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Page 1
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Bosch E, Popp B, Güse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, Renieri A, Bruno LP, Granata S, Marcelis C, Baysal Ö, Hartwich D, Holthöfer L, Isidor B, Cogne B, Wieczorek D, Capra V, Scala M, De Marco P, Ognibene M, Jamra RA, Platzer K, Carter LB, Kuismin O, van Haeringen A, Maroofian R, Valenzuela I, Cuscó I, Martinez-Agosto JA, Rabani AM, Mefford HC, Pereira EM, Close C, Anyane-Yeboa K, Wagner M, Hannibal MC, Zacher P, Thiffault I, Beunders G, Umair M, Bhola PT, McGinnis E, Millichap J, van de Kamp JM, Prijoles EJ, Dobson A, Shillington A, Graham BH, Garcia EJ, Galindo MK, Ropers FG, Nibbeling EAR, Hubbard G, Karimov C, Goj G, Bend R, Rath J, Morrow MM, Millan F, Salpietro V, Torella A, Nigro V, Kurki M, Stevenson RE, Santen GWE, Zweier M, Campeau PM, Severino M, Reis A, Accogli A, Vasileiou G. Bosch E, et al. Among authors: rath j. Genet Med. 2023 Nov;25(11):100950. doi: 10.1016/j.gim.2023.100950. Epub 2023 Aug 5. Genet Med. 2023. PMID: 37551667 Free article.
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.
Oliveira J, Gruber A, Cardoso M, Taipa R, Fineza I, Gonçalves A, Laner A, Winder TL, Schroeder J, Rath J, Oliveira ME, Vieira E, Sousa AP, Vieira JP, Lourenço T, Almendra L, Negrão L, Santos M, Melo-Pires M, Coelho T, den Dunnen JT, Santos R, Sousa M. Oliveira J, et al. Among authors: rath j. Hum Mutat. 2018 Oct;39(10):1314-1337. doi: 10.1002/humu.23599. Epub 2018 Aug 10. Hum Mutat. 2018. PMID: 30055037 Review.
Variations and Opportunities in Postnatal Management of Hemolytic Disease of the Fetus and Newborn.
de Winter DP, Verweij EJTJ, Debeer A, Devlieger R, Lewi L, Verbeeck S, Maurice P, Jouannic JM, Guillemin MG, Mailloux A, Pessoa Dos Santos MC, Amaral de Moura Sá Pacheco C, Lopes Moreira ME, Martins de Vasconcelos Vaena M, Bohlin K, Tiblad E, Thorup E, Petersen OB, Sanchez-Holgado M, Viejo Llorente A, Poljak B, Khalil A, Le Duc K, Ghesquiere L, Lozar Krivec J, Soltirovska-Šalamon A, Dame C, Blank JD, Hohnecker A, Saxonhouse M, Connors NK, Geipel A, Rath J, Prasad S, van Wyk L, Geerts L, Schuler R, Thon N, Leibovitch L, Cohen S, Canul-Euan AA, Kelly E, Raghuram K, Cavigioli F, Colombo SFG, Elanjikal Z, Brayley J, Pfurtscheller D, Pichler G, Alcázar Grisi ÁG, Chávez Navarro EJJ, Pereira-Nunes J, Soares H, Zhou M, Garcia Borau MJ, Moliner Calderón E, Galletti MF, Mariani GL, Mackin D, Malone F, Lampland A, Tse WT, Castleman J, van der Bom JG, de Haas M, Lopriore E; Worldwide Collaboration for Hemolytic Disease of the Fetus and Newborn (DIONYSUS) Investigators. de Winter DP, et al. Among authors: rath j. JAMA Netw Open. 2025 Jan 2;8(1):e2454330. doi: 10.1001/jamanetworkopen.2024.54330. JAMA Netw Open. 2025. PMID: 39792381
Transforming Hospital Housekeeping: The Kayakalp Journey.
Pillai JSK, Sahoo B, Sahoo MC, Behera B, Baby RS, George MV, Rath J, Sahoo C, Mohapatra A, Chhabra G, Behera BK, Singh AK, Patro BK, Jena AK. Pillai JSK, et al. Among authors: rath j. Glob J Qual Saf Healthc. 2024 Jul 22;7(4):207-215. doi: 10.36401/JQSH-23-54. eCollection 2024 Nov. Glob J Qual Saf Healthc. 2024. PMID: 39534235 Free PMC article.
Variations in antenatal management and outcomes in haemolytic disease of the fetus and newborn: an international, retrospective, observational cohort study.
de Winter DP, Lopriore E, Thorup E, Petersen OB, Dziegiel MH, Sundberg K, Devlieger R, de Catte L, Lewi L, Debeer A, Houfflin-Debarge V, Ghesquiere L, Garabedian C, Le Duc K, Antolin E, Mendez N, Castleman J, Tse WT, Jouannic JM, Maurice P, Currie J, Mullen E, Geerts L, Rademan K, Khalil A, Poljak B, Prasad S, Tiblad E, Bohlin K, Geipel A, Rath J, Malone F, Mackin D, Yinon Y, Cohen S, Ryan G, Vlachodimitropoulou E, Gloning KP, Verlohren S, Mayer B, Lanna M, Faiola S, Sršen TP, Cerar LK, Snowise S, Sun L, Otaño L, Meller CH, Connors NK, Saxonhouse M, Wolter A, Bedei I, Klaritsch P, Jauch S, da Silva Ribeiro ET, Filho FMP, Martinez-Portilla RJ, Matias A, Abad OA, Roca JP, Grisi ÁGA, Navarro EJJC, van der Bom JG, de Haas M, Verweij EJ; DIONYSUS investigators. de Winter DP, et al. Among authors: rath j. Lancet Haematol. 2024 Dec;11(12):e927-e937. doi: 10.1016/S2352-3026(24)00314-4. Epub 2024 Nov 8. Lancet Haematol. 2024. PMID: 39527958
293 results