Publications by authors named "Bruno Dallapiccola"

100Publications

Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision.

Front Pediatr 2020 24;8:374. Epub 2020 Jul 24.

The European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart, Pediatric Cardiology and Arrhythmia/Syncope Units, Bambino Gesù Children Hospital and Research Institute, Rome, Italy.

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http://dx.doi.org/10.3389/fped.2020.00374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393225PMC
July 2020

Biallelic mutations in the gene cause a novel primary ciliopathy.

J Med Genet 2020 Aug 3. Epub 2020 Aug 3.

Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy

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http://dx.doi.org/10.1136/jmedgenet-2020-106833DOI Listing
August 2020

Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect.

Am J Med Genet A 2020 06 22;182(6):1342-1350. Epub 2020 Apr 22.

Pediatric Cardiology and Cardiac Arrhythmias Unit, Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61586DOI Listing
June 2020

KBG syndrome: Common and uncommon clinical features based on 31 new patients.

Am J Med Genet A 2020 05 3;182(5):1073-1083. Epub 2020 Mar 3.

Laboratory of Medical Genetics, Medical Genetics, Rare Diseases, Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61524DOI Listing
May 2020

Potential of multiomics technology in precision medicine.

Curr Opin Gastroenterol 2019 11;35(6):491-498

Scientific Directorate, Children's Hospital and Research Institute 'Bambino Gesù', IRCCS, Rome, Italy.

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http://Insights.ovid.com/crossref?an=00001574-201911000-0000
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http://dx.doi.org/10.1097/MOG.0000000000000589DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6818999PMC
November 2019

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 09 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations.

Am J Med Genet A 2019 08 20;179(8):1570-1574. Epub 2019 May 20.

Medical Genetics Unit, Medical Genetics Laboratory, Neonatal Surgery Unit, Neonatal Intensive Care Unit, Scientific Rectorate, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61195
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http://dx.doi.org/10.1002/ajmg.a.61195DOI Listing
August 2019

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome.

Int J Mol Sci 2019 Mar 22;20(6). Epub 2019 Mar 22.

Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS 66160, USA.

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https://www.mdpi.com/1422-0067/20/6/1459
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http://dx.doi.org/10.3390/ijms20061459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6470921PMC
March 2019

Expanding the clinical spectrum associated with PACS2 mutations.

Clin Genet 2019 04 28;95(4):525-531. Epub 2019 Feb 28.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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http://dx.doi.org/10.1111/cge.13516DOI Listing
April 2019

An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome.

Am J Med Genet A 2018 12 5;176(12):2781-2786. Epub 2018 Oct 5.

Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.40488DOI Listing
December 2018

Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1.

Eur J Med Genet 2019 Apr 23;62(4):243-247. Epub 2018 Jul 23.

Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183020
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http://dx.doi.org/10.1016/j.ejmg.2018.07.022DOI Listing
April 2019

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Am J Hum Genet 2018 01 21;102(1):175-187. Epub 2017 Dec 21.

Manchester Centre for Genomic Medicine, Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.11.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5778085PMC
January 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the Locus on 5q14.3.

Circ Cardiovasc Genet 2017 Oct;10(5)

