المؤلفون: Hansen, Bettina, Valcheva, Velichka, Yu, Qifeng, Wessel, Daan van, Thompson, Richard, Gonzalès, Emmanuel, Jankowska, Irena, Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Kumar, Kishwer, Alkuraya, Fowzan, Sateesh, Meddirevula, Broering, Dieter Clemens, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Serranti, Daniele, Arıkan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Gonçalves, Cristina, Llanillo, Loreto Hierro, Bartolo, Gema Muñoz, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, Woerd, Wendy L. van der, Kamath, Binita M., Wang, Jian-She, Liting, Li, Durmaz, Ozlem, Önal, Zerrin, Felzen, Antonia, Nomden, Mark, Sonajalg, Jaak, Stein, Philip, Ni, Quanhong, Verkade, Henkjan

المصدر: Hansen , B , Valcheva , V , Yu , Q , Wessel , D V , Thompson , R , Gonzalès , E , Jankowska , I , Sokal , E , Grammatikopoulos , T , Kadaristiana , A , Jacquemin , E , Spraul , A , Lipiński , P , Czubkowski , P , Rock , N , Shagrani , M , Kumar , K , Alkuraya , F , Sateesh , M , Broering , D C , Nicastro , E , Kelly , D , Nebbia , G , Arnell , H , Fischler ....

وصف الملف: application/pdf

Relation: https://research.rug.nl/en/publications/619e44bb-e7eb-4820-8f82-a9a3e79fb9d1

الاتاحة: https://hdl.handle.net/11370/619e44bb-e7eb-4820-8f82-a9a3e79fb9d1
https://research.rug.nl/en/publications/619e44bb-e7eb-4820-8f82-a9a3e79fb9d1
https://doi.org/10.1016/s0168-8278(23)03022-2
https://pure.rug.nl/ws/files/762940328/1-s2.0-S0168827823030222-main.pdf

المؤلفون: Felzen, Antonia, van Wessel, Daan B.E., Gonzales, Emmanuel, Thompson, Richard J., Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, LipiÅ„ski, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, DezsÅ‘fi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Hartleif, Steffen, van der Woerd, Wendy J., Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Özlem, Kerkar, Nanda, Jørgensen, Marianne Hørby, Fischer, Ryan, Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noemie, Ferreira, Cristina Targa, Guerrero, Felipe Ordoñez, Wang, Heng, Sency, Valerie, Kim, Kyung Mo, Chen, Huey-Ling, de Carvalho, Elisa, Fabre, Alexandre, Bernabeu, Jesus Quintero, Zellos, Aglaia, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick J., Rosenthal, Philip, Turmelle, Yumirle, Horslen, Simon, Schwarz, Kathleen, Bezerra, Jorge A., Wang, Kasper, Hansen, Bettina E., Verkade, Henkjan J.

المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique

المصدر: JHEP Reports, Vol. 5, no.2, p. 100626 (2023)

مصطلحات موضوعية: Gastroenterology, Hepatology, Immunology and Allergy, Internal Medicine

Relation: boreal:272522; http://hdl.handle.net/2078.1/272522; urn:ISSN:2589-5559

الاتاحة: http://hdl.handle.net/2078.1/272522
https://doi.org/10.1016/j.jhepr.2022.100626

المؤلفون: Gardin, Antoine, Ruiz, Mathias, Beime, Jan, Cananzi, Mara, Rathert, Margarete, Rohmer, Barbara, Grabhorn, Enke, Almes, Marion, Logarajah, Veena, Peña-Quintana, Luis, Casswall, Thomas, Darmellah-Remil, Amaria, Reyes-Domínguez, Ana, Barkaoui, Emna, Hierro, Loreto, Baquero-Montoya, Carolina, Baumann, Ulrich, Fischler, Björn, Gonzales, Emmanuel, Davit-Spraul, Anne, Laplanche, Sophie, Jacquemin, Emmanuel

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-023-02984-z
https://link.springer.com/content/pdf/10.1186/s13023-023-02984-z.pdf
https://link.springer.com/article/10.1186/s13023-023-02984-z/fulltext.html

المؤلفون: Loos, Sebastian, Kemper, Markus J., Schmaeschke, Kaja, Herden, Uta, Fischer, Lutz, Hoppe, Bernd, Levart, Tanja Kersnik, Grabhorn, Enke, Schild, Raphael, Oh, Jun, Brinkert, Florian

المصدر: Frontiers in Pediatrics ; volume 11 ; ISSN 2296-2360

الاتاحة: http://dx.doi.org/10.3389/fped.2023.1157215
https://www.frontiersin.org/articles/10.3389/fped.2023.1157215/full

المؤلفون: Stindt, Jan, Dröge, Carola, Lainka, Elke, Kathemann, Simone, Pfister, Eva-Doreen, Baumann, Ulrich, Stalke, Amelie, Grabhorn, Enke, Shagrani, Mohammad Ali, Mozer-Glassberg, Yael, Hartley, Jane, Wammers, Marianne, Klindt, Caroline, Philippski, Paulina, Liebe, Roman, Herebian, Diran, Mayatepek, Ertan, Berg, Thomas, Schmidt-Choudhury, Anjona, Wiek, Constanze, Hanenberg, Helmut, Luedde, Tom, Keitel, Verena

المساهمون: Bundesministerium für Bildung und Forschung

المصدر: JHEP Reports ; volume 5, issue 7, page 100690 ; ISSN 2589-5559

الاتاحة: http://dx.doi.org/10.1016/j.jhepr.2023.100690
https://api.elsevier.com/content/article/PII:S2589555923000216?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2589555923000216?httpAccept=text/plain

المؤلفون: Devane, John, Ott, Elisabeth, Olinger, Eric, Epting, Daniel, Decker, Eva, Friedrich, Anja, Bachmann, Nadine, Renschler, Gina, Eisenberger, Tobias, Briem-Richter, Andrea, Grabhorn, Enke Freya, Powell, Laura, Wilson, Ian J, Rice, Sarah J, Miles, Colin G, Wood, Katrina, Genomics England Research Consortium, Trivedi, Palak, Hirschfield, Gideon, Pietrobattista, Andrea, Wohler, Elizabeth, Mezina, Anya, Sobreira, Nara, Agolini, Emanuele, Maggiore, Giuseppe, Dahmer-Heath, Mareike, Yilmaz, Ali, Boerries, Melanie, Metzger, Patrick, Schell, Christoph, Grünewald, Inga, Konrad, Martin, König, Jens, Schlevogt, Bernhard, Sayer, John A, Bergmann, Carsten

المساهمون: UCL - (SLuc) Centre de génétique médicale UCL

المصدر: American journal of human genetics, Vol. 109, no.5, p. 928-943 (2022)

مصطلحات موضوعية: Adult, Animals, Cardiomyopathy, Hypertrophic, Child, Cilia, Fibrosis, Humans, Intracellular Signaling Peptides and Proteins, Kidney, Liver, Mutation, Zebrafish