Antonio Novelli

Antonio Novelli

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Antonio Novelli

Antonio Novelli

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Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene.

Psychiatr Genet 2019 06;29(3):86-90

Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital.

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http://dx.doi.org/10.1097/YPG.0000000000000217DOI Listing
June 2019

Copy number variants in autism spectrum disorders.

Prog Neuropsychopharmacol Biol Psychiatry 2019 06 20;92:421-427. Epub 2019 Feb 20.

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

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http://dx.doi.org/10.1016/j.pnpbp.2019.02.012DOI Listing
June 2019

Novel clinical features associated with Clouston syndrome.

Int J Dermatol 2019 Jun 5. Epub 2019 Jun 5.

Unit of Dentistry, Bambino Gesù Children Hospital and Research Institute, Rome, Italy.

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http://dx.doi.org/10.1111/ijd.14507DOI Listing
June 2019

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.

Neurogenetics 2019 Jun 17. Epub 2019 Jun 17.

Research Lab of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, IRCCS, 20145, Milan, Italy.

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http://dx.doi.org/10.1007/s10048-019-00581-6DOI Listing
June 2019

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation.

Mol Genet Genomic Med 2019 05 27;7(5):e634. Epub 2019 Mar 27.

Division of Metabolism, Department of Pediatrics Specialties, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/mgg3.634DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503021PMC
May 2019

Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy.

Acta Derm Venereol 2019 May 10. Epub 2019 May 10.

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Via dei Monti di Creta, 104, IT-00167 Rome, Italy.

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http://dx.doi.org/10.2340/00015555-3216DOI Listing
May 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 May 20. 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
May 2019

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

A rare mutation of retinoic acid receptor-β associated with lethal neonatal Matthew-Wood syndrome.

Clin Dysmorphol 2019 Apr;28(2):74-77

Division of Neonatology, Salesi Children's Hospital, Ancona.

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http://dx.doi.org/10.1097/MCD.0000000000000251DOI Listing
April 2019

Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary.

Int J Mol Sci 2019 Apr 16;20(8). Epub 2019 Apr 16.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Lucio Severi 1, 06132 Perugia, Italy.

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http://dx.doi.org/10.3390/ijms20081875DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515070PMC
April 2019

Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease.

Ital J Pediatr 2019 Apr 18;45(1):49. Epub 2019 Apr 18.

Respiratory Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Piazza di Sant'Onofrio 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1186/s13052-019-0636-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6471850PMC
April 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

Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.

Am J Med Genet A 2019 Feb 18;179(2):317-321. Epub 2018 Dec 18.

Division of Neuromuscular and Neurodegenerative Disorders, IRCCS-Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61006DOI Listing
February 2019

LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.

Am J Med Genet A 2019 Jan 18;179(1):104-112. Epub 2018 Dec 18.

Pediatric Cardiology and Arrhythmology Unit, Department of Pediatric Cardiology and Cardiac Surgery, IRCCS-Bambino Gesù Children Hospital and Research Institute, Rome, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.10
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http://dx.doi.org/10.1002/ajmg.a.10DOI Listing
January 2019

Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation.

Am J Med Genet A 2019 Jan 20;179(1):113-117. Epub 2018 Dec 20.

Department of Pediatric Hematology/Oncology and Cellular and Gene Therapy, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.60674DOI Listing
January 2019

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

Am J Med Genet A 2018 Dec 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

Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism.

J Pediatr 2018 11 5;202:272-278.e4. Epub 2018 Sep 5.

Division of Metabolic Diseases, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2018.06.050DOI Listing
November 2018

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.

BMC Med Genet 2018 09 15;19(1):170. Epub 2018 Sep 15.

Mechanical Assistance Device and Artificial Heart Unit, Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0661-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139163PMC
September 2018

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement.

Eur J Paediatr Neurol 2018 May 3;22(3):552-557. Epub 2018 Feb 3.

Medical Genetics Unit, Bambino Gesù Paediatric Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2018.01.024DOI Listing
May 2018

X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients.

Exp Dermatol 2018 Apr 19. Epub 2018 Apr 19.

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

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http://dx.doi.org/10.1111/exd.13667DOI Listing
April 2018

Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders.

J Autism Dev Disord 2018 02;48(2):442-449

Department of Neurosciences, Child Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1007/s10803-017-3329-4DOI Listing
February 2018

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

Aged induced pluripotent stem cell (iPSCs) as a new cellular model for studying premature aging.

Aging (Albany NY) 2017 05;9(5):1453-1469

Department of Neuroscience, Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, 00146, Italy.

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http://dx.doi.org/10.18632/aging.101248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5472744PMC
May 2017

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

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.

Brain Dev 2017 Feb 14;39(2):182-183. Epub 2016 Sep 14.

Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2016.08.010DOI Listing
February 2017

2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation.

Cytogenet Genome Res 2016 3;150(1):23-28. Epub 2016 Dec 3.

Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1159/000452090DOI Listing
January 2017

Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome.

Am J Med Genet A 2016 10 11;170(10):2531-9. Epub 2016 Aug 11.

Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Calambrone, Pisa, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.37844
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http://dx.doi.org/10.1002/ajmg.a.37844DOI Listing
October 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

15q11.2 microdeletion and hypoplastic left heart syndrome.

