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Items: 1 to 50 of 361

1.

Clinical and Prognostic Role of 18F-FDG PET/CT in Pediatric Ewing Sarcoma.

Albano D, Dondi F, Schumacher RF, D'Ippolito C, Porta F, Giubbini R, Bertagna F.

J Pediatr Hematol Oncol. 2019 May 22. doi: 10.1097/MPH.0000000000001518. [Epub ahead of print]

PMID:
31135716
2.

OMERACT agreement and reliability study of ultrasonographic elementary lesions in osteoarthritis of the foot.

Zabotti A, Filippou G, Canzoni M, Adinolfi A, Picerno V, Carrara G, Balint P, Bruyn G, D'Agostino MA, Damjanov N, Delle Sedie A, Filippucci E, Gonzalez Fernandez ML, Hammer HB, Karim Z, Mandl P, Moller I, Morales Lozano MR, Naredo E, Porta F, Sakellariou G, Terslev L, Scirè CA, Iagnocco A; OMERACT Ultrasound Task Force members .

RMD Open. 2019 Mar 8;5(1):e000795. doi: 10.1136/rmdopen-2018-000795. eCollection 2019.

3.

Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism.

Porta F, Romagnoli R, Busso M, Tandoi F, Spada M.

J Pediatr Gastroenterol Nutr. 2019 Apr 1. doi: 10.1097/MPG.0000000000002354. [Epub ahead of print]

PMID:
30964822
4.

Inga edulis fruits: a new source of bioactive anthocyanins.

Lima NM, Falcoski TOR, Silveira RS, Ramos RR, Andrade TJASA, Costa PI, La Porta FA, Almeida MVA.

Nat Prod Res. 2019 Mar 31:1-5. doi: 10.1080/14786419.2019.1591395. [Epub ahead of print]

PMID:
30931612
5.

F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.

Calzoni E, Platt CD, Keles S, Kuehn HS, Beaussant-Cohen S, Zhang Y, Pazmandi J, Lanzi G, Pala F, Tahiat A, Artac H, Heredia RJ, Dmytrus J, Reisli I, Uygun V, Uygun D, Bingol A, Basaran E, Djenouhat K, Benhalla N, Bendahmane C, Emiroglu M, Kirchhausen T, Pasham M, Jones J, Wallace JG, Zheng L, Boisson B, Porta F, Rosenzweig SD, Su H, Giliani S, Lenardo M, Geha RS, Boztug K, Chou J, Notarangelo LD.

J Allergy Clin Immunol. 2019 Jun;143(6):2317-2321.e12. doi: 10.1016/j.jaci.2019.02.014. Epub 2019 Feb 26. No abstract available.

PMID:
30822429
6.

A high definition picture of key genes and pathways mutated in pediatric follicular lymphoma.

Lovisa F, Binatti A, Coppe A, Primerano S, Carraro E, Pillon M, Pizzi M, Guzzardo V, Buffardi S, Porta F, Farruggia P, De Santis R, Bulian P, Basso G, Lazzari E, d'Amore ESG, Bortoluzzi S, Mussolin L.

Haematologica. 2019 Feb 28. pii: haematol.2018.211631. doi: 10.3324/haematol.2018.211631. [Epub ahead of print]

7.

Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.

Porta F, Chiesa N, Martinelli D, Spada M.

J Pediatr Endocrinol Metab. 2019 Feb 25;32(2):101-108. doi: 10.1515/jpem-2018-0311. Review.

PMID:
30730842
8.

Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies.

Dotta L, Notarangelo LD, Moratto D, Kumar R, Porta F, Soresina A, Lougaris V, Plebani A, Smith CIE, Norlin AC, Gòmez Raccio AC, Bubanska E, Bertolini P, Amendola G, Visentini M, Fiorilli M, Venuti A, Badolato R.

J Allergy Clin Immunol Pract. 2019 May - Jun;7(5):1568-1577. doi: 10.1016/j.jaip.2019.01.045. Epub 2019 Feb 2.

PMID:
30716504
9.

