Clara Serra-Juhé

Clara Serra-Juhé

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Clara Serra-Juhé

Clara Serra-Juhé

Publications by authors named "Clara Serra-Juhé"

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19Publications

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Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors.

Eur J Hum Genet 2019 May 3. Epub 2019 May 3.

Department of Clinical and Molecular Genetics Hospital Valle Hebron, Medicine Genetics Group VHIR, Barcelona, Spain.

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http://dx.doi.org/10.1038/s41431-019-0415-4DOI Listing
May 2019

Heterozygous rare genetic variants in non-syndromic early-onset obesity.

Int J Obes (Lond) 2019 Mar 29. Epub 2019 Mar 29.

Hospital Infantil Universitario Niño Jesús, Department of Endocrinology, Instituto de Investigación La Princesa, Universidad Autónoma de Madrid, Department of Pediatrics, Avenida Menéndez Pelayo, 65, 28009, Madrid, Spain.

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http://dx.doi.org/10.1038/s41366-019-0357-5DOI Listing
March 2019

Provision of Genetic Services for Autism and its Impact on Spanish Families.

J Autism Dev Disord 2017 Oct;47(10):2947-2956

Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, C/Dr. Aiguader, 88, 08003, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10803-017-3203-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602032PMC
October 2017

The perceived impact of the European registration system for genetic counsellors and nurses.

Eur J Hum Genet 2017 09 17;25(9):1075-1077. Epub 2017 May 17.

Genetic Nurse and Counsellor Professional Branch Board, European Board of Medical Genetics, Vienna, Austria.

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http://dx.doi.org/10.1038/ejhg.2017.84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558176PMC
September 2017

Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.

EMBO Mol Med 2016 04;8(4):363-74

Department of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús Instituto de Investigación La Princesa Universidad Autónoma de Madrid, Madrid, Spain Program of Pediatric Obesity, CIBEROBN Instituto de Salud Carlos III, Madrid, Spain

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http://dx.doi.org/10.15252/emmm.201506106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818753PMC
April 2016

Development of a registration system for genetic counsellors and nurses in health-care services in Europe.

Eur J Hum Genet 2016 Mar 4;24(3):312-4. Epub 2015 Nov 4.

Genetic Nurse and Counsellor Professional Branch Board, European Board of Medical Genetics, Vienna, Austria.

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http://dx.doi.org/10.1038/ejhg.2015.234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755385PMC
March 2016

DNA methylation abnormalities in congenital heart disease.

Epigenetics 2015 ;10(2):167-77

a Department of Experimental and Health Sciences ; Universitat Pompeu Fabra ; Barcelona , Spain.

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http://dx.doi.org/10.1080/15592294.2014.998536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4622722PMC
October 2015

Underdiagnosed Beckwith-Wiedemann syndrome among early onset obese children.

Arch Dis Child 2014 Oct 1;99(10):965-7. Epub 2014 Aug 1.

Department of Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Madrid, Spain Department of Pediatrics, Universidad Autónoma de Madrid, Madrid, Spain CIBER Fisiopatología de la Obesidad y Nutrición, Instituto de Salud Carlos III, Madrid, Spain.

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http://dx.doi.org/10.1136/archdischild-2014-307097DOI Listing
October 2014