From the Department of Genetics (T.G., J.H.C., H.N., C.L.C., T.W., B.E.M.) and Department of Epidemiology and Population Health (T.W.), Albert Einstein College of Medicine, Bronx, NY; Center for Human Genetics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile (G.M.R.); Division of Human Genetics (D.M.M.M., E.E.M., E.Z., B.S.E.), Division of Cardiology (E.G.), and Department of Pediatrics (E.G.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Genetics, Wroclaw Medical University, Poland (A.B.); Clinical Genetics Research Program, Center for Addiction and Mental Health and Department of Psychiatry, University of Toronto (A.S.B., E.W.C.C.); Dalglish Family 22q Clinic, Department of Psychiatry and Toronto General Research Institute, University Health Network, Canada (A.S.B.); Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada (A.S.B.); Center for Human Genetics, University of Leuven (KU Leuven), Belgium (A.S., J.V., K.D.); The Child Psychiatry Division, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel (D.G.); Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Israel (D.G., M.C., E.M.); Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel (M.C., E.M.); Developmental Imaging and Psychopathology Lab, University of Geneva School of Medicine, Switzerland (M.S., S.E.); Department of Genetic Medicine, UNIGE and iGE3 Institute of Genetics and Genomics of Geneva, University of Geneva Medical Center, Switzerland (S.E.A.); Marcus Autism Center, Children's Healthcare of Atlanta, GA (K.C.); Division of Pediatric Cardiovascular Surgery, Children's Hospital of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Surgery, Medical College of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy (M.C.D., B.D.); Department of Pediatrics, La Sapienza University of Rome, Italy (B.M.); Department of Medical Genetics, Aix Marseille University, APHM, GMGF, Timone Hospital, France (N.P., T.B.); Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles (L.K.-W., C.E.B.); Department of Genetics, Polish Mother's Memorial Hospital, Research Institute, Łódź, Poland (M.P., W.H.); Department of Cardiology and Division of Genetics, Boston Children's Hospital, MA (A.E.R.); M.I.N.D. Institute and Department of Psychiatry and Behavioral Sciences (F.T.) and M.I.N.D. Institute and Department of Biochemistry and Molecular Medicine (T.J.S.), University of California, Davis; Department of Psychiatry and Psychology, University of Maastricht, The Netherlands (E.D.A.V.D., T.A.v.A.); Department of Psychiatry and Behavioral Sciences, and Program in Neuroscience, SUNY Upstate Medical University, Syracuse, NY (T.A.v.A., W.R.K.); Department of Human Genetics, Emory University School of Medicine, Atlanta, GA (H.R.J., D.J.C.); Department of Biostatistics and Bioinformatics, Emory University Rollins School of Public Health, Atlanta, GA (H.R.J.); and Human Genetics Center and Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX (A.J.A., L.E.M.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001690DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647121PMC
October 2017

Congenital heart defects in molecularly proven Kabuki syndrome patients.

Am J Med Genet A 2017 Nov 8;173(11):2912-2922. Epub 2017 Sep 8.

Medical Genetics Unit, Medical Genetics Laboratory, Pediatric Cardiology, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38417DOI Listing
November 2017

Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.

Am J Med Genet A 2017 Jul 10;173(7):1943-1946. Epub 2017 May 10.

Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38269DOI Listing
July 2017

Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.

Am J Med Genet A 2017 Jul 7;173(7):1965-1969. Epub 2017 May 7.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38255DOI Listing
July 2017

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.

Clin Genet 2018 02 25;93(2):401-407. Epub 2017 Apr 25.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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http://dx.doi.org/10.1111/cge.13029DOI Listing
February 2018

Reassessment of the 12q15 deletion syndrome critical region.

Eur J Med Genet 2017 Apr 31;60(4):220-223. Epub 2017 Jan 31.

Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2017.01.009DOI Listing
April 2017

Monitoring Perinatal Gut Microbiota in Mouse Models by Mass Spectrometry Approaches: Parental Genetic Background and Breastfeeding Effects.

Front Microbiol 2016 26;7:1523. Epub 2016 Sep 26.

Human Microbiome Unit, Area of Genetic and Rare Diseases, Bambino Gesù Children's Hospital, IRCCSRome, Italy; Unit of Parasitology, Department of Laboratory, Bambino Gesù Children's Hospital, IRCCSRome, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5036385PMC
http://dx.doi.org/10.3389/fmicb.2016.01523DOI Listing
September 2016

Foodomics as part of the host-microbiota-exposome interplay.

J Proteomics 2016 09 26;147:3-20. Epub 2016 Apr 26.

Scientific Directorate, Bambino Gesù Children's Hospital and Research Institute, Piazza Sant'Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1016/j.jprot.2016.04.033DOI Listing
September 2016

Survey of medical genetic services in Italy: year 2011.

BMC Health Serv Res 2016 Mar 17;16:96. Epub 2016 Mar 17.

IRCCS Ospedale Pediatrico Bambino Gesu, Roma, Italy.

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http://dx.doi.org/10.1186/s12913-016-1340-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4797350PMC
March 2016

Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome.

Am J Med Genet A 2016 Mar 21;170(3):661-4. Epub 2015 Dec 21.

Medical Genetic Unit and Laboratory of Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37503DOI Listing
March 2016

Gut Microbiota Dysbiosis as Risk and Premorbid Factors of IBD and IBS Along the Childhood-Adulthood Transition.

