;
Shrimpton, AE
;
Tatum, AH
;
Daucher, J
, et al.
소스
AMERICAN JOURNAL OF PATHOLOGY
; DEC 1999, 155 6, p1901-p1913, 13p.
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7 . Academic Journal
Familial dementia caused by polymlerization of mutant neurosergin
저자
by
Davis, RL
;
Shrimpton, AE
;
Holohan, PD
;
Bradshaw, C
;
Feiglin, D
, et al.
소스
NATURE
; SEP 23 1999, 401 6751, p376-p379, 4p.
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