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Structural Gender Equality in Europe and Its Evolution Over the First Decade of the Twentyfirst Century

Social indicators research, 2016-05, Vol.127 (1), p.55-81

2016

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Changes in Alcohol Intake During Pregnancy in Spain, 1980 to 2014

Alcoholism, clinical and experimental research, 2019-11, Vol.43 (11), p.2367-2373

2019

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De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects

American journal of medical genetics. Part A, 2021-03, Vol.185 (3), p.877-883

2021

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Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

Orphanet journal of rare diseases, 2020-02, Vol.15 (1), p.44-44, Article 44

2020

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Using a health observance event to raise awareness: An assessment of World Birth Defects Day

Birth defects research, 2023-07, Vol.115 (12), p.1140-1150

2023

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Analysis of Mortality among Neonates and Children with Spina Bifida: An International Registry‐Based Study, 2001‐2012

Paediatric and perinatal epidemiology, 2019-11, Vol.33 (6), p.436-448

2019

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Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder

International journal of molecular sciences, 2022-08, Vol.23 (16), p.9480

2022

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Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980–2017

Birth defects research, 2024-02, Vol.116 (2), p.e2306-n/a

2024

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Tetralogy of Fallot in Spain: a nationwide registry-based mortality study across 36 years

Orphanet journal of rare diseases, 2019-04, Vol.14 (1), p.79-8, Article 79

2019

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Bladder exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature

American journal of medical genetics. Part C, Seminars in medical genetics, 2011-11, Vol.157C (4), p.321-332

2011

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Cloacal exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research

American journal of medical genetics. Part C, Seminars in medical genetics, 2011-11, Vol.157C (4), p.333-343

2011

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Smoking during pregnancy: changes and associated risk factors in Spain, 1980-2016

Journal of public health (Oxford, England), 2022-06, Vol.44 (2), p.438-446

2022

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Cyclopia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research

American journal of medical genetics. Part C, Seminars in medical genetics, 2011-11, Vol.157C (4), p.344-357

2011

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Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980–2010

European urology, 2019-10, Vol.76 (4), p.482-490

2019

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Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date

American journal of medical genetics. Part A, 2015-09, Vol.167A (9), p.2034-2041

2015

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Interstitial deletion 14q22.3-q23.2: Genotype-phenotype correlation

American journal of medical genetics. Part A, 2014-03, Vol.164A (3), p.639-647

2014

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Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome

American journal of medical genetics. Part A, 2014-02, Vol.164A (2), p.338-345

2014

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Gastroschisis and associated defects: An international study

American journal of medical genetics. Part A, 2007-04, Vol.143A (7), p.660-671

2007

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Structural Gender Equality in Europe and Its Evolution Over the First Decade of the Twentyfirst Century

Changes in Alcohol Intake During Pregnancy in Spain, 1980 to 2014

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

Effects of maternal modafinil treatment on fetal development and neonatal growth parameters - a multicenter case series of the European Network of Teratology Information Services (ENTIS)

De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

Using a health observance event to raise awareness: An assessment of World Birth Defects Day

Analysis of Mortality among Neonates and Children with Spina Bifida: An International Registry‐Based Study, 2001‐2012

Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder

Prevalence and mortality among children with anorectal malformation: A multi‐country analysis

Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980–2017

Tetralogy of Fallot in Spain: a nationwide registry-based mortality study across 36 years

Bladder exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature

A multi‐country study of prevalence and early childhood mortality among children with omphalocele

Cloacal exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research

Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs

Smoking during pregnancy: changes and associated risk factors in Spain, 1980-2016

Cyclopia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research

European Recommendations for Primary Prevention of Congenital Anomalies: A Joined Effort of EUROCAT and EUROPLAN Projects to Facilitate Inclusion of This Topic in the National Rare Disease Plans

Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980–2010

Prevalence and mortality in children with congenital diaphragmatic hernia: a multicountry study

Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date

Interstitial deletion 14q22.3-q23.2: Genotype-phenotype correlation

Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome

Gastroschisis and associated defects: An international study

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