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Best matches for DESCHÊNES G[au]:

Biomarkers of IgA vasculitis nephritis in children. Pillebout E et al. PLoS One. (2017)

Clinical and Genetic Spectrum of Bartter Syndrome Type 3. Seys E et al. J Am Soc Nephrol. (2017)

Prevalence of Novel <i>MAGED2</i> Mutations in Antenatal Bartter Syndrome. Legrand A et al. Clin J Am Soc Nephrol. (2018)

Search results

Items: 1 to 50 of 238

1.

Management of bone disease in cystinosis: Statement from an international conference.

Hohenfellner K, Rauch F, Ariceta G, Awan A, Bacchetta J, Bergmann C, Pozza SB, Cassidy N, Deschenes G, Elenberg E, Gahl WA, Greil O, Harms E, Herzig N, Hoppe B, Koeppl C, Lewis MA, Levtchenko E, Nesterova G, Santos F, Schlingmann KP, Servais A, Soliman NA, Steidle G, Sweeney C, Treikauskas U, Topaloglu R, Tsygin A, Veys K, V Vigier R, Zustin J, Haffner D.

J Inherit Metab Dis. 2019 Jun 8. doi: 10.1002/jimd.12134. [Epub ahead of print]

PMID:
31177550
2.

Quality of life in adolescents with chronic kidney disease who initiate haemodialysis treatment.

Clavé S, Tsimaratos M, Boucekine M, Ranchin B, Salomon R, Dunand O, Garnier A, Lahoche A, Fila M, Roussey G, Broux F, Harambat J, Cloarec S, Menouer S, Deschenes G, Vrillon I, Auquier P, Berbis J.

BMC Nephrol. 2019 May 14;20(1):163. doi: 10.1186/s12882-019-1365-3.

3.

Stiripentol protects against calcium oxalate nephrolithiasis and ethylene glycol poisoning.

Le Dudal M, Huguet L, Perez J, Vandermeersch S, Bouderlique E, Tang E, Martori C, Chemaly N, Nabbout R, Haymann JP, Frochot V, Baud L, Deschênes G, Daudon M, Letavernier E.

J Clin Invest. 2019 Apr 4;130:2571-2577. doi: 10.1172/JCI99822.

4.

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.

Germain DP, Fouilhoux A, Decramer S, Tardieu M, Pillet P, Fila M, Rivera S, Deschênes G, Lacombe D.

Clin Genet. 2019 Apr 2. doi: 10.1111/cge.13546. [Epub ahead of print]

PMID:
30941742
5.

Asymptomatic bacteriuria in pediatric kidney transplant recipients: to treat or not to treat? A retrospective study.

Bonnéric S, Maisin A, Kwon T, Deschênes G, Niel O.

Pediatr Nephrol. 2019 Jun;34(6):1141-1145. doi: 10.1007/s00467-019-04204-y. Epub 2019 Feb 28.

PMID:
30820703
6.

Steroid therapy in children with IgA nephropathy.

Cambier A, Boyer O, Deschenes G, Gleeson J, Couderc A, Hogan J, Robert T.

Pediatr Nephrol. 2019 Feb 18. doi: 10.1007/s00467-018-4189-7. [Epub ahead of print] Review.

PMID:
30778826
7.

Complement Gene Variants and Shiga Toxin-Producing Escherichia coli-Associated Hemolytic Uremic Syndrome: Retrospective Genetic and Clinical Study.

Frémeaux-Bacchi V, Sellier-Leclerc AL, Vieira-Martins P, Limou S, Kwon T, Lahoche A, Novo R, Llanas B, Nobili F, Roussey G, Cailliez M, Ulinski T, Deschênes G, Alberti C, Weill FX, Mariani P, Loirat C.

Clin J Am Soc Nephrol. 2019 Mar 7;14(3):364-377. doi: 10.2215/CJN.05830518. Epub 2019 Jan 23.

PMID:
30674459
8.

Five-year outcome of children with idiopathic nephrotic syndrome: the NEPHROVIR population-based cohort study.

Dossier C, Delbet JD, Boyer O, Daoud P, Mesples B, Pellegrino B, See H, Benoist G, Chace A, Larakeb A, Hogan J, Deschênes G.

