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A
Li M, Li Y, Weeks O, Mijatovic V, Teumer A, Huffman JE, Tromp G, Fuchsberger C, Gorski M, Lyytikäinen L-P, Nutile T, Sedaghat S, Sorice R, Tin A, Yang Q, Ahluwalia TS, Arking DE, Bihlmeyer NA, Böger CA, Carroll RJ, Chasman DI, Cornelis MC, Dehghan A, Faul JD, Feitosa MF, Gambaro G, Gasparini P, Giulianini F, Heid I, Huang J, Imboden M, Jackson AU, Jeff J, Jhun MA, Katz R, Kifley A, Kilpeläinen TO, Kumar A, Laakso M, Li-Gao R, Lohman K, Lu Y, Mägi R, Malerba G, Mihailov E, Mohlke KL, Mook-Kanamori DO, Robino A, Ruderfer D, Salvi E, Schick UM, Schulz C-A, Smith AV, Smith JA, Traglia M, Yerges-Armstrong LM, Zhao W, Goodarzi MO, Kraja AT, Liu C, Wessel J, Boerwinkle E, Borecki IB, Bork-Jensen J, Bottinger EP, Braga D, Brandslund I, Brody JA, Campbell A, Carey DJ, Christensen C, Coresh J, Crook E, Curhan GC, Cusi D, de Boer IH, de Vries APJ, Denny JC, Devuyst O, Dreisbach AW, Endlich K, Esko T, Franco OH, Fulop T, Gerhard GS, Glümer C, Gottesman O, Grarup N, Gudnason V, Hansen T, Harris TB, Hayward C, Hocking L, Hofman A, Hu FB, Husemoen LLotte N, Jackson RD, Jørgensen T, Jørgensen ME, Kähönen M, Kardia SLR, König W, Kooperberg C, Kriebel J, Launer LJ, Lauritzen T, Lehtimäki T, Levy D, Linksted P, Linneberg A, Liu Y, Loos RJF, Lupo A, Meisinger C, Melander O, Metspalu A, Mitchell P, Nauck M, Nürnberg P, Orho-Melander M, Parsa A, Pedersen O, Peters A, Peters U, Polasek O, Porteous D, Probst-Hensch NM, Psaty BM, Qi L, Raitakari OT, Reiner AP, Rettig R, Ridker PM, Rivadeneira F, Rossouw JE, Schmidt F, Siscovick D, Soranzo N, Strauch K, Toniolo D, Turner ST, Uitterlinden AG, Ulivi S, Velayutham D, Völker U, Völzke H, Waldenberger M, Wang JJin, Weir DR, Witte D, Kuivaniemi H, Fox CS, Franceschini N, Goessling W, Köttgen A, Chu AY. and Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function. J Am Soc Nephrol 2017;28(3):981-994.
Pontillo A, Di Toro N, Edomi P, Shadlow A, Ammadeo A, Gattorno M, Not T, Lepore L, Crovella S. Anti-α-enolase Antibodies in Serum from Pediatric Patients Affected by Inflammatory Diseases: Diagnostic and Pathogenetic Insights. Int J Rheumatol 2011;2011:870214.
Cenedese V, Mezzavilla M, Morgan A, Marino R, Ettorre CPietro, Margaglione M, Gasparini P, Menini A. Assessment of the olfactory function in Italian patients with type 3 von Willebrand disease caused by a homozygous 253 Kb deletion involving VWF and TMEM16B/ANO2. PLoS One 2015;10(1):e0116483.
Faletra F, d'Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, Gasparini P. Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. Am J Med Genet A 2014;164A(1):42-7.
