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Language in young females with fragile X syndrome: Influence on the neurocognitive profile and adaptive behavior

American journal of medical genetics. Part A, 2021-05, Vol.185 (5), p.1448-1460

2021

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Beyond the disease itself: A cross‐cutting educational initiative for patients and families with rare diseases

Journal of genetic counseling, 2021-06, Vol.30 (3), p.693-700

2021

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New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

PloS one, 2021-10, Vol.16 (10), p.e0258766-e0258766

2021

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Lenguaje de niños y jóvenes con síndrome de deleción 22q11

Revista de neurologiá, 2020-08, Vol.71 (3), p.99

2020

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Voz y habla de los niños con síndrome de deleción de 22q11

Revista de neurologiá, 2019-02, Vol.68 (3), p.99

2019

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Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study

Journal of Pediatric Endocrinology and Metabolism, 2019-08, Vol.32 (8), p.879-884

2019

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Estilos educativos y psicopatología en niños y adolescentes con discapacidad intelectual de Chile y España

Cuadernos de psicología (Bellaterra, Barcelona), 2017-04, Vol.19 (1)

2017

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Behavioral Profiles of Children with Williams Syndrome from Spain and the United States: Cross-Cultural Similarities and Differences

American journal on intellectual and developmental disabilities, 2017-03, Vol.122 (2), p.156-172

2017

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Social relationships in children from intercountry adoption

Children and youth services review, 2012-05, Vol.34 (5), p.955-961

2012

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ADHD-like symptoms and attachment in internationally adopted children

Attachment & human development, 2012-07, Vol.14 (4), p.405-423

2012

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Attachment and adaptive skills in children of international adoption

Child & family social work, 2014-02, Vol.19 (1), p.89-98

2014

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Comunicación en personas con el síndrome de deleción de 22q11: voz y habla

Revista de logopedia, foniatría y audiología, 2022-10, Vol.42 (4), p.238-249

2022

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Variables asociadas a las características de comunicación y lenguaje de las personas con síndrome de Angelman en una muestra de la península Ibérica

Revista de logopedia, foniatría y audiología, 2024-07, Vol.44 (3), p.100497, Article 100497

2024

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Fragile X syndrome in young females: Influence of executive function on the neurocognitive profile and adaptive behavior

Research in developmental disabilities, 2021-05, Vol.112, p.103912-103912, Article 103912

2021

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New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

PloS one, 2021-01, Vol.16 (10), p.e0258766

2021

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Behavior Problems and Social Competence in Fragile X Syndrome: A Systematic Review

Genes, 2022-01, Vol.13 (2), p.280

2022

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Comparing ADHD symptom levels in children adopted from Eastern Europe and from other regions: Discussing possible factors involved

Children and youth services review, 2012-09, Vol.34 (9), p.1903-1908

2012

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Expressed emotion and impulsiveness in mothers of children with Fragile X Syndrome and Down Syndrome: The relation to behavioral problems in their offspring

Research in developmental disabilities, 2018-12, Vol.83, p.179-189

2018

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Pilot study of socio-emotional factors and adaptive behavior in young females with fragile X syndrome

Child neuropsychology, 2021-10, Vol.27 (7), p.949-959

2021

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Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman‐like syndrome

Molecular genetics & genomic medicine, 2019-01, Vol.7 (1), p.e00511-n/a

2019

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The language of children and young people with 22q11 deletion syndrome

Revista de neurologiá, 2020-08, Vol.71 (3), p.99-109

2020

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Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE 1, in a patient with Angelman‐like syndrome

Molecular genetics & genomic medicine, 2019-01, Vol.7 (1)

2019

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Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome

American journal of medical genetics. Part A, 2006-11, Vol.140A (22), p.2426-2432

2006

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Voice and speech of children with 22q11 deletion syndrome

Revista de neurologiá, 2019-02, Vol.68 (3), p.99-106

2019

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Bullying Victimization in Young Females with Fragile-X-Syndrome

Genes, 2020-09, Vol.11 (9), p.1069

2020

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Language in young females with fragile X syndrome: Influence on the neurocognitive profile and adaptive behavior

Beyond the disease itself: A cross‐cutting educational initiative for patients and families with rare diseases

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

Lenguaje de niños y jóvenes con síndrome de deleción 22q11

Voz y habla de los niños con síndrome de deleción de 22q11

Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study

Estilos educativos y psicopatología en niños y adolescentes con discapacidad intelectual de Chile y España

Behavioral Profiles of Children with Williams Syndrome from Spain and the United States: Cross-Cultural Similarities and Differences

Social relationships in children from intercountry adoption

ADHD-like symptoms and attachment in internationally adopted children

Attachment and adaptive skills in children of international adoption

Comunicación en personas con el síndrome de deleción de 22q11: voz y habla

Variables asociadas a las características de comunicación y lenguaje de las personas con síndrome de Angelman en una muestra de la península Ibérica

Fragile X syndrome in young females: Influence of executive function on the neurocognitive profile and adaptive behavior

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

Behavior Problems and Social Competence in Fragile X Syndrome: A Systematic Review

Comparing ADHD symptom levels in children adopted from Eastern Europe and from other regions: Discussing possible factors involved

Expressed emotion and impulsiveness in mothers of children with Fragile X Syndrome and Down Syndrome: The relation to behavioral problems in their offspring

Pilot study of socio-emotional factors and adaptive behavior in young females with fragile X syndrome

Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman‐like syndrome

The language of children and young people with 22q11 deletion syndrome

Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE 1, in a patient with Angelman‐like syndrome

Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome

Voice and speech of children with 22q11 deletion syndrome

Bullying Victimization in Young Females with Fragile-X-Syndrome

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