Pediatr Nephrol. 2019 Apr;34(4):671-678. doi: 10.1007/s00467-018-4149-2. Epub 2018 Dec 14.

PMID:
30552564
9.

Effect of nonsteroidal anti-inflammatory drugs in children with Bartter syndrome.

Gasongo G, Greenbaum LA, Niel O, Kwon T, Macher MA, Maisin A, Baudouin V, Dossier C, Deschênes G, Hogan J.

Pediatr Nephrol. 2019 Apr;34(4):679-684. doi: 10.1007/s00467-018-4135-8. Epub 2018 Nov 13.

PMID:
30426218
10.

How to improve response to rituximab treatment in children with steroid-dependent nephrotic syndrome: answer to Drs. Fujinaga and Nishino.

Hogan J, Deschenes G.

Pediatr Nephrol. 2019 Feb;34(2):361-362. doi: 10.1007/s00467-018-4133-x. Epub 2018 Nov 7. No abstract available.

PMID:
30406369
11.

Remission of proteinuria in multidrug-resistant idiopathic nephrotic syndrome following immunoglobulin immunoadsorption.

Nattes E, Karaa D, Dehoux L, Peuchmaur M, Kwon T, Deschênes G.

Acta Paediatr. 2019 Apr;108(4):757-762. doi: 10.1111/apa.14582. Epub 2018 Oct 15.

PMID:
30230027
12.

Urine biochemistry to predict long-term outcomes in fetuses with posterior urethral valves.

Dreux S, Rosenblatt J, Moussy-Durandy A, Patin F, Favre R, Lortat-Jacob S, El Ghoneimi A, Oury JF, Deschenes G, Ville Y, Heidet L, Muller F.

Prenat Diagn. 2018 Nov;38(12):964-970. doi: 10.1002/pd.5359. Epub 2018 Sep 27.

PMID:
30207389
13.

Cobalamin C Deficiency Induces a Typical Histopathological Pattern of Renal Arteriolar and Glomerular Thrombotic Microangiopathy.

Lemoine M, François A, Grangé S, Rabant M, Châtelet V, Cassiman D, Cornec-Le Gall E, Ambrosetti D, Deschênes G, Benoist JF, Guerrot D.

Kidney Int Rep. 2018 Jun 8;3(5):1153-1162. doi: 10.1016/j.ekir.2018.05.015. eCollection 2018 Sep.

14.

Interdialytic weight gain and vasculopathy in children on hemodialysis: a single center study.

Karava V, Benzouid C, Kwon T, Macher MA, Deschênes G, Hogan J.

Pediatr Nephrol. 2018 Dec;33(12):2329-2336. doi: 10.1007/s00467-018-4026-z. Epub 2018 Sep 3.

PMID:
30178237
15.

Effect of different rituximab regimens on B cell depletion and time to relapse in children with steroid-dependent nephrotic syndrome.

Hogan J, Dossier C, Kwon T, Macher MA, Maisin A, Couderc A, Niel O, Baudouin V, Deschênes G.

Pediatr Nephrol. 2019 Feb;34(2):253-259. doi: 10.1007/s00467-018-4052-x. Epub 2018 Aug 14.

PMID:
30109447
16.

Immunosuppressive Treatment in Children With IgA Nephropathy and the Clinical Value of Podocytopathic Features.

Cambier A, Rabant M, Peuchmaur M, Hertig A, Deschenes G, Couchoud C, Kolko A, Salomon R, Hogan J, Robert T.

Kidney Int Rep. 2018 Mar 29;3(4):916-925. doi: 10.1016/j.ekir.2018.03.013. eCollection 2018 Jul.

17.

Artificial intelligence outperforms experienced nephrologists to assess dry weight in pediatric patients on chronic hemodialysis.

Niel O, Bastard P, Boussard C, Hogan J, Kwon T, Deschênes G.

Pediatr Nephrol. 2018 Oct;33(10):1799-1803. doi: 10.1007/s00467-018-4015-2. Epub 2018 Jul 9.

PMID:
29987454
18.

Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.

Debiec H, Dossier C, Letouzé E, Gillies CE, Vivarelli M, Putler RK, Ars E, Jacqz-Aigrain E, Elie V, Colucci M, Debette S, Amouyel P, Elalaoui SC, Sefiani A, Dubois V, Simon T, Kretzler M, Ballarin J, Emma F, Sampson MG, Deschênes G, Ronco P.