C
Kassebaum N, Kyu HHmwe, Zoeckler L, Olsen HElizabeth, Thomas K, Pinho C, Bhutta ZA, Dandona L, Ferrari A, Ghiwot TTewelde, Hay SI, Kinfu Y, Liang X, Lopez A, Malta DCarvalho, Mokdad AH, Naghavi M, Patton GC, Salomon J, Sartorius B, Topor-Madry R, Vollset SEmil, Werdecker A, Whiteford HA, Abate KHasen, Abbas K, Damtew SAbrha, Ahmed MBeshir, Akseer N, Al-Raddadi R, Alemayohu MAssefa, Altirkawi K, Abajobir AAlemu, Amare AT, Antonio CAT, Arnlöv J, Artaman A, Asayesh H, Avokpaho EFrinel GA, Awasthi A, Quintanilla BPaulina Ay, Bacha U, Betsu BDemtsu, Barac A, Bärnighausen TWinfried, Baye E, Bedi N, Bensenor IM, Berhane A, Bernabe E, Bernal OAlberto, Beyene AShunu, Biadgilign S, Bikbov B, Boyce CAnne, Brazinova A, Hailu GBugssa, Carter A, Castañeda-Orjuela CA, Catalá-López F, Charlson FJ, Chitheer AA, Choi J-YJasmine, Ciobanu LG, Crump J, Dandona R, Dellavalle RP, Deribew A, deVeber G, Dicker D, Ding EL, Dubey M, Endries AYesuf, Erskine HE, Faraon EJose Aquin, Faro A, Farzadfar F, Fernandes JC, Fijabi DObadare, Fitzmaurice C, Fleming TD, Flor LSorio, Foreman KJ, Franklin RC, Fraser MS, Frostad JJ, Fullman N, Gebregergs GBerhe, Gebru AAregay, Geleijnse JM, Gibney KB, Yihdego MGidey, Ginawi IAbdelmagee, Gishu MDedefo, Gizachew TAssefa, Glaser E, Gold AL, Goldberg E, Gona P, Goto A, Gugnani HChander, Jiang G, Gupta R, Tesfay FHaile, Hankey GJ, Havmoeller R, Hijar M, Horino M, H Hosgood D, Hu G, Jacobsen KH, Jakovljevic MB, Jayaraman SP, Jha V, Jibat T, Johnson CO, Jonas J, Kasaeian A, Kawakami N, Keiyoro PN, Khalil I, Khang Y-H, Khubchandani J, Kiadaliri AAAhmad, Kieling C, Kim D, Kissoon N, Knibbs LD, Koyanagi A, Krohn KJ, Defo BKuate, Bicer BKucuk, Kulikoff R, G Kumar A, Lal DKumar, Lam HY, Larson HJ, Larsson A, Laryea DOdai, Leung J, Lim SS, Lo L-T, Lo WD, Looker KJ, Lotufo PA, Razek HMagdy Abd, Malekzadeh R, Shifti DMarkos, Mazidi M, Meaney PA, Meles KGebremaria, Memiah P, Mendoza W, Mengistie MAbera, Mengistu GWelday, Mensah GA, Miller TR, Mock C, Mohammadi A, Mohammed S, Monasta L, Mueller U, Nagata C, Naheed A, Nguyen G, Le Nguyen Q, Nsoesie E, Oh I-H, Okoro A, Olusanya JOlusegun, Olusanya BO, Ortiz A, Paudel D, Pereira DM, Perico N, Petzold M, Phillips MRobert, Polanczyk GV, Pourmalek F, Qorbani M, Rafay A, Rahimi-Movaghar V, Rahman M, Rai RKumar, Ram U, Rankin Z, Remuzzi G, Renzaho AMN, Roba HShore, Rojas-Rueda D, Ronfani L, Sagar R, Sanabria JRamon, Mohammed MSano Kedir, Santos IS, Satpathy M, Sawhney M, Schöttker B, Schwebel DC, Scott JG, Sepanlou SG, Shaheen A, Shaikh MAli, She J, Shiri R, Shiue I, Sigfusdottir IDora, Singh J, Silpakit N, Smith A, Sreeramareddy C, Stanaway JD, Stein DJ, Steiner C, Sufiyan MBabale, Swaminathan S, Tabarés-Seisdedos R, Tabb KM, Tadese F, Tavakkoli M, Taye B, Teeple S, Tegegne TKassaw, Shifa GTemam, Terkawi ASulieman, Thomas B, Thomson AJ, Tobe-Gai R, Tonelli M, Tran BXuan, Troeger C, Ukwaja KN, Uthman O, Vasankari T, Venketasubramanian N, Vlassov VVictorovic, Weiderpass E, Weintraub R, Gebrehiwot SWeldemaria, Westerman R, Williams HC, Wolfe CDA, Woodbrook R, Yano Y, Yonemoto N, Yoon S-J, Younis MZ, Yu C, Zaki MEl Sayed, Zegeye EAsfaw, Zuhlke LJoanna, Murray CJL, Vos T. Child and Adolescent Health From 1990 to 2015: Findings From the Global Burden of Diseases, Injuries, and Risk Factors 2015 Study. JAMA Pediatr 2017;171(6):573-592.