Combined liver and hematopoietic stem cell transplantation in patients with X-linked hyper-IgM syndrome.

Bucciol G, Nicholas SK, Calvo PL, Cant A, Edgar JDM, Español T, Ferrua F, Galicchio M, Gennery AR, Hadzic N, Hanson IC, Kusminsky G, Lange A, Lanternier F, Mahlaoui N, Moshous D, Nademi Z, Neven B, Oleastro M, Porta F, Quarello P, Silva M, Slatter MA, Soncini E, Stefanowicz M, Tandoi F, Teisseyre M, Torgerson TR, Veys P, Weinacht KG, Wolska-Kuśnierz B, Pirenne J, de la Morena MT, Meyts I.

J Allergy Clin Immunol. 2019 May;143(5):1952-1956.e6. doi: 10.1016/j.jaci.2018.12.1013. Epub 2019 Jan 22. No abstract available.

PMID:
30682461
10.

Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study.

Ferrua F, Galimberti S, Courteille V, Slatter MA, Booth C, Moshous D, Neven B, Blanche S, Cavazzana M, Laberko A, Shcherbina A, Balashov D, Soncini E, Porta F, Al-Mousa H, Al-Saud B, Al-Dhekri H, Arnaout R, Formankova R, Bertrand Y, Lange A, Smart J, Wolska-Kusnierz B, Aquino VM, Dvorak CC, Fasth A, Fouyssac F, Heilmann C, Hoenig M, Schuetz C, Kelečić J, Bredius RGM, Lankester AC, Lindemans CA, Suarez F, Sullivan KE, Albert MH, Kałwak K, Barlogis V, Bhatia M, Bordon V, Czogala W, Alonso L, Dogu F, Gozdzik J, Ikinciogullari A, Kriván G, Ljungman P, Meyts I, Mustillo P, Smith AR, Speckmann C, Sundin M, Keogh SJ, Shaw PJ, Boelens JJ, Schulz AS, Sedlacek P, Veys P, Mahlaoui N, Janda A, Davies EG, Fischer A, Cowan MJ, Gennery AR; SCETIDE, PIDTC, EBMT & ESID IEWP.

J Allergy Clin Immunol. 2019 Jun;143(6):2238-2253. doi: 10.1016/j.jaci.2018.12.1010. Epub 2019 Jan 17.

11.

Exploring the Biological Activity of a Library of 1,2,5-Oxadiazole Derivatives Endowed With Antiproliferative Activity.

Gelain A, Mori M, Meneghetti F, Porta F, Basile L, Marverti G, Asai A, Hyeraci M, García-Argáez AN, Via LD, Guccione S, Villa S.

Anticancer Res. 2019 Jan;39(1):135-144. doi: 10.21873/anticanres.13089.

PMID:
30591450
12.

Columbus' egg: a practical approach to nutritional management in maple syrup urine disease.

Porta F, Busso M, Giorda S, Spada M.

J Pediatr Endocrinol Metab. 2019 Jan 28;32(1):83-84. doi: 10.1515/jpem-2018-0485. No abstract available.

PMID:
30530885
13.

Early higher dosage of alglucosidase alpha in classic Pompe disease.

Spada M, Pagliardini V, Ricci F, Biamino E, Mongini T, Porta F.

J Pediatr Endocrinol Metab. 2018 Dec 19;31(12):1343-1347. doi: 10.1515/jpem-2018-0336.

PMID:
30433875
14.

Synthesis and Characterization of PDMS-PMOXA-Based Polymersomes Sensitive to MMP-9 for Application in Breast Cancer.

Porta F, Ehrsam D, Lengerke C, Meyer Zu Schwabedissen HE.

Mol Pharm. 2018 Nov 5;15(11):4884-4897. doi: 10.1021/acs.molpharmaceut.8b00521. Epub 2018 Oct 15.

PMID:
30274515
15.

Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care.

Ricci F, Brusa C, Rossi F, Rolle E, Placentino V, Berardinelli A, Pagliardini V, Porta F, Spada M, Mongini T.