Inflamm Bowel Dis 2016 Feb;22(2):487-504

*Unit of Parasitology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; †Unit of Metagenomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; ‡Gastroenterology Unit, University Campus Bio-Medico of Rome, Rome, Italy; §Department of Pediatrics, Center for Pediatric Inflammatory Bowel Disease, University of Rome "La Sapienza," Rome, Italy; and ‖Scientific Directorate, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1097/MIB.0000000000000602DOI Listing
February 2016

Understanding probiotics' role in allergic children: the clue of gut microbiota profiling.

Curr Opin Allergy Clin Immunol 2015 Oct;15(5):495-503

aUnit of Metagenomics, Genetic and Rare Diseases Area bDivision of Allergy, Department of Pediatrics cDermatology Unit, Department of Pediatrics dScientific Directorate eDepartment of Pediatrics fUnit of Parasitology, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS gDepartment of Pediatrics, University of Rome Tor Vergata, Rome, Italy.

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http://dx.doi.org/10.1097/ACI.0000000000000203DOI Listing
October 2015

Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome.

Eur J Med Genet 2015 Aug 2;58(8):406-8. Epub 2015 Jul 2.

Scientific Directorate, Bambino Gesù Pediatric Hospital, IRCCS, Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212150010
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http://dx.doi.org/10.1016/j.ejmg.2015.05.005DOI Listing
August 2015

Reference ranges of HOMA-IR in normal-weight and obese young Caucasians.

Acta Diabetol 2016 Apr 13;53(2):251-60. Epub 2015 Jun 13.

Research Unit for Multifactorial Diseases, Scientific Directorate, Bambino Gesù Children Hospital, Rome, Italy.

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http://dx.doi.org/10.1007/s00592-015-0782-4DOI Listing
April 2016

The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review.

Case Rep Obstet Gynecol 2015 4;2015:830108. Epub 2015 May 4.

Department of Neurosciences, Reproductive Sciences and Odontostomatoloy, University of Naples Federico II, 80100 Naples, Italy.

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http://dx.doi.org/10.1155/2015/830108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4434197PMC
June 2015

Dysmorphologic assessment in 115 Mayer-Rokitansky-Küster-Hauser patients.

Clin Dysmorphol 2015 Jul;24(3):95-101

aMedical Genetics Unit bObstetric and Gynecology Unit cDepartment of Clinical/Surgical Pathophysiology and Organ Transplant, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico dMedical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milano eBambino Gesù Children Hospital, IRCCS, Rome, Italy.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000087DOI Listing
July 2015

Cardiovascular malformations in Adams-Oliver syndrome.

Am J Med Genet A 2015 May;167A(5):1175-7

Medical Genetics and Pediatric Cardiology, Bambino Gesu, Pediatric Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36764DOI Listing
May 2015

Hypoplastic left heart syndrome and 21q22.3 deletion.

Am J Med Genet A 2015 Mar 7;167A(3):579-86. Epub 2015 Feb 7.

Cytogenetics and Molecular Genetics, Medical Genetics and Pediatric Cardiology, Bambino Gesù Paediatric Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36914DOI Listing
March 2015

Behavioral phenotype in Costello syndrome with atypical mutation: a case report.

Am J Med Genet B Neuropsychiatr Genet 2015 Jan 4;168B(1):66-71. Epub 2014 Nov 4.

Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.b.32279DOI Listing
January 2015

Authors' response to J Thomas: "If not parthenogenesis why not 'in vivo embryogenesis' with Mary as a birth mother".

J Matern Fetal Neonatal Med 2015 Nov 27;28(16):1917. Epub 2014 Oct 27.

b Bambino Gesù Children Hospital, IRCCS , Rome , Italy.

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http://dx.doi.org/10.3109/14767058.2014.972747DOI Listing
November 2015

Mediterranean diet and health: food effects on gut microbiota and disease control.

Int J Mol Sci 2014 Jul 1;15(7):11678-99. Epub 2014 Jul 1.

Unit of Parasitology, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, Rome 400165, Italy.

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http://dx.doi.org/10.3390/ijms150711678DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4139807PMC
July 2014

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.

Hum Genet 2014 Sep 7;133(9):1161-7. Epub 2014 Jun 7.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1007/s00439-014-1456-yDOI Listing
September 2014

The human gut microbiota: a dynamic interplay with the host from birth to senescence settled during childhood.

Pediatr Res 2014 Jul 14;76(1):2-10. Epub 2014 Apr 14.

Scientific Directorate, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://www.nature.com/articles/pr201449
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http://dx.doi.org/10.1038/pr.2014.49DOI Listing
July 2014