Kassebaum N, Kyu HHmwe, Zoeckler L, Olsen HElizabeth, Thomas K, Pinho C, Bhutta ZA, Dandona L, Ferrari A, Ghiwot TTewelde, Hay SI, Kinfu Y, Liang X, Lopez A, Malta DCarvalho, Mokdad AH, Naghavi M, Patton GC, Salomon J, Sartorius B, Topor-Madry R, Vollset SEmil, Werdecker A, Whiteford HA, Abate KHasen, Abbas K, Damtew SAbrha, Ahmed MBeshir, Akseer N, Al-Raddadi R, Alemayohu MAssefa, Altirkawi K, Abajobir AAlemu, Amare AT, Antonio CAT, Arnlöv J, Artaman A, Asayesh H, Avokpaho EFrinel GA, Awasthi A, Quintanilla BPaulina Ay, Bacha U, Betsu BDemtsu, Barac A, Bärnighausen TWinfried, Baye E, Bedi N, Bensenor IM, Berhane A, Bernabe E, Bernal OAlberto, Beyene AShunu, Biadgilign S, Bikbov B, Boyce CAnne, Brazinova A, Hailu GBugssa, Carter A, Castañeda-Orjuela CA, Catalá-López F, Charlson FJ, Chitheer AA, Choi J-YJasmine, Ciobanu LG, Crump J, Dandona R, Dellavalle RP, Deribew A, deVeber G, Dicker D, Ding EL, Dubey M, Endries AYesuf, Erskine HE, Faraon EJose Aquin, Faro A, Farzadfar F, Fernandes JC, Fijabi DObadare, Fitzmaurice C, Fleming TD, Flor LSorio, Foreman KJ, Franklin RC, Fraser MS, Frostad JJ, Fullman N, Gebregergs GBerhe, Gebru AAregay, Geleijnse JM, Gibney KB, Yihdego MGidey, Ginawi IAbdelmagee, Gishu MDedefo, Gizachew TAssefa, Glaser E, Gold AL, Goldberg E, Gona P, Goto A, Gugnani HChander, Jiang G, Gupta R, Tesfay FHaile, Hankey GJ, Havmoeller R, Hijar M, Horino M, H Hosgood D, Hu G, Jacobsen KH, Jakovljevic MB, Jayaraman SP, Jha V, Jibat T, Johnson CO, Jonas J, Kasaeian A, Kawakami N, Keiyoro PN, Khalil I, Khang Y-H, Khubchandani J, Kiadaliri AAAhmad, Kieling C, Kim D, Kissoon N, Knibbs LD, Koyanagi A, Krohn KJ, Defo BKuate, Bicer BKucuk, Kulikoff R, G Kumar A, Lal DKumar, Lam HY, Larson HJ, Larsson A, Laryea DOdai, Leung J, Lim SS, Lo L-T, Lo WD, Looker KJ, Lotufo PA, Razek HMagdy Abd, Malekzadeh R, Shifti DMarkos, Mazidi M, Meaney PA, Meles KGebremaria, Memiah P, Mendoza W, Mengistie MAbera, Mengistu GWelday, Mensah GA, Miller TR, Mock C, Mohammadi A, Mohammed S, Monasta L, Mueller U, Nagata C, Naheed A, Nguyen G, Le Nguyen Q, Nsoesie E, Oh I-H, Okoro A, Olusanya JOlusegun, Olusanya BO, Ortiz A, Paudel D, Pereira DM, Perico N, Petzold M, Phillips MRobert, Polanczyk GV, Pourmalek F, Qorbani M, Rafay A, Rahimi-Movaghar V, Rahman M, Rai RKumar, Ram U, Rankin Z, Remuzzi G, Renzaho AMN, Roba HShore, Rojas-Rueda D, Ronfani L, Sagar R, Sanabria JRamon, Mohammed MSano Kedir, Santos IS, Satpathy M, Sawhney M, Schöttker B, Schwebel DC, Scott JG, Sepanlou SG, Shaheen A, Shaikh MAli, She J, Shiri R, Shiue I, Sigfusdottir IDora, Singh J, Silpakit N, Smith A, Sreeramareddy C, Stanaway JD, Stein DJ, Steiner C, Sufiyan MBabale, Swaminathan S, Tabarés-Seisdedos R, Tabb KM, Tadese