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26篇 您的检索式：作者名="Drunat"

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	题名	作者	年代	出处	被引量
1	Quantification of TEL-AML1 transcript for minimal residual disease assessment in childhood acute lymphoblastic leukaemia 显示文摘	Drunat S Olivi M Brunie G	2001	Br J Haematol2001，114，2：	1
2	Homocysteine-induced decrease in endothelin-1 production is initiated at the extracellular level and involves oxidative products 显示文摘	Drunat S Moatti N Paul JL	2001	Eur J Biochem2001，268，：	1
3	Refinement of the 6q chromo- somal region implicated in transient neonatal diabetes 显示文摘	Cave H Polak M Drunat S	2000	Diabe- tes2000，49，1：	1
4	Hereditary renal amy- loidosis caused by a new variant lysozyme W64R in a French family显示文摘	Valleix S Drunat S Philit J B		0，，03：	1
5	Neuropsychological dysfunc- tion and developmental defects associated with genetic changes in infants with neonatal diabetes menitus: a prospective cohort study 显示文摘	Busiab K Drunat S Vaivre-Douret L et at	2013	Lancet Diabetes Endoerino12013，1，3：	1
6	Homocysteine is the only plasma thiol associated with carotid artery remodeling 显示文摘	Demuth K Drunat S Girerd X	2002	Atherosclerosis2002，165，1：	1
7	Refinement of the 6q chromosomal region implicated in transient neonatal diabetes显示文摘	Cave H Polak M Drunat S		0，，01：	1
8	Genotype-pheno- type relationship in 2 SMA III patients with novel muta- tions in the Tudor domain 显示文摘	Fraidakis M J Drunat S Maisonobe T	2012	Neurology2012，78，8：	1
9	Identification of genecopy number variations in patients with mental retardation using array-CGH:Novel syndroms in a large French series显示文摘	Jaillard S Drunat S Bendavid C	2010	Eur J Med Gennt2010，53，2：	1
10	Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies显示文摘	Delahaye A Bitoun P Drunat S	2012	Eur J Hum Genet2012，20，5：	1
11	A novel variant ofgranular corneal dystrophy caused by association of 2 mutationsin the TGFBI gene-R124L and DeltaT125-DeltaE126显示文摘	Dighiero P Drunat S D'Hermies F	2000	ArchOphthalmol2000，118，6：	1
12	Homozy- gous ~MN1 e~rts 1 - 6 deletion : pitfalls in genetic counseling and ganaral rt~t~t~raraendntit~t~s for spinal muscular atrophy molecular di- agnosis显示文摘	Thmtv~rt - Robinet C Drunat S Saugier Veber P	2012	Am J M~d Genet A2012，158，7：	1
13	Identification of genecopy number variations in patints with mental retardation using array-CGH:Novel syndroms in a large French series显示文摘	Jaillard S Drunat S Bendavid C	2010	EurJ Med Gennt2010，53，2：	1
14	A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126 显示文摘	Dighiero P Drunat S D'Hermies F	2000	Arch Ophthalmol2000，118，6：	1
15	Refinement of the 6q chromosomal region implicated in transient neonatal diabetes 显示文摘	Cave H Polak M Drunat S	2000	Diabetes2000，49，1：	1
16	Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies显示文摘	Delahaye A Bitoun P Drunat S	2012	Eur J Hum Genet2012，20，5：	1
17	Duplication of the 15qll-q13 region: clinical and genetic study of 30 new cases 显示文摘	AI Ageeli E Drunat S Delanoe C	2014	Eur J Med Genet2014，57，1：	1
18	A new mutation(A546T) of the bigh3 gene responsible for a French lattice corneal dystrophy type IIIA显示文摘	Dighiero P Drunat S Ellies P	2000	Am J Ophthalmol2000，129，：	1
19	A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type ⅢA显示文摘	Dighiero P Drunat S Ellies P D' Hermies F Savoldelli M Legeais JM	2000	Am J Ophthalmol2000，129，3：	1
20	A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126显示文摘	Dighiero P Drunat S D' Hermies F Renard G Delpech M Valleix S	2000	Arch Ophthalmol2000，118，6：	1

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