J Am Soc Nephrol. 2018 Jul;29(7):2000-2013. doi: 10.1681/ASN.2017111185. Epub 2018 Jun 14.

PMID:
29903748
19.

Treating the idiopathic nephrotic syndrome: are steroids the answer?

Deschênes G, Dossier C, Hogan J.

Pediatr Nephrol. 2019 May;34(5):777-785. doi: 10.1007/s00467-018-3963-x. Epub 2018 Jun 4.

PMID:
29869116
20.

A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification.

Bignon Y, Alekov A, Frachon N, Lahuna O, Jean-Baptiste Doh-Egueli C, Deschênes G, Vargas-Poussou R, Lourdel S.

Hum Mutat. 2018 Aug;39(8):1139-1149. doi: 10.1002/humu.23556. Epub 2018 Jun 4.

PMID:
29791050
21.

Early cardiovascular manifestations in children and adolescents with autosomal dominant polycystic kidney disease: a single center study.

Karava V, Benzouid C, Hogan J, Dossier C, Denjean AP, Deschênes G.

Pediatr Nephrol. 2018 Sep;33(9):1513-1521. doi: 10.1007/s00467-018-3964-9. Epub 2018 May 17.

PMID:
29774463
22.

Prevalence of Hypertension in Children with Early-Stage ADPKD.

Massella L, Mekahli D, Paripović D, Prikhodina L, Godefroid N, Niemirska A, Ağbaş A, Kalicka K, Jankauskiene A, Mizerska-Wasiak M, Afonso AC, Salomon R, Deschênes G, Ariceta G, Özçakar ZB, Teixeira A, Duzova A, Harambat J, Seeman T, Hrčková G, Lungu AC, Papizh S, Peco-Antic A, De Rechter S, Giordano U, Kirchner M, Lutz T, Schaefer F, Devuyst O, Wühl E, Emma F.

Clin J Am Soc Nephrol. 2018 Jun 7;13(6):874-883. doi: 10.2215/CJN.11401017. Epub 2018 Apr 19.

23.

Teenagers and young adults with nephropathic cystinosis display significant bone disease and cortical impairment.

Bertholet-Thomas A, Claramunt-Taberner D, Gaillard S, Deschênes G, Sornay-Rendu E, Szulc P, Cohen-Solal M, Pelletier S, Carlier MC, Cochat P, Bacchetta J.

Pediatr Nephrol. 2018 Jul;33(7):1165-1172. doi: 10.1007/s00467-018-3902-x. Epub 2018 Feb 12.

PMID:
29435659
24.

Pharmacogenetics of post-transplant diabetes mellitus in children with renal transplantation treated with tacrolimus.

Lancia P, Adam de Beaumais T, Elie V, Garaix F, Fila M, Nobili F, Ranchin B, Testevuide P, Ulinski T, Zhao W, Deschênes G, Jacqz-Aigrain E.

Pediatr Nephrol. 2018 Jun;33(6):1045-1055. doi: 10.1007/s00467-017-3881-3. Epub 2018 Feb 4.

PMID:
29399716
25.

Severe neonatal hypertension revealing arterial tortuosity syndrome.

de Marcellus C, Baudouin V, Tanase A, Monet C, Perrin L, Deschenes G, Hogan J.

Kidney Int. 2018 Feb;93(2):526. doi: 10.1016/j.kint.2017.09.007. No abstract available.

PMID:
29389400
26.

Autoantibodies against podocytic UCHL1 are associated with idiopathic nephrotic syndrome relapses and induce proteinuria in mice.

Jamin A, Berthelot L, Couderc A, Chemouny JM, Boedec E, Dehoux L, Abbad L, Dossier C, Daugas E, Monteiro RC, Deschênes G.

J Autoimmun. 2018 May;89:149-161. doi: 10.1016/j.jaut.2017.12.014. Epub 2018 Jan 4.

27.

Fluid status evaluation by inferior vena cava diameter and bioimpedance spectroscopy in pediatric chronic hemodialysis.

Torterüe X, Dehoux L, Macher MA, Niel O, Kwon T, Deschênes G, Hogan J.

