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Page 1
Initial combination versus early sequential standard therapies for Infantile Epileptic Spasms Syndrome-Feedback from stakeholders.
Ramani PK, Briscoe Abath C, Donatelli S, Hadjinicolaou A, Vega Toro S, Acevedo K, Astorga KR, Parbhoo K, Singh A, Catenaccio E, Jain P, Sahu JK, Samanta D, Harini C. Ramani PK, et al. Among authors: parbhoo k. Epilepsia Open. 2024 Apr;9(2):819-822. doi: 10.1002/epi4.12895. Epub 2024 Jan 13. Epilepsia Open. 2024. PMID: 38217384 Free PMC article. No abstract available.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Among authors: parbhoo k. Genet Med. 2023 Feb;25(2):100004. doi: 10.1016/j.gim.2022.100004. Genet Med. 2023. PMID: 36745127 Free PMC article. No abstract available.
Disseminated Human Subarachnoid Coenurosis.
Labuschagne J, Frean J, Parbhoo K, Mutyaba D, Pillay T, Boughan S, Nkala H. Labuschagne J, et al. Among authors: parbhoo k. Trop Med Infect Dis. 2022 Nov 29;7(12):405. doi: 10.3390/tropicalmed7120405. Trop Med Infect Dis. 2022. PMID: 36548661 Free PMC article.
Prenatal Genetic Testing and Screening: A Focused Review.
Caceres V, Murray T, Myers C, Parbhoo K. Caceres V, et al. Among authors: parbhoo k. Semin Pediatr Neurol. 2022 Jul;42:100976. doi: 10.1016/j.spen.2022.100976. Epub 2022 Apr 30. Semin Pediatr Neurol. 2022. PMID: 35868736 Review.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Among authors: parbhoo k. Genet Med. 2022 Aug;24(8):1753-1760. doi: 10.1016/j.gim.2022.04.010. Epub 2022 May 18. Genet Med. 2022. PMID: 35579625 Free PMC article.
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
van der Sluijs PJ, Alders M, Dingemans AJM, Parbhoo K, van Bon BW, Dempsey JC, Doherty D, den Dunnen JT, Gerkes EH, Milller IM, Moortgat S, Regier DS, Ruivenkamp CAL, Schmalz B, Smol T, Stuurman KE, Vincent-Delorme C, de Vries BBA, Sadikovic B, Hickey SE, Rosenfeld JA, Maystadt I, Santen GWE. van der Sluijs PJ, et al. Among authors: parbhoo k. Genes (Basel). 2021 Aug 20;12(8):1275. doi: 10.3390/genes12081275. Genes (Basel). 2021. PMID: 34440449 Free PMC article.
Bone mass and vertebral fractures in South African children on prolonged oral glucocorticoids for chronic non-malignant illnesses.
Thandrayen K, Kala UK, Lala N, Okudo G, Parbhoo KB, Moosa FY, Verwey C, Hauptfleisch M, Hajinicolaou C, Ambaram PR, Mistry BJ, Petersen KL, Pettifor JM. Thandrayen K, et al. Among authors: parbhoo kb. Bone Rep. 2021 Feb 2;14:100751. doi: 10.1016/j.bonr.2021.100751. eCollection 2021 Jun. Bone Rep. 2021. PMID: 33644265 Free PMC article.
RANBP9 affects cancer cells response to genotoxic stress and its overexpression is associated with worse response to platinum in NSCLC patients.
Tessari A, Parbhoo K, Pawlikowski M, Fassan M, Rulli E, Foray C, Fabbri A, Embrione V, Ganzinelli M, Capece M, Campbell MJ, Broggini M, La Perle K, Farina G, Cole S, Marabese M, Hernandez M, Amann JM, Pruneri G, Carbone DP, Garassino MC, Croce CM, Palmieri D, Coppola V. Tessari A, et al. Among authors: parbhoo k. Oncogene. 2018 Dec;37(50):6463-6476. doi: 10.1038/s41388-018-0424-8. Epub 2018 Aug 3. Oncogene. 2018. PMID: 30076413 Free PMC article.
15 results