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Congenital hydronephrosis: Prenatal diagnosis and epidemiology in Europe

Journal of pediatric urology, 2009-02, Vol.5 (1), p.47-52

2009

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Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

Journal of medical genetics, 2006-02, Vol.43 (2), p.148-152

2006

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External birth defects in Southern Vietnam: a population-based study at the grassroots level of health care in Binh Thuan Province

BMC pediatrics, 2013-04, Vol.13 (1), p.67-67, Article 67

2013

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Associated anomalies in multi-malformed infants with cleft lip and palate: An epidemiologic study of nearly 6 million births in 23 EUROCAT registries

American journal of medical genetics. Part A, 2007-03, Vol.143A (6), p.528-537

2007

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Descriptive epidemiology of Cornelia de Lange syndrome in Europe

American journal of medical genetics. Part A, 2008-01, Vol.146A (1), p.51-59

2008

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Major Decrease in the Incidence of Trisomy 21 at Birth in South Belgium: Mass Impact of Triple Test?

European journal of human genetics : EJHG, 2001, Vol.9 (1), p.1-4

2001

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A rare case of de novo distal 19q trisomy prenatally diagnosed

Prenatal diagnosis, 2004-10, Vol.24 (10), p.822-827

2004

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Partial proximal 10q trisomy: a new case associated with biliary atresia

Hereditas, 2007-10, Vol.144 (5), p.191-194

2007

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Genetic causes of hydrops fetalis

Pediatrics (Evanston), 1992-01, Vol.89 (1), p.81-86

1992

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Lethal femoral-facial syndrome: a case with unusual manifestations

Journal of medical genetics, 1997-06, Vol.34 (6), p.518-519

1997

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Prenatal diagnosis of six major cardiac malformations in Europe - A population based study

Acta obstetricia et gynecologica Scandinavica, 2001-03, Vol.80 (3), p.224-228

Garne, Ester

2001

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Bruck syndrome: neonatal presentation and natural course in three patients

Pediatric radiology, 1998-10, Vol.28 (10), p.781-789

1998

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Two cases of maternal antenatal splenic rupture and hypotension associated with moebius syndrome and cerebral palsy in offspring : Further evidence for a utero placental vascular aetiology for the Moebius syndrome and some cases of cerebral palsy

European journal of pediatrics, 1996-09, Vol.155 (9), p.800-804

1996

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Demonstration of McCune-Albright mutations in the liver of children with high gammaGT progressive cholestasis

Journal of hepatology, 2000-01, Vol.32 (1), p.154-158

2000

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The Baller-Gerold syndrome

Journal of medical genetics, 1992-04, Vol.29 (4), p.266-268

1992

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Vasopressin and gonadotropin deficiency in a boy with the ectrodactyly‐ectodermal dysplasia‐clefting syndrome

Acta Paediatrica, 1992-04, Vol.81 (4), p.365-367

1992

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Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: Review and delineation of the Cerebro-Acro-Visceral Early lethality (CAVE) multiplex syndrome

American journal of medical genetics, 1992-07, Vol.43 (4), p.669-677

1992

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Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome?

Clinical genetics, 1992-01, Vol.41 (1), p.22-24

1992

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Hypoglossia-hypodactyly syndrome with hydrocephalus: a clue to the aetiology?

Journal of medical genetics, 1991-07, Vol.28 (7), p.490-491

1991

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Down's syndrome in Wallonia (South Belgium), 1971-1978: cytogenetics and incidence

Human genetics, 1980-01, Vol.54 (2), p.243-250

1980

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Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal β-oxidation

Neuromuscular disorders : NMD, 1992, Vol.2 (3), p.217-224

1992

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Placental alkaline phosphatase in developing normal and abnormal gonads and in germ-cell tumours

Virchows Archiv A Pathological Anatomy and Histopathology, 1990-01, Vol.417 (1), p.67-72

1990

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Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance

Clinical genetics, 1990-11, Vol.38 (5), p.359-361

1990

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The Marshall-Smith syndrome

European journal of pediatrics, 1990-11, Vol.150 (1), p.54-55

1990

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Holoprosencephaly and postaxial polydactyly with normal chromosomes. Another observation of a new malformation syndrome; a case report

European journal of obstetrics & gynecology and reproductive biology, 1990-07, Vol.36 (1), p.161-165

1990

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Congenital hydronephrosis: Prenatal diagnosis and epidemiology in Europe

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

External birth defects in Southern Vietnam: a population-based study at the grassroots level of health care in Binh Thuan Province

Associated anomalies in multi-malformed infants with cleft lip and palate: An epidemiologic study of nearly 6 million births in 23 EUROCAT registries

Descriptive epidemiology of Cornelia de Lange syndrome in Europe

Major Decrease in the Incidence of Trisomy 21 at Birth in South Belgium: Mass Impact of Triple Test?

A rare case of de novo distal 19q trisomy prenatally diagnosed

Partial proximal 10q trisomy: a new case associated with biliary atresia

Genetic causes of hydrops fetalis

Lethal femoral-facial syndrome: a case with unusual manifestations

Prenatal diagnosis of six major cardiac malformations in Europe - A population based study

Bruck syndrome: neonatal presentation and natural course in three patients

Two cases of maternal antenatal splenic rupture and hypotension associated with moebius syndrome and cerebral palsy in offspring : Further evidence for a utero placental vascular aetiology for the Moebius syndrome and some cases of cerebral palsy

Demonstration of McCune-Albright mutations in the liver of children with high gammaGT progressive cholestasis

The Baller-Gerold syndrome

Vasopressin and gonadotropin deficiency in a boy with the ectrodactyly‐ectodermal dysplasia‐clefting syndrome

Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: Review and delineation of the Cerebro-Acro-Visceral Early lethality (CAVE) multiplex syndrome

Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome?

Hypoglossia-hypodactyly syndrome with hydrocephalus: a clue to the aetiology?

Down's syndrome in Wallonia (South Belgium), 1971-1978: cytogenetics and incidence

Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal β-oxidation

Placental alkaline phosphatase in developing normal and abnormal gonads and in germ-cell tumours

Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance

The Marshall-Smith syndrome

Holoprosencephaly and postaxial polydactyly with normal chromosomes. Another observation of a new malformation syndrome; a case report

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