BMC Nephrol. 2017 Dec 28;18(1):373. doi: 10.1186/s12882-017-0793-1.

28.

Autologous arteriovenous fistulas for hemodialysis using microsurgery techniques in children weighing less than 20 kg.

Karava V, Jehanno P, Kwon T, Deschênes G, Macher MA, Bourquelot P.

Pediatr Nephrol. 2018 May;33(5):855-862. doi: 10.1007/s00467-017-3854-6. Epub 2017 Dec 5.

PMID:
29209823
29.

Biomarkers of IgA vasculitis nephritis in children.

Pillebout E, Jamin A, Ayari H, Housset P, Pierre M, Sauvaget V, Viglietti D, Deschenes G, Monteiro RC, Berthelot L; HSPrognosis group.

PLoS One. 2017 Nov 30;12(11):e0188718. doi: 10.1371/journal.pone.0188718. eCollection 2017.

30.

Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.

Legrand A, Treard C, Roncelin I, Dreux S, Bertholet-Thomas A, Broux F, Bruno D, Decramer S, Deschenes G, Djeddi D, Guigonis V, Jay N, Khalifeh T, Llanas B, Morin D, Morin G, Nobili F, Pietrement C, Ryckewaert A, Salomon R, Vrillon I, Blanchard A, Vargas-Poussou R.

Clin J Am Soc Nephrol. 2018 Feb 7;13(2):242-250. doi: 10.2215/CJN.05670517. Epub 2017 Nov 16.

31.

Hypernatremia and acute pancreatitis in chronic kidney disease: back to the salt mines. Answers.

de Tersant M, Kwon T, Macher MA, Maisin A, Deschênes G, Niel O.

Pediatr Nephrol. 2018 Jul;33(7):1157-1158. doi: 10.1007/s00467-017-3824-z. Epub 2017 Oct 24. No abstract available.

PMID:
29067526
32.

Hypernatremia and acute pancreatitis in chronic kidney disease: back to the salt mines. Questions.

de Tersant M, Kwon T, Macher MA, Maisin A, Deschênes G, Niel O.

Pediatr Nephrol. 2018 Jul;33(7):1155-1156. doi: 10.1007/s00467-017-3821-2. Epub 2017 Oct 24.

PMID:
29067525
33.

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.

Dorval G, Gribouval O, Martinez-Barquero V, Machuca E, Tête MJ, Baudouin V, Benoit S, Chabchoub I, Champion G, Chauveau D, Chehade H, Chouchane C, Cloarec S, Cochat P, Dahan K, Dantal J, Delmas Y, Deschênes G, Dolhem P, Durand D, Ekinci Z, El Karoui K, Fischbach M, Grunfeld JP, Guigonis V, Hachicha M, Hogan J, Hourmant M, Hummel A, Kamar N, Krummel T, Lacombe D, Llanas B, Mesnard L, Mohsin N, Niaudet P, Nivet H, Parvex P, Pietrement C, de Pontual L, Noble CP, Ribes D, Ronco P, Rondeau E, Sallee M, Tsimaratos M, Ulinski T, Salomon R, Antignac C, Boyer O.

Pediatr Nephrol. 2018 Mar;33(3):473-483. doi: 10.1007/s00467-017-3819-9. Epub 2017 Oct 23.

PMID:
29058154
34.

Treatment by immunoadsorption for recurrent focal segmental glomerulosclerosis after paediatric kidney transplantation: a multicentre French cohort.

Allard L, Kwon T, Krid S, Bacchetta J, Garnier A, Novo R, Deschenes G, Salomon R, Roussey G, Allain-Launay E.

Nephrol Dial Transplant. 2018 Jun 1;33(6):954-963. doi: 10.1093/ndt/gfx214.

PMID:
28992235
35.

Nephrotic-range proteinuria and brown urine in an 8-year-old girl: Answers.

Saucier E, Hogan J, Peuchmaur M, Deschênes G, Baruchel A, Karava V.

Pediatr Nephrol. 2018 Jun;33(6):1003-1005. doi: 10.1007/s00467-017-3797-y. Epub 2017 Sep 18. No abstract available.

PMID:
28921340
36.

Nephrotic-range proteinuria and brown urine in an 8-year-old girl: Questions.

