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1
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy
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A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy

American journal of medical genetics. Part A, 2013-07, Vol.161A (7), p.1690-1694 [Peer Reviewed Journal]

Copyright © 2013 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35935 ;PMID: 23687085

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2
Inverse association between severe nausea and vomiting in pregnancy and some congenital abnormalities
Inverse association between severe nausea and vomiting in pregnancy and some congenital abnormalities
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Inverse association between severe nausea and vomiting in pregnancy and some congenital abnormalities

American journal of medical genetics. Part A, 2006-03, Vol.140A (5), p.453-462 [Peer Reviewed Journal]

Copyright © 2006 Wiley‐Liss, Inc. ;2006 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.31097 ;PMID: 16470733

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3
Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)
Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)
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Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)

American journal of medical genetics. Part A, 2008-07, Vol.146A (14), p.1815-1819 [Peer Reviewed Journal]

Copyright © 2008 Wiley‐Liss, Inc. ;2008 INIST-CNRS ;2008 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32407 ;PMID: 18553555

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4
Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome
Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome
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Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome

American journal of medical genetics. Part A, 2013-06, Vol.161A (6), p.1386-1389 [Peer Reviewed Journal]

Copyright © 2013 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35864 ;PMID: 23613382

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5
Non-immune hydrops fetalis: A prospective study of 53 cases
Non-immune hydrops fetalis: A prospective study of 53 cases
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Non-immune hydrops fetalis: A prospective study of 53 cases

American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.3078-3086 [Peer Reviewed Journal]

2013 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.36171 ;PMID: 24039125

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6
Ectopia lentis as the presenting and primary feature in Marfan syndrome
Ectopia lentis as the presenting and primary feature in Marfan syndrome
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Ectopia lentis as the presenting and primary feature in Marfan syndrome

American journal of medical genetics. Part A, 2011-11, Vol.155A (11), p.2661-2668 [Peer Reviewed Journal]

Copyright © 2011 Wiley Periodicals, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.34245 ;PMID: 21932315

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7
Hereditary hemorrhagic telangiectasia and risks for adverse pregnancy outcomes
Hereditary hemorrhagic telangiectasia and risks for adverse pregnancy outcomes
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Hereditary hemorrhagic telangiectasia and risks for adverse pregnancy outcomes

American journal of medical genetics. Part A, 2012-08, Vol.158A (8), p.2009-2014 [Peer Reviewed Journal]

Copyright © 2012 Wiley Periodicals, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35458 ;PMID: 22711524

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8
Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation
Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation
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Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation

American journal of medical genetics. Part A, 2010-11, Vol.152A (11), p.2861-2864 [Peer Reviewed Journal]

Copyright © 2010 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;2010 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33687 ;PMID: 20979192

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9
7q11.23 Duplication syndrome: Physical characteristics and natural history
7q11.23 Duplication syndrome: Physical characteristics and natural history
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7q11.23 Duplication syndrome: Physical characteristics and natural history

American journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.2916-2935 [Peer Reviewed Journal]

2015 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37340 ;PMID: 26333794

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10
Male sex bias in placental dysfunction
Male sex bias in placental dysfunction
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Male sex bias in placental dysfunction

American journal of medical genetics. Part A, 2012-04, Vol.158A (4), p.779-783 [Peer Reviewed Journal]

Copyright © 2012 Wiley Periodicals, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35250 ;PMID: 22407866

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11
Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: Autosomal dominant or X‐linked syndrome?
Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: Autosomal dominant or X‐linked syndrome?
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Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: Autosomal dominant or X‐linked syndrome?

American journal of medical genetics. Part A, 2009-12, Vol.149A (12), p.2762-2764 [Peer Reviewed Journal]

Copyright © 2009 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32816 ;PMID: 19921636

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12
Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease
Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease
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Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease

American journal of medical genetics. Part A, 2010-05, Vol.152A (5), p.1257-1262 [Peer Reviewed Journal]

Copyright © 2010 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33378 ;PMID: 20425831

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13
Vitamin A deficiency in an infant with PAGOD syndrome
Vitamin A deficiency in an infant with PAGOD syndrome
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Vitamin A deficiency in an infant with PAGOD syndrome

American journal of medical genetics. Part A, 2009-10, Vol.149A (10), p.2241-2247 [Peer Reviewed Journal]

Copyright © 2009 Wiley‐Liss, Inc. ;2009 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32998 ;PMID: 19760653

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14
Associated malformations in congenital diaphragmatic hernia cases in the last 15 years in a tertiary referral institute
Associated malformations in congenital diaphragmatic hernia cases in the last 15 years in a tertiary referral institute
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Associated malformations in congenital diaphragmatic hernia cases in the last 15 years in a tertiary referral institute

American journal of medical genetics. Part A, 2006-11, Vol.140A (21), p.2298-2304 [Peer Reviewed Journal]

Copyright © 2006 Wiley‐Liss, Inc. ;2006 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.31470 ;PMID: 17036345

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15
A prospective study of PHACE syndrome in infantile hemangiomas: Demographic features, clinical findings, and complications
A prospective study of PHACE syndrome in infantile hemangiomas: Demographic features, clinical findings, and complications
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A prospective study of PHACE syndrome in infantile hemangiomas: Demographic features, clinical findings, and complications

American journal of medical genetics. Part A, 2006-05, Vol.140A (9), p.975-986 [Peer Reviewed Journal]

Copyright © 2006 Wiley‐Liss, Inc. ;2006 INIST-CNRS ;2006 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.31189 ;PMID: 16575892

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16
Physical health problems in adults with Prader-Willi syndrome
Physical health problems in adults with Prader-Willi syndrome
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Physical health problems in adults with Prader-Willi syndrome

American journal of medical genetics. Part A, 2011-09, Vol.155A (9), p.2112-2124 [Peer Reviewed Journal]

Copyright © 2011 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;Copyright © 2011 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.34171 ;PMID: 21834028

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17
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the PCNT gene
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the PCNT gene
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Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the PCNT gene

American journal of medical genetics. Part A, 2009-11, Vol.149A (11), p.2452-2456 [Peer Reviewed Journal]

Copyright © 2009 Wiley‐Liss, Inc. ;2009 INIST-CNRS ;Copyright 2009 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33035 ;PMID: 19839044

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18
Maternal hypertension and risk for hypospadias in offspring
Maternal hypertension and risk for hypospadias in offspring
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Maternal hypertension and risk for hypospadias in offspring

American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3125-3132 [Peer Reviewed Journal]

2016 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37947 ;PMID: 27570224

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19
Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: Expanding the phenotype to include vascular anomalies
Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: Expanding the phenotype to include vascular anomalies
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Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: Expanding the phenotype to include vascular anomalies

American journal of medical genetics. Part A, 2011-03, Vol.155 (3), p.577-581 [Peer Reviewed Journal]

Copyright © 2011 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33104 ;PMID: 21337683

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20
Characterization of a new X‐linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus
Characterization of a new X‐linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus
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Characterization of a new X‐linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

American journal of medical genetics. Part A, 2009-11, Vol.149A (11), p.2469-2478 [Peer Reviewed Journal]

Copyright © 2009 Wiley‐Liss, Inc. ;2009 INIST-CNRS ;Copyright 2009 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33071 ;PMID: 19842190

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