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Prenatal diagnosis of severe structural congenital malformations in Europe

Ultrasound in obstetrics & gynecology, 2005-01, Vol.25 (1), p.6-11

2005

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Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder

Human molecular genetics, 2009-05, Vol.18 (10), p.1795-1804

2009

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The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil

Mutation research, 2020-04, Vol.852, p.503164-503164, Article 503164

2020

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The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

Clinical genetics, 2016-06, Vol.89 (6), p.733-738

2016

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Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

Clinical genetics, 2014-12, Vol.86 (6), p.595-597

2014

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Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

European journal of medical genetics, 2012-06, Vol.55 (6), p.404-413

2012

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HP48 : Coexistence of unilateral and bilateral retinitis pigmentosa in the same family

Clinical neurophysiology, 2022-03, Vol.135, p.e12-e12

2022

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Trends and geographic inequalities in the prevalence of Down syndrome in Europe, 1980-1999

Revue d'épidémiologie et de santé publique, 2005-11, Vol.53, p.87-95

2005

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Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Nature genetics, 2003-04, Vol.33 (4), p.459-461

2003

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Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe

Prenatal diagnosis, 2004-11, Vol.24 (11), p.908-912

2004

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Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro-osteogenic paracrine response: TERCELOI clinical trial

Yearbook of Paediatric Endocrinology, 2022-09

2022

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Preventing neural tube defects in Europe: A missed opportunity

Reproductive toxicology (Elmsford, N.Y.), 2005-09, Vol.20 (3), p.393-402

2005

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The MECP2 variant c. 925C >T (p. Arg309Trp ) causes intellectual disability in both males and females without classic features of Rett syndrome

Clinical genetics, 2016-06, Vol.89 (6), p.733-738

2016

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Miller (Genée―Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

Human molecular genetics, 2012-09, Vol.21 (18), p.3969-3983

2012

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PP05.10 – 3086: Cockayne syndrome and DNA repair disorders: Novel expanding neurological phenotype

European journal of paediatric neurology, 2015-05, Vol.19, p.S48-S49

2015

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What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis

BMC medical genetics, 2018-03, Vol.19 (1), p.32-32, Article 32

2018

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Bacterial sinusitis associated with subacute, granulomatous thyroiditis

The Journal of infection, 1997-03, Vol.34 (2), p.158-159

1997

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Episodic spontaneous hypothermia: a periodic childhood syndrome

Pediatric neurology, 2003-04, Vol.28 (4), p.304-306

2003

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Puede la encefalomielitis aguda diseminada cursar de forma diferida?

Revista de neurologiá, 2001, Vol.32 (12), p.1132

2001

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La práctica clínica neuropediátrica en un hospital terciario del País Vasco

Revista de neurologiá, 1999-12, Vol.29 (12), p.1112

1999

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Multilocular hydrocephalus: ultrasound studies of origin and development

Pediatric neurology, 2001-02, Vol.24 (2), p.149-151

2001

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Can acute disseminated encephalomyelitis progress in a deferred way?

Revista de neurologiá, 2001-06, Vol.32 (12), p.1132-1135

2001

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Neuropediatric clinical practice in a tertiary hospital of Basque Country

Revista de neurologiá, 1999-12, Vol.29 (12), p.1112-1116

1999

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Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

Clinical genetics, 2014, Vol.86 (6), p.595-597

2014

Volltextzugriff (PDF)

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Prenatal diagnosis of severe structural congenital malformations in Europe

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder

The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

HP48 : Coexistence of unilateral and bilateral retinitis pigmentosa in the same family

Trends and geographic inequalities in the prevalence of Down syndrome in Europe, 1980-1999

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe

Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro-osteogenic paracrine response: TERCELOI clinical trial

Preventing neural tube defects in Europe: A missed opportunity

The MECP2 variant c. 925C >T (p. Arg309Trp ) causes intellectual disability in both males and females without classic features of Rett syndrome

Miller (Genée―Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

PP05.10 – 3086: Cockayne syndrome and DNA repair disorders: Novel expanding neurological phenotype

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis

Bacterial sinusitis associated with subacute, granulomatous thyroiditis

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Episodic spontaneous hypothermia: a periodic childhood syndrome

Puede la encefalomielitis aguda diseminada cursar de forma diferida?

La práctica clínica neuropediátrica en un hospital terciario del País Vasco

Multilocular hydrocephalus: ultrasound studies of origin and development

Can acute disseminated encephalomyelitis progress in a deferred way?

Neuropediatric clinical practice in a tertiary hospital of Basque Country

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

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