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17篇 您的检索式：作者名="Cobben JM"

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		题名	作者	年代	出处	被引量
	1	Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation:a case report显示文摘	Deurloo KL Cobben JM Heins YM	2004	Prenat Diagn2004，24，10：	1
	2	The clinical spectrum of complete FBN1allele deletions显示文摘	Hilhorst-Hofstee Y Hamel BC Verheij JB Rijlaarsdam ME Man-cini GM Cobben JM	2011	Eur J Hum Genet2011，19，3：	1
	3	Solitary median maxillary eentral incisor and congeni- tal nasal pyriform aperture stenosis combined with asymmetric cry- ing facies and postaxial lower limb reduction defects: a unique combination of features 显示文摘	Van Dijk FS van Thuijl HF Wermeskerken A van Rijn RR Cobben JM	2011	Eur J Med Genet2011，54，3：	1
	4	Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I 显示文摘	Cobben JM de Visser M Scheffer H	1993	J Neurol Neurosurg Psychiatry1993，56，3：	1
	5	PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy显示文摘	van der Steege G Grootscholten PM van der Vlies P Draaijers TG Osinga J Cobben JM	1995	Lancet1995，345，8955：	1
	6	Pectus excavatum and carina- turn 显示文摘	COBBEN JM OOSTRA R J VAN DIJK FS	2014	Eur J Med Genet2014，57，8：	1
	7	The EEC syndrome: A litera- ture study 显示文摘	Roelfsema NM Cobben JM	1996	Clin Dysmorphol1996，5，2：	1
	8	Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I显示文摘	Cobben JM de Visser M Scheffer H	1993	J Neurol Neurosurg Psychiatry1993，56，3：	1
	9	Homozygous deletion of the survival motor neuron 2 gent is a prognostic factor in sporadic ALS 显示文摘	Veldink JH van-den-Berg LH Cobben JM	2001	Neurology2001，56，6：	1
	10	First trimester diagnosis of splithand/foot by transvaginal ultrasound显示文摘	Haak MC Cobben JM van Vugt JM		0，，03：	1
	11	Prenatal diagno- sis of tetrasomy 9p in a 19-week-old fetus with Dandy- Walker malformation: a case report 显示文摘	Deurloo KL Cobben JM Heins YM	2004	Prenat Diagn2004，24，10：	1
	12	Osteogenesis imperfecta: clinical and genetic heterogeneity显示文摘	van Dijk FS Cobben JM Maugeri A	2012	Ned Tijdschr Geneesk2012，156，21：	1
	13	First trimester diagnosis of split hand /foot by transvaginal ultrasound 显示文摘	Haak MC Cobben JM Van Vugt JM	2001	Fatal Diagn Ther2001，16，：	1
	14	Osteogenesis imperfecta: A Review with clinical examples 显示文摘	van Dijk FS Cobben JM Kariminejad A	2011	Mol Syndromol2011，2，：	1
	15	Pfeiffer syndrome type 2: further delineation and review of the literature显示文摘	Plomp AS Hamel BC Cobben JM	1998	Am J Med Genet1998，75，：	1
	16	Array CGH onunstimulated blood does not detect all cases of Pallister-Killiansyndrome: Buccal smear analysis should remain the diagnosticprocedure of first choice显示文摘	Cobben JM Engelen M Polstra A	2013	Am J Med Genet A2013，161，6：	1
	17	Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy显示文摘	Cobben JM van der Steege G Grootseholten P et at	1995	Am J Hum Genet1995，57，4：	1

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