Saucier E, Hogan J, Peuchmaur M, Deschênes G, Baruchel A, Karava V.

Pediatr Nephrol. 2018 Jun;33(6):1001-1002. doi: 10.1007/s00467-017-3795-0. Epub 2017 Sep 18. No abstract available.

PMID:
28921016
37.

Combination therapy of rituximab and mycophenolate mofetil in childhood lupus nephritis.

Hogan J, Godron A, Baudouin V, Kwon T, Harambat J, Deschênes G, Niel O.

Pediatr Nephrol. 2018 Jan;33(1):111-116. doi: 10.1007/s00467-017-3767-4. Epub 2017 Aug 5.

PMID:
28780657
38.

C5 nephritic factors drive the biological phenotype of C3 glomerulopathies.

Marinozzi MC, Chauvet S, Le Quintrec M, Mignotet M, Petitprez F, Legendre C, Cailliez M, Deschenes G, Fischbach M, Karras A, Nobili F, Pietrement C, Dragon-Durey MA, Fakhouri F, Roumenina LT, Fremeaux-Bacchi V.

Kidney Int. 2017 Nov;92(5):1232-1241. doi: 10.1016/j.kint.2017.04.017. Epub 2017 Jul 14.

PMID:
28712854
39.

Worldwide view of nephropathic cystinosis: results from a survey from 30 countries.

Bertholet-Thomas A, Berthiller J, Tasic V, Kassai B, Otukesh H, Greco M, Ehrich J, de Paula Bernardes R, Deschênes G, Hulton SA, Fischbach M, Soulami K, Saeed B, Valavi E, Cobenas CJ, Hacihamdioglu B, Weiler G, Cochat P, Bacchetta J.

BMC Nephrol. 2017 Jul 3;18(1):210. doi: 10.1186/s12882-017-0633-3.

40.

Transmission of Induced Chromosomal Aberrations through Successive Mitotic Divisions in Human Lymphocytes after In Vitro and In Vivo Radiation.

Kaddour A, Colicchio B, Buron D, El Maalouf E, Laplagne E, Borie C, Ricoul M, Lenain A, Hempel WM, Morat L, Al Jawhari M, Cuceu C, Heidingsfelder L, Jeandidier E, Deschênes G, Dieterlen A, El May M, Girinsky T, Bennaceur-Griscelli A, Carde P, Sabatier L, M'kacher R.

Sci Rep. 2017 Jun 12;7(1):3291. doi: 10.1038/s41598-017-03198-7.

41.

Cinacalcet in hyperparathyroidism management after pediatric renal transplantation.

Niel O, Maisin A, Macher MA, Peuchmaur M, Deschênes G.

CEN Case Rep. 2016 Nov;5(2):141-143. doi: 10.1007/s13730-015-0211-0. Epub 2016 Jan 22.

42.

Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

Seys E, Andrini O, Keck M, Mansour-Hendili L, Courand PY, Simian C, Deschenes G, Kwon T, Bertholet-Thomas A, Bobrie G, Borde JS, Bourdat-Michel G, Decramer S, Cailliez M, Krug P, Cozette P, Delbet JD, Dubourg L, Chaveau D, Fila M, Jourde-Chiche N, Knebelmann B, Lavocat MP, Lemoine S, Djeddi D, Llanas B, Louillet F, Merieau E, Mileva M, Mota-Vieira L, Mousson C, Nobili F, Novo R, Roussey-Kesler G, Vrillon I, Walsh SB, Teulon J, Blanchard A, Vargas-Poussou R.

J Am Soc Nephrol. 2017 Aug;28(8):2540-2552. doi: 10.1681/ASN.2016101057. Epub 2017 Apr 5.

43.

Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone.

Rachid M, Dreux S, Pean de Ponfilly G, Vargas-Poussou R, Czerkiewicz I, Chevenne D, Oury JF, Deschênes G, Muller F.

Ann Biol Clin (Paris). 2017 Apr 1;75(2):204-208. doi: 10.1684/abc.2017.1229.

PMID:
28377333
44.

Antenatal nephromegaly and propionic acidemia: a case report.

Bernheim S, Deschênes G, Schiff M, Cussenot I, Niel O.

BMC Nephrol. 2017 Mar 30;18(1):110. doi: 10.1186/s12882-017-0535-4.