Eur J Paediatr Neurol. 2018 Nov;22(6):1103-1109. doi: 10.1016/j.ejpn.2018.08.001. Epub 2018 Aug 18.

PMID:
30166092
16.

A Rasch analysis of the Conley Scale in patients admitted to a general hospital.

Pellicciari L, Piscitelli D, Caselli S, La Porta F.

Disabil Rehabil. 2018 Jun 18:1-10. doi: 10.1080/09638288.2018.1478000. [Epub ahead of print]

PMID:
29912585
17.

Hematopoietic stem cell transplantation for isolated extramedullary relapse of acute lymphoblastic leukemia in children.

Gabelli M, Zecca M, Messina C, Carraro E, Buldini B, Rovelli AM, Fagioli F, Bertaina A, Lanino E, Favre C, Rabusin M, Prete A, Ripaldi M, Barberi W, Porta F, Caniglia M, Santarone S, D'Angelo P, Basso G, Locatelli F.

Bone Marrow Transplant. 2019 Feb;54(2):275-283. doi: 10.1038/s41409-018-0259-5. Epub 2018 Jun 13.

PMID:
29899572
18.

Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability.

Menduti G, Biamino E, Vittorini R, Vesco S, Puccinelli MP, Porta F, Capo C, Leo S, Ciminelli BM, Iacovelli F, Spada M, Falconi M, Malaspina P, Rossi L.

Mol Genet Metab. 2018 Jul;124(3):210-215. doi: 10.1016/j.ymgme.2018.05.006. Epub 2018 Jun 2.

PMID:
29895405
19.

Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism.

Porta F, Peruzzi L, Bonaudo R, Pieretti S, Busso M, Cocchi E, Conio A, Pagliardini V, Spada M.

Nephrology (Carlton). 2018 Oct;23(10):957-961. doi: 10.1111/nep.13409.

PMID:
29888426
20.

Antimicrobial activity of four essential oils against pigmenting Pseudomonas fluorescens and biofilmproducing Staphylococcus aureus of dairy origin.

Pedonese F, Fratini F, Pistelli L, Porta FM, Ciccio PD, Fischetti R, Turchi B, Nuvoloni R.

Ital J Food Saf. 2017 Dec 11;6(4):6939. doi: 10.4081/ijfs.2017.6939. eCollection 2017 Oct 20.

21.

Identification of calcium pyrophosphate deposition disease (CPPD) by ultrasound: reliability of the OMERACT definitions in an extended set of joints-an international multiobserver study by the OMERACT Calcium Pyrophosphate Deposition Disease Ultrasound Subtask Force.

Filippou G, Scirè CA, Adinolfi A, Damjanov NS, Carrara G, Bruyn GAW, Cazenave T, D'Agostino MA, Delle Sedie A, Di Sabatino V, Diaz Cortes ME, Filippucci E, Gandjbakhch F, Gutierrez M, Maccarter DK, Micu M, Möller Parera I, Mouterde G, Mortada MA, Naredo E, Pineda C, Porta F, Reginato AM, Satulu I, Schmidt WA, Serban T, Terslev L, Vlad V, Vreju FA, Zufferey P, Bozios P, Toscano C, Picerno V, Iagnocco A.

Ann Rheum Dis. 2018 Aug;77(8):1194-1199. doi: 10.1136/annrheumdis-2017-212542. Epub 2018 Mar 13.

22.

Long-lasting ergot lipids as new biomarkers for assessing the presence of cereals and cereal products in archaeological vessels.

Lucejko JJ, La Nasa J, Porta F, Vanzetti A, Tanda G, Mangiaracina CF, Corretti A, Colombini MP, Ribechini E.

Sci Rep. 2018 Mar 2;8(1):3935. doi: 10.1038/s41598-018-22140-z.

23.

Outcomes of Children with Hemophagocytic Lymphohistiocytosis Given Allogeneic Hematopoietic Stem Cell Transplantation in Italy.

