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Year Number of Results
1997 1
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2001 13
2002 7
2003 7
2004 10
2005 6
2006 3
2007 5
2008 4
2009 3
2010 6
2011 6
2012 1
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2014 7
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2019 10
2020 10
2021 20
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2023 22
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236 results

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Page 1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al Saud BK, Kurdi W, Makhseed N, Alqasim T, El Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S… See abstract for full author list ➔ Monies D, et al. Among authors: broering d. Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9. Hum Genet. 2017. PMID: 28600779 Free PMC article.
Genotype correlates with the natural history of severe bile salt export pump deficiency.
van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly DA, Nebbia G, Arnell H, Björn Fischler, Hulscher JBF, Serranti D, Arikan C, Polat E, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Calvo PL, Grabhorn E, Sturm E, van der Woerd WJ, Kamath BM, Wang JS, Li L, Durmaz Ö, Onal Z, Bunt TMG, Hansen BE, Verkade HJ; NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) consortium. van Wessel DBE, et al. Among authors: broering d. J Hepatol. 2020 Jul;73(1):84-93. doi: 10.1016/j.jhep.2020.02.007. Epub 2020 Feb 20. J Hepatol. 2020. PMID: 32087350
Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Luigi Calvo P, Krebs-Schmitt D, Hartleif S, van der Woerd WL, Wang JS, Li LT, Durmaz Ö, Kerkar N, Hørby Jørgensen M, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Targa Ferreira C, Ordonez F, Wang H, Sency V, Mo Kim K, Chen HL, Carvalho E, Fabre A, Quintero Bernabeu J, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Rao GS, Horslen S, Kamath BM, Rogalidou M, Karnsakul WW, Hansen B, Verkade HJ; Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium. van Wessel DBE, et al. Among authors: broering d. Hepatology. 2021 Aug;74(2):892-906. doi: 10.1002/hep.31787. Epub 2021 Jul 13. Hepatology. 2021. PMID: 33666275 Free PMC article.
Post Living Donor Liver Transplantation Small-for-size Syndrome: Definitions, Timelines, Biochemical, and Clinical Factors for Diagnosis: Guidelines From the ILTS-iLDLT-LTSI Consensus Conference.
Kow AWC, Liu J, Patel MS, De Martin E, Reddy MS, Soejima Y, Syn N, Watt K, Xia Q, Saraf N, Kamel R, Nasralla D, McKenna G, Srinvasan P, Elsabbagh AM, Pamecha V, Palaniappan K, Mas V, Tokat Y, Asthana S, Cherukuru R, Egawa H, Lerut J, Broering D, Berenguer M, Cattral M, Clavien PA, Chen CL, Shah S, Zhu ZJ, Emond J, Ascher N, Rammohan A, Bhangui P, Rela M, Kim DS, Ikegami T; ILTS-iLDLT-LTSI SFSS Working Group. Kow AWC, et al. Among authors: broering d. Transplantation. 2023 Oct 1;107(10):2226-2237. doi: 10.1097/TP.0000000000004770. Epub 2023 Sep 25. Transplantation. 2023. PMID: 37749812
Incidence, management and outcomes in hepatic artery complications after paediatric liver transplantation: protocol of the retrospective, international, multicentre HEPATIC Registry.
Li W, van der Doef HPJ, Wildhaber BE, Marra P, Bravi M, Pinelli D, Minetto J, Dip M, Sierre S, de Santibañes M, Ardiles V, Uno JW, Hardikar W, Bates S, Goh L, Aldrian D, Seisenbacher J, Vogel GF, Neto JS, Antunes da Fonseca E, Magalhães Costa C, Ferreira CT, Nader LS, Farina MA, Dajani KZ, Parente A, Bigam DL, Liang TB, Bai X, Zhang W, Gonsorčíková L, Froněk J, Bohuš Š, Franchi-Abella S, Gonzales E, Guérin F, Junge N, Baumann U, Richter N, Hartleif S, Sturm E, Rajakannu M, Palaniappan K, Rela M, Pawaria A, Rajakrishnan H, Surendran S, Kumar M, Agarwal S, Gupta S, Asthana S, Bandewar V, Raichurkar K, Spada M, Monti L, Alterio T, Yanagi Y, Uchida H, Komine R, Evans H, Carr-Boyd P, Duncan D, Stefanowicz M, Latka-Grot J, Kolesnik A, Broering DC, Raptis DA, Ann H Marquez K, Mali V, Aw M, Beretta M, Van der Schyff F, Quintero-Bernabeu J, Mercadal-Hally M, Larrarte K M, Andres AM, Hernandez-Oliveros F, Frauca E, Casswall T, Jorns C, Delle M, Gupte G, Sharif K, McGuirk S, Superina R, Caicedo JC, Jaramillo C, Bitterfeld L, Kastenberg Z, Shah AA, Domenick B, Acord MR, Mazariegos GV, Soltys K, DiNorcia J, Antala S, Florman SS, Buchholz BM, Herden U, Fischer L, Dierckx RAJO, Hartog H, … See abstract for full author list ➔ Li W, et al. Among authors: broering dc. BMJ Open. 2024 Jun 12;14(6):e081933. doi: 10.1136/bmjopen-2023-081933. BMJ Open. 2024. PMID: 38866577 Free PMC article.
Novel Benchmark for Robotic Liver Resection - Bridging Tradition with Innovation.
Li Z, Pfister M, Raptis DA, Ma Y, Yang G, Li L, Song X, Millet G, Truant S, Venezia R, Jeddou H, Le Floch B, Valverde A, Peru N, Pessaux P, Codiglione FG, Mabrut JY, Mohkam K, Cunha AS, Salloum C, Blanc PY, Roy BL, Goumard C, Scatton O, Tzedakis S, Fuks D, Chaoui I, Rammohan A, da Silva SG, Sobral MSN, Lopez-Lopez V, Centonze L, Zhu Z, Ratti F, Marino R, Rompianesi G, Dong Y, Shah J, Müller PC, Wakabayashi T, Coelho FF, Castillo-Flores S, Lee B, Viti V, Kato Y, Boggi U, Han HS, Polanco P, Goh BKP, Cheung TT, Efanov M, Panaro F, Machado M, Herman P, Wakabayashi G, Ielpo B, Müller BP, Mejia A, Starlinger P, Martinie J, Troisi RI, Aldrighetti L, Chen G, Robles-Campos R, Choi GH, Liu R, Di Benedetto F, Marques HP, Sucandy I, Rela M, D'Hondt M, Brustia R, Soubrane O, Broering DC, Clavien PA. Li Z, et al. Among authors: broering dc. Ann Surg. 2025 May 20. doi: 10.1097/SLA.0000000000006759. Online ahead of print. Ann Surg. 2025. PMID: 40391433
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
Felzen A, van Wessel DBE, Gonzales E, Thompson RJ, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Polat E, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Calvo PL, Grabhorn E, Hartleif S, van der Woerd WJ, Kamath BM, Wang JS, Li L, Durmaz Ö, Kerkar N, Jørgensen MH, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Ferreira CT, Guerrero FO, Wang H, Sency V, Kim KM, Chen HL, de Carvalho E, Fabre A, Bernabeu JQ, Zellos A, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Horslen S, Schwarz K, Bezerra JA, Wang K, Hansen BE, Verkade HJ; NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) Consortium. Felzen A, et al. Among authors: broering d. JHEP Rep. 2022 Nov 16;5(2):100626. doi: 10.1016/j.jhepr.2022.100626. eCollection 2023 Feb. JHEP Rep. 2022. PMID: 36687469 Free PMC article.
236 results