F, Tavakkoli M, Taye B, Teeple S, Tegegne TKassaw, Shifa GTemam, Terkawi ASulieman, Thomas B, Thomson AJ, Tobe-Gai R, Tonelli M, Tran BXuan, Troeger C, Ukwaja KN, Uthman O, Vasankari T, Venketasubramanian N, Vlassov VVictorovic, Weiderpass E, Weintraub R, Gebrehiwot SWeldemaria, Westerman R, Williams HC, Wolfe CDA, Woodbrook R, Yano Y, Yonemoto N, Yoon S-J, Younis MZ, Yu C, Zaki MEl Sayed, Zegeye EAsfaw, Zuhlke LJoanna, Murray CJL, Vos T. Child and Adolescent Health From 1990 to 2015: Findings From the Global Burden of Diseases, Injuries, and Risk Factors 2015 Study. JAMA Pediatr 2017;171(6):573-592.
von Lowtzow C, Hofmann A, Zhang R, Marsch F, Ebert A-K, Rösch W, Stein R, Boemers TM, Hirsch K, Marcelis C, Feitz WFJ, Brusco A, Migone N, Di Grazia M, Moebus S, Nöthen MM, Reutter H, Ludwig M, Draaken M. CNV analysis in 169 patients with bladder exstrophy-epispadias complex. BMC Med Genet 2016;17(1):35.
Ribes-Koninckx C, Mearin ML, Korponay-Szabó IR, Shamir R, Husby S, Ventura A, Branski D, Catassi C, Koletzko S, Mäki M, Troncone R, Zimmer KP. Coeliac disease diagnosis: ESPGHAN 1990 criteria or need for a change? Results of a questionnaire. J Pediatr Gastroenterol Nutr 2012;54(1):15-9.
Galli E, Neri I, Ricci G, Baldo E, Barone M, Fortina ABelloni, Bernardini R, Berti I, Caffarelli C, Calamelli E, Capra L, Carello R, Cipriani F, Comberiati P, Diociaiuti A, Hachem MEl, Fontana E, Gruber M, Haddock E, Maiello N, Meglio P, Patrizi A, Peroni D, Scarponi D, Wielander I, Eichenfield LF. Consensus Conference on Clinical Management of pediatric Atopic Dermatitis. Ital J Pediatr 2016;42:26.
Llop S, Tran V, Ballester F, Barbone F, Sofianou-Katsoulis A, Sunyer J, Engström K, Alhamdow A, Love TM, Watson GE, Bustamante M, Murcia M, Iñiguez C, Shamlaye CF, Rosolen V, Mariuz M, Horvat M, Tratnik JS, Mazej D, van Wijngaarden E, Davidson PW, Myers GJ, Rand MD, Broberg K. CYP3A genes and the association between prenatal methylmercury exposure and neurodevelopment. Environ Int 2017;105:34-42.
D
Bonaglia MClara, Kurtas NEdibe, Errichiello E, Bertuzzo S, Beri S, Mehrjouy MM, Provenzano A, Vergani D, Pecile V, Novara F, Reho P, Di Giacomo MCarmela, Discepoli G, Giorda R, Aldred MA, Santos-Rebouças CBarros, Goncalves APereira, Abuelo DN, Giglio S, Ricca I, Franchi F, Patsalis P, Sismani C, Morí MAngeles, Nevado J, Tommerup N, Zuffardi O. De novo unbalanced translocations have a complex history/aetiology. Hum Genet 2018;137(10):817-829.
Ntoburi S, Hutchings A, Sanderson C, Carpenter J, Weber M, English M. Development of paediatric quality of inpatient care indicators for low-income countries - A Delphi study. BMC Pediatr 2010;10:90.

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