Messina C, Zecca M, Fagioli F, Rovelli A, Giardino S, Merli P, Porta F, Aricò M, Sieni E, Basso G, Ripaldi M, Favre C, Pillon M, Marzollo A, Rabusin M, Cesaro S, Algeri M, Caniglia M, Di Bartolomeo P, Ziino O, Saglio F, Prete A, Locatelli F.

Biol Blood Marrow Transplant. 2018 Jun;24(6):1223-1231. doi: 10.1016/j.bbmt.2018.01.022. Epub 2018 Feb 2.

24.

Maternal T-cell engraftment impedes with diagnosis of a SCID-ADA patient.

Lanfranchi A, Lougaris V, Notarangelo LD, Soncini E, Comini M, Beghin A, Bolda F, Montanelli A, Imberti L, Porta F.

Clin Immunol. 2018 Aug;193:118-120. doi: 10.1016/j.clim.2018.01.004. Epub 2018 May 7.

PMID:
29355610
25.

Chronic Granulomatous Disease in children: a single center experience.

Beghin A, Comini M, Soresina A, Imberti L, Zucchi M, Plebani A, Montanelli A, Porta F, Lanfranchi A.

Clin Immunol. 2018 Mar;188:12-19. doi: 10.1016/j.clim.2017.11.016. Epub 2017 Dec 7.

PMID:
29223406
26.

Use of peripherally inserted central venous catheters (PICCs) in children receiving autologous or allogeneic stem-cell transplantation.

Benvenuti S, Ceresoli R, Boroni G, Parolini F, Porta F, Alberti D.

J Vasc Access. 2018 Mar;19(2):131-136. doi: 10.5301/jva.5000803. Epub 2018 Feb 19.

PMID:
29099537
27.

Hematopoietic stem cell transplantation in Niemann-Pick disease type B monitored by chitotriosidase activity.

Quarello P, Spada M, Porta F, Vassallo E, Timeus F, Fagioli F.

Pediatr Blood Cancer. 2018 Feb;65(2). doi: 10.1002/pbc.26811. Epub 2017 Nov 1.

PMID:
29090525
28.

The waterpolo shoulder paradigm: results of ultrasound surveillance at poolside.

Galluccio F, Bellucci E, Porta F, Tofani L, De Paulis A, Bianchedi D, Barskova T, Matucci-Cerinic M.

BMJ Open Sport Exerc Med. 2017 Jul 28;3(1):e000211. doi: 10.1136/bmjsem-2016-000211. eCollection 2017.

29.

Neonatal screening for biotinidase deficiency: A 30-year single center experience.

Porta F, Pagliardini V, Celestino I, Pavanello E, Pagliardini S, Guardamagna O, Ponzone A, Spada M.

Mol Genet Metab Rep. 2017 Sep 20;13:80-82. doi: 10.1016/j.ymgmr.2017.08.005. eCollection 2017 Dec.

30.

Long-Term Survival After Hematopoietic Stem Cell Transplantation for Complete STAT1 Deficiency.

Naviglio S, Soncini E, Vairo D, Lanfranchi A, Badolato R, Porta F.

J Clin Immunol. 2017 Oct;37(7):701-706. doi: 10.1007/s10875-017-0430-6. Epub 2017 Aug 16.

PMID:
28815344
31.

PDMS-b-PMOXA polymersomes for hepatocyte targeting and assessment of toxicity.

Kiene K, Schenk SH, Porta F, Ernst A, Witzigmann D, Grossen P, Huwyler J.

Eur J Pharm Biopharm. 2017 Oct;119:322-332. doi: 10.1016/j.ejpb.2017.07.002. Epub 2017 Jul 16.

PMID:
28720487
32.

Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria.

Porta F, Spada M, Ponzone A.

Pediatrics. 2017 Aug;140(2). pii: e20161591. doi: 10.1542/peds.2016-1591. Epub 2017 Jul 5.

33.

An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia.

Calvo PL, Spada M, Rabbone I, Pinon M, Porta F, Cisarò F, Reggiani S, Cefalù AB, Sturiale L, Garozzo D, Lefeber DJ, Jaeken J.