Eur J Med Genet 2015 Nov 23;58(11):608-10. Epub 2015 Oct 23.

Centro di Consulenza Genetica e Teratologia della Riproduzione, Dipartimento Materno Infantile, ARNAS Garibaldi Nesima, Catania, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.09.012DOI Listing
November 2015

Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions.

Eur J Med Genet 2015 Nov 23;58(11):629-33. Epub 2015 Oct 23.

Hunter Genetics, Newcastle, New South Wales, Australia; The University of Newcastle, School of Medicine and Public Health, Newcastle, New South Wales, Australia.

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http://dx.doi.org/10.1016/j.ejmg.2015.10.006DOI Listing
November 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

An additional clinical sign of 17q21.31 microdeletion syndrome: preaxial polydactyly of hands with broad thumbs.

Am J Med Genet A 2015 Jul 9;167(7):1671-3. Epub 2015 Apr 9.

Centro di Consulenza Genetica e Teratologia della Riproduzione, Dipartimento Materno Infantile, ARNAS Garibaldi Nesima, Catania, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37054DOI Listing
July 2015

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

Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1.

Ann Hum Genet 2015 May 16;79(3):209-17. Epub 2015 Mar 16.

Child Neurology Division, Department of Pediatrics, Sapienza University, Rome, Italy.

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http://dx.doi.org/10.1111/ahg.12106DOI Listing
May 2015

Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.

Am J Med Genet A 2015 Apr 23;167A(4):842-51. Epub 2015 Feb 23.

Department of Molecular Medicine, Division of Medical Genetics, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36983DOI Listing
April 2015

Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.

Am J Med Genet A 2014 Sep 4;164A(9):2294-9. Epub 2014 Jun 4.

Computational Medicine Center, Thomas Jefferson University, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404493PMC
September 2014

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies.

Am J Med Genet A 2014 Aug 6;164A(8):2097-103. Epub 2014 May 6.

Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California.

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http://dx.doi.org/10.1002/ajmg.a.36598DOI Listing
August 2014

Hypopigmented skin patches in 17q21.31 microdeletion syndrome: expanding the spectrum of cutaneous findings.

Clin Dysmorphol 2014 Jan;23(1):32-4

aDepartment of Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS bDepartment of Neuropsychiatry, Sapienza University, Rome cMendel Laboratory, Casa Sollievo della Sofferenza Hospital, IRCCS, Rome and San Giovanni Rotondo, 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.0000000000000019DOI Listing
January 2014

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.

Eur J Paediatr Neurol 2013 Nov 24;17(6):589-99. Epub 2013 May 24.

Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, via dei Giacinti, 2, 56128 Calambrone, Pisa, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798130006
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http://dx.doi.org/10.1016/j.ejpn.2013.04.010DOI Listing
November 2013

Homozygous deletion in TUSC3 causing syndromic intellectual disability: a new patient.

Am J Med Genet A 2013 Aug 4;161A(8):2084-7. Epub 2013 Jul 4.

Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1002/ajmg.a.36028DOI Listing
August 2013

6p25 interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder.

Eur J Paediatr Neurol 2013 May 12;17(3):225-31. Epub 2012 Oct 12.

Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Via dei Giacinti 2, Calambrone, Pisa, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2012.09.008DOI Listing
May 2013

The future of prenatal diagnosis: karyotype, microarray or both? Technical and ethical considerations.

Expert Rev Proteomics 2013 Apr;10(2):131-4

Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Hospital, Viale dei Cappuccini, s.n.c.71013 San Giovanni Rotondo, Foggia, Italy.

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http://dx.doi.org/10.1586/epr.13.9DOI Listing
April 2013

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

Eur J Med Genet 2013 Mar 25;56(3):144-9. Epub 2012 Dec 25.

Medical Genetics, Cytogenetics and Pediatric Cardiology, Bambino Gesù Pediatric Hospital, IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2012.12.004DOI Listing
March 2013

Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p.

Gene 2013 Feb 20;515(2):439-43. Epub 2012 Dec 20.

Division of Endocrinology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.gene.2012.12.007DOI Listing
February 2013

Array CGH in routine prenatal diagnosis practice.

Prenat Diagn 2012 Jul;32(7):708-9; author reply 711-2

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http://doi.wiley.com/10.1002/pd.3845
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http://dx.doi.org/10.1002/pd.3845DOI Listing
July 2012

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

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1.

Am J Med Genet A 2011 Sep 3;155A(9):2196-202. Epub 2011 Aug 3.

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

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http://dx.doi.org/10.1002/ajmg.a.34131DOI Listing
September 2011

Azoospermia in a man with a constitutional ring 22 chromosome.

Eur J Med Genet 2010 Nov-Dec;53(6):389-91. Epub 2010 Aug 10.

Department of Histology, Microbiology and Medical Biotechnologies, Section of Clinical Pathology, Centre for Male Gamete Cryopreservation, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2010.07.014DOI Listing
June 2011

TBX2 gene duplication associated with complex heart defect and skeletal malformations.

Am J Med Genet A 2010 Aug;152A(8):2061-6

Casa Sollievo della Sofferenza Hospital, IRCSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33506DOI Listing
August 2010