45.

Variability of diagnostic criteria and treatment of idiopathic nephrotic syndrome across European countries.

Deschênes G, Vivarelli M, Peruzzi L; ESPN Working Group on Idiopathic Nephrotic Syndrome.

Eur J Pediatr. 2017 May;176(5):647-654. doi: 10.1007/s00431-017-2891-2. Epub 2017 Mar 16.

PMID:
28303389
46.

Clinical outcomes in children with Henoch-Schönlein purpura nephritis without crescents.

Delbet JD, Hogan J, Aoun B, Stoica I, Salomon R, Decramer S, Brocheriou I, Deschênes G, Ulinski T.

Pediatr Nephrol. 2017 Jul;32(7):1193-1199. doi: 10.1007/s00467-017-3604-9. Epub 2017 Feb 15.

PMID:
28204946
47.

Anti-Factor B and Anti-C3b Autoantibodies in C3 Glomerulopathy and Ig-Associated Membranoproliferative GN.

Marinozzi MC, Roumenina LT, Chauvet S, Hertig A, Bertrand D, Olagne J, Frimat M, Ulinski T, Deschênes G, Burtey S, Delahousse M, Moulin B, Legendre C, Frémeaux-Bacchi V, Le Quintrec M.

J Am Soc Nephrol. 2017 May;28(5):1603-1613. doi: 10.1681/ASN.2016030343. Epub 2017 Jan 17.

48.

A randomised Phase I/II trial to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria.

Hoppe B, Niaudet P, Salomon R, Harambat J, Hulton SA, Van't Hoff W, Moochhala SH, Deschênes G, Lindner E, Sjögren A, Cochat P.

Pediatr Nephrol. 2017 May;32(5):781-790. doi: 10.1007/s00467-016-3553-8. Epub 2016 Dec 6.

PMID:
27924398
49.

French law: what about a reasoned reimbursement of serum vitamin D assays?

Souberbielle JC, Benhamou CL, Cortet B, Rousière M, Roux C, Abitbol V, Annweiler C, Audran M, Bacchetta J, Bataille P, Beauchet O, Bardet R, Benachi A, Berenbaum F, Blain H, Borson-Chazot F, Breuil V, Briot K, Brunet P, Carel JC, Caron P, Chabre O, Chanson P, Chapurlat R, Cochat P, Coutant R, Christin-Maitre S, Cohen-Solal M, Combe C, Cormier C, Courbebaisse M, Debrus G, Delemer B, Deschenes G, Duquenne M, Duval G, Fardellone P, Fouque D, Friedlander G, Gauvain JB, Groussin L, Guggenbuhl P, Houillier P, Hannedouche T, Jacot W, Javier RM, Jean G, Jeandel C, Joly D, Kamenicky P, Knebelmann B, Lafage-Proust MH, LeBouc Y, Legrand E, Levy-Weil F, Linglart A, Machet L, Maheu E, Mallet E, Marcelli C, Marès P, Mariat C, Maruani G, Maugars Y, Montagnon F, Moulin B, Orcel P, Partouche H, Personne V, Pierrot-Deseilligny C, Polak M, Pouteil-Noble C, Prié D, Raynaud-Simon A, Rolland Y, Sadoul JL, Salle B, Sault C, Schott AM, Sermet-Gaudelus I, Soubrier M, Tack I, Thervet E, Tostivint I, Touraine P, Tremollières F, Urena-Torres P, Viard JP, Wemeau JL, Weryha G, Winer N, Young J, Thomas T.

Geriatr Psychol Neuropsychiatr Vieil. 2016 Dec 1;14(4):377-382. Review.

PMID:
27818369
50.

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Morimoto M, Myung C, Beirnes K, Choi K, Asakura Y, Bokenkamp A, Bonneau D, Brugnara M, Charrow J, Colin E, Davis A, Deschenes G, Gentile M, Giordano M, Gormley AK, Govender R, Joseph M, Keller K, Lerut E, Levtchenko E, Massella L, Mayfield C, Najafian B, Parham D, Spranger J, Stenzel P, Yis U, Yu Z, Zonana J, Hendson G, Boerkoel CF.

Orphanet J Rare Dis. 2016 Nov 5;11(1):149.

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