JIMD Rep. 2018;38:97-100. doi: 10.1007/8904_2017_35. Epub 2017 Jun 23.

34.

A field-based disparity analysis of new 1,2,5-oxadiazole derivatives endowed with antiproliferative activity.

Porta F, Gelain A, Barlocco D, Ferri N, Marchianò S, Cappello V, Basile L, Guccione S, Meneghetti F, Villa S.

Chem Biol Drug Des. 2017 Nov;90(5):820-839. doi: 10.1111/cbdd.13003. Epub 2017 May 14.

PMID:
28419754
35.

Immobilization of Enzymes on PLGA Sub-Micrometer Particles by Crosslinked Layer-by-Layer Deposition.

Sieber S, Siegrist S, Schwarz S, Porta F, Schenk SH, Huwyler J.

Macromol Biosci. 2017 Aug;17(8). doi: 10.1002/mabi.201700015. Epub 2017 Apr 7.

PMID:
28388000
36.

A meta-analysis on clinical outcomes after transaortic transcatheter aortic valve implantation by the Heart Team.

Amrane H, Porta F, Van Boven AV, Kappetein AP, Head SJ.

EuroIntervention. 2017 Jun 2;13(2):e168-e176. doi: 10.4244/EIJ-D-16-00103. Review.

37.

Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.

Hoenig M, Lagresle-Peyrou C, Pannicke U, Notarangelo LD, Porta F, Gennery AR, Slatter M, Cowan MJ, Stepensky P, Al-Mousa H, Al-Zahrani D, Pai SY, Al Herz W, Gaspar HB, Veys P, Oshima K, Imai K, Yabe H, Noroski LM, Wulffraat NM, Sykora KW, Soler-Palacin P, Muramatsu H, Al Hilali M, Moshous D, Debatin KM, Schuetz C, Jacobsen EM, Schulz AS, Schwarz K, Fischer A, Friedrich W, Cavazzana M; European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party.

Blood. 2017 May 25;129(21):2928-2938. doi: 10.1182/blood-2016-11-745638. Epub 2017 Mar 22.

38.

An in vivo active 1,2,5-oxadiazole Pt(II) complex: A promising anticancer agent endowed with STAT3 inhibitory properties.

Porta F, Facchetti G, Ferri N, Gelain A, Meneghetti F, Villa S, Barlocco D, Masciocchi D, Asai A, Miyoshi N, Marchianò S, Kwon BM, Jin Y, Gandin V, Marzano C, Rimoldi I.

Eur J Med Chem. 2017 May 5;131:196-206. doi: 10.1016/j.ejmech.2017.03.017. Epub 2017 Mar 15.

PMID:
28324784
39.

Definition and Reliability Assessment of Elementary Ultrasonographic Findings in Calcium Pyrophosphate Deposition Disease: A Study by the OMERACT Calcium Pyrophosphate Deposition Disease Ultrasound Subtask Force.

Filippou G, Scirè CA, Damjanov N, Adinolfi A, Carrara G, Picerno V, Toscano C, Bruyn GA, D'Agostino MA, Delle Sedie A, Filippucci E, Gutierrez M, Micu M, Möller I, Naredo E, Pineda C, Porta F, Schmidt WA, Terslev L, Vlad V, Zufferey P, Iagnocco A.

J Rheumatol. 2017 Nov;44(11):1744-1749. doi: 10.3899/jrheum.161057. Epub 2017 Mar 1.

PMID:
28250136
40.

Metabolic progression to clinical phenotype in classic Fabry disease.

Spada M, Kasper D, Pagliardini V, Biamino E, Giachero S, Porta F.

Ital J Pediatr. 2017 Jan 3;43(1):1. doi: 10.1186/s13052-016-0320-1.

41.
42.

Human B-cell memory is shaped by age- and tissue-specific T-independent and GC-dependent events.

