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Anomalies chromosomiques

Briard, Marie-Louise ; Morichon-Delvallez, Nicole

Elsevier BV ; 2006

In: EMC - Traité de médecine AKOS Vol. 1, No. 1 ( 2006-1), p. 1-5

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In: EMC - Traité de médecine AKOS, Elsevier BV, Vol. 1, No. 1 ( 2006-1), p. 1-5

Type of Medium: Online Resource

ISSN: 1634-6939

URL: Article

DOI: 10.1016/S1634-6939(06)75588-0

Language: English

Publisher: Elsevier BV

Publication Date: 2006

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CGH analysis in a cohort of 17 chromosomally normal fetuses with an increased nuchal translucency

Brisset, Sophie ; Romana, Serge ; Texier, Isabelle ; [et al.]

Wiley ; 2003

In: Prenatal Diagnosis Vol. 23, No. 12 ( 2003-12-15), p. 1017-1018

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In: Prenatal Diagnosis, Wiley, Vol. 23, No. 12 ( 2003-12-15), p. 1017-1018

Type of Medium: Online Resource

ISSN: 0197-3851 , 1097-0223

URL: Issue

URL: Journal

URL: Article

DOI: 10.1002/pd.v23:12

DOI: 10.1002/(ISSN)1097-0223

DOI: 10.1002/pd.677

RVK:

XA 10000

Language: English

Publisher: Wiley

Publication Date: 2003

detail.hit.zdb_id: 1491217-X

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Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

Golzio, Christelle ; Guirchoun, Jessica ; Ozilou, Catherine ; [et al.]

Wiley ; 2006

In: Prenatal Diagnosis Vol. 26, No. 13 ( 2006-12), p. 1201-1205

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In: Prenatal Diagnosis, Wiley, Vol. 26, No. 13 ( 2006-12), p. 1201-1205

Type of Medium: Online Resource

ISSN: 0197-3851 , 1097-0223

URL: Issue

URL: Journal

URL: Article

DOI: 10.1002/pd.v26:13

DOI: 10.1002/(ISSN)1097-0223

DOI: 10.1002/pd.1588

RVK:

XA 10000

Language: English

Publisher: Wiley

Publication Date: 2006

detail.hit.zdb_id: 1491217-X

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Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

Malan, Valérie ; Chevallier, Suzanne ; Soler, Gwendoline ; [et al.]

Springer Science and Business Media LLC ; 2010

In: European Journal of Human Genetics Vol. 18, No. 2 ( 2010-2), p. 227-232

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In: European Journal of Human Genetics, Springer Science and Business Media LLC, Vol. 18, No. 2 ( 2010-2), p. 227-232

Type of Medium: Online Resource

ISSN: 1018-4813 , 1476-5438

URL: Article

DOI: 10.1038/ejhg.2009.162

RVK:

XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2010

detail.hit.zdb_id: 2005160-8

SSG: 12

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Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q

Vance, Gail H. ; Nickerson, Catherine ; Sarnat, Lauren ; [et al.]

Wiley ; 1998

In: American Journal of Medical Genetics Vol. 76, No. 1 ( 1998-02-26), p. 51-57

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In: American Journal of Medical Genetics, Wiley, Vol. 76, No. 1 ( 1998-02-26), p. 51-57

Type of Medium: Online Resource

ISSN: 0148-7299 , 1096-8628

URL: Issue

URL: Journal

URL: Article

DOI: 10.1002/(SICI)1096-8628(19980226)76:1〈〉1.0.CO;2-R

DOI: 10.1002/(ISSN)1096-8628

DOI: 10.1002/(SICI)1096-8628(19980226)76:1〈51::AID-AJMG9〉3.0.CO;2-S

RVK:

WA 15000

RVK:

XA 18980

Language: English

Publisher: Wiley

Publication Date: 1998

detail.hit.zdb_id: 2143866-3

detail.hit.zdb_id: 2143867-5

detail.hit.zdb_id: 1493479-6

detail.hit.zdb_id: 2205916-7

SSG: 12

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Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis

Lebre, Anne-Sophie ; Morinière, Vincent ; Dunand, Olivier ; [et al.]

Springer Science and Business Media LLC ; 2009

In: European Journal of Human Genetics Vol. 17, No. 8 ( 2009-8), p. 1019-1023

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In: European Journal of Human Genetics, Springer Science and Business Media LLC, Vol. 17, No. 8 ( 2009-8), p. 1019-1023

Type of Medium: Online Resource

ISSN: 1018-4813 , 1476-5438

URL: Article

DOI: 10.1038/ejhg.2009.13

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XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2009

detail.hit.zdb_id: 2005160-8

SSG: 12

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Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

Rio, Marlène ; Malan, Valérie ; Boissel, Sarah ; [et al.]

Springer Science and Business Media LLC ; 2010

In: European Journal of Human Genetics Vol. 18, No. 3 ( 2010-3), p. 285-290

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In: European Journal of Human Genetics, Springer Science and Business Media LLC, Vol. 18, No. 3 ( 2010-3), p. 285-290

Type of Medium: Online Resource

ISSN: 1018-4813 , 1476-5438

URL: Article

DOI: 10.1038/ejhg.2009.159

RVK:

XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2010

detail.hit.zdb_id: 2005160-8

SSG: 12

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Functional disomy of the Xq28 chromosome region

Sanlaville, Damien ; Prieur, Marguerite ; de Blois, Marie-Christine ; [et al.]

Springer Science and Business Media LLC ; 2005

In: European Journal of Human Genetics Vol. 13, No. 5 ( 2005-5), p. 579-585

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In: European Journal of Human Genetics, Springer Science and Business Media LLC, Vol. 13, No. 5 ( 2005-5), p. 579-585

Type of Medium: Online Resource

ISSN: 1018-4813 , 1476-5438

URL: Article

DOI: 10.1038/sj.ejhg.5201384

RVK:

XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2005

detail.hit.zdb_id: 2005160-8

SSG: 12

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Trisomy 15 in chorionic villi and Prader‐Willi syndrome at birth

Morichon‐Delvallez, Nicole ; Mussat, Philippe ; Dumez, Yves ; [et al.]

Wiley ; 1993

In: Prenatal Diagnosis Vol. 13, No. 4 ( 1993-04), p. 307-308

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In: Prenatal Diagnosis, Wiley, Vol. 13, No. 4 ( 1993-04), p. 307-308

Type of Medium: Online Resource

ISSN: 0197-3851 , 1097-0223

URL: Issue

URL: Article

DOI: 10.1002/pd.v13:4

DOI: 10.1002/pd.1970130410

RVK:

XA 10000

Language: English

Publisher: Wiley

Publication Date: 1993

detail.hit.zdb_id: 1491217-X

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Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia

Quenum-Miraillet, Geneviève ; Malan, Valérie ; Martinovic, Jelena ; [et al.]

Wiley ; 2008

In: Prenatal Diagnosis Vol. 28, No. 1 ( 2008-01), p. 69-71

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In: Prenatal Diagnosis, Wiley, Vol. 28, No. 1 ( 2008-01), p. 69-71

Type of Medium: Online Resource

ISSN: 0197-3851 , 1097-0223

URL: Issue

URL: Journal

URL: Article

DOI: 10.1002/pd.v28:1

DOI: 10.1002/(ISSN)1097-0223

DOI: 10.1002/pd.1911

RVK:

XA 10000

Language: English

Publisher: Wiley

Publication Date: 2008

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