Marta Bertoli

Marta Bertoli

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Marta Bertoli

Marta Bertoli

Publications by authors named "Marta Bertoli"

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The clinical presentation caused by truncating CHD8 variants.

Clin Genet 2019 Apr 18. Epub 2019 Apr 18.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.

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http://doi.wiley.com/10.1111/cge.13554
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http://dx.doi.org/10.1111/cge.13554DOI Listing
April 2019

Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene.

Clin Genet 2019 Feb 18;95(2):336-338. Epub 2018 Nov 18.

Regional Coordinator Centre for Rare Diseases, Department of Laboratory Medicine, Academic Hospital "Santa Maria della Misericordia" Udine, Udine, Italy.

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http://doi.wiley.com/10.1111/cge.13464
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http://dx.doi.org/10.1111/cge.13464DOI Listing
February 2019

Multidisciplinary Clinics.

J Pediatr Orthop 2017 Jul/Aug;37 Suppl 1:S29-S30

*Functional Area Occupational Therapy and Physiotherapy †Astrid Lindgren Childrens Hospital, Karolinska University Hospital Stockholm, Sweden ‡Department of Plastic Surgery, Royal Victoria Infirmary §The John Walton Research Centre for Neuromuscular Disorders, Institute of Human Genetics, Newcastle University ∥Northern Genetics Service, Institute of Human Genetics, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.

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http://dx.doi.org/10.1097/BPO.0000000000000999DOI Listing
October 2017

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.

Neuromuscul Disord 2017 Sep 4;27(9):861-872. Epub 2017 May 4.

Muscle Immunoanalysis Unit, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4AZ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.05.002DOI Listing
September 2017

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Blood 2016 06 15;127(23):2791-803. Epub 2016 Apr 15.

Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;

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http://dx.doi.org/10.1182/blood-2015-12-688267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5016734PMC
June 2016

Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?

Neuromuscul Disord 2016 Feb 18;26(2):111-25. Epub 2015 Dec 18.

The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1016/j.nmd.2015.11.012DOI Listing
February 2016

408 kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: a genetic counseling dilemma in paternal carrier status.

Congenit Anom (Kyoto) 2015 Feb;55(1):65-70

Department of Obstetrics and Gynecology, Prenatal Diagnostic Service, Guastalla Civil Hospital, AUSL Reggio Emilia, Guastalla, Italy.

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http://dx.doi.org/10.1111/cga.12078DOI Listing
February 2015

A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis.

Am J Med Genet A 2011 Oct 9;155A(10):2543-51. Epub 2011 Sep 9.

Research Center, S. Pietro Fatebenefratelli Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.34201DOI Listing
October 2011

Sporadic case of unusual facies, cerebral vascular anomalies and developmental delay.

Clin Dysmorphol 2009 Apr;18(2):110-1

Université Paris Descartes, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris Cedex, France.

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http://dx.doi.org/10.1097/MCD.0b013e32831db26fDOI Listing
April 2009

Infectivity for mice of Trypanosoma cruzi I and II strains isolated from different hosts.

Parasitol Res 2006 Jun 31;99(1):7-13. Epub 2006 Jan 31.

Departamento de Análises Clínicas, Parasitologia Básica, Universidade Estadual De Maringá, Maringá, Paraná, Brazil.

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http://dx.doi.org/10.1007/s00436-005-0122-7DOI Listing
June 2006