Aranburu A, Piano Mortari E, Baban A, Giorda E, Cascioli S, Marcellini V, Scarsella M, Ceccarelli S, Corbelli S, Cantarutti N, De Vito R, Inserra A, Nicolosi L, Lanfranchi A, Porta F, Cancrini C, Finocchi A, Carsetti R.

Eur J Immunol. 2017 Feb;47(2):327-344. doi: 10.1002/eji.201646642. Epub 2016 Dec 14.

43.

One-Year Outcomes of Transcatheter Aortic Valve Implantation Using the Direct Aortic Approach.

Bruschi G, Branny M, Schiltgen M, Ettori F, Marcheix B, Amrane H, Bushnaq H, Tan MESH, Trivedi U, Branny P, Klugmann S, Coletti G, Dumonteil N, Porta F, Nordell A, Moat N.

Ann Thorac Surg. 2017 May;103(5):1434-1440. doi: 10.1016/j.athoracsur.2016.08.080. Epub 2016 Oct 25.

PMID:
27793402
44.

Efficacy of a Solution Composed by Verbascoside, Polyvinylpyrrolidone (PVP) and Sodium Hyaluronate in the Treatment of Chemotherapy-induced Oral Mucositis in Children With Acute Lymphoblastic Leukemia.

Bardellini E, Amadori F, Schumacher RF, D'Ippolito C, Porta F, Majorana A.

J Pediatr Hematol Oncol. 2016 Oct;38(7):559-62. doi: 10.1097/MPH.0000000000000669.

PMID:
27571124
45.

Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency.

Porta F, Ponzone A, Spada M.

Eur J Paediatr Neurol. 2016 Nov;20(6):839-842. doi: 10.1016/j.ejpn.2016.08.006. Epub 2016 Aug 15.

46.

Transdermal rotigotine in dihydropteridine reductase deficiency.

Romagnolo A, Merola A, Porta F, Spada M, Lopiano L, Rizzone MG.

J Neurol Sci. 2016 Aug 15;367:237-8. doi: 10.1016/j.jns.2016.06.018. Epub 2016 Jun 9. No abstract available.

PMID:
27423595
47.

Secreted Matrix Metalloproteinase-9 of Proliferating Smooth Muscle Cells as a Trigger for Drug Release from Stent Surface Polymers in Coronary Arteries.

Gliesche DG, Hussner J, Witzigmann D, Porta F, Glatter T, Schmidt A, Huwyler J, Meyer Zu Schwabedissen HE.

Mol Pharm. 2016 Jul 5;13(7):2290-300. doi: 10.1021/acs.molpharmaceut.6b00033. Epub 2016 Jun 9.

PMID:
27241028
48.

Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency.

Prandini A, Salvi V, Colombo F, Moratto D, Lorenzi L, Vermi W, De Francesco MA, Notarangelo LD, Porta F, Plebani A, Facchetti F, Sozzani S, Badolato R.

Blood. 2016 Jun 30;127(26):3382-6. doi: 10.1182/blood-2015-06-650689. Epub 2016 May 13.

49.

Metastatic neuroblastoma in infants: are survival rates excellent only within the stringent framework of clinical trials?

Di Cataldo A, Agodi A, Balaguer J, Garaventa A, Barchitta M, Segura V, Bianchi M, Castel V, Castellano A, Cesaro S, Couselo JM, Cruz O, D'Angelo P, De Bernardi B, Donat J, de Andoin NG, Hernandez MI, La Spina M, Lillo M, Lopez-Almaraz R, Luksch R, Mastrangelo S, Mateos E, Molina J, Moscheo C, Mura R, Porta F, Russo G, Tondo A, Torrent M, Vetrella S, Villegas JA, Viscardi E, Zanazzo GA, Cañete A.

Clin Transl Oncol. 2017 Jan;19(1):76-83. doi: 10.1007/s12094-016-1505-1. Epub 2016 Apr 4.

PMID:
27041689
50.

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.

Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ.

Am J Hum Genet. 2016 Feb 4;98(2):322-30. doi: 10.1016/j.ajhg.2015.12.011. Epub 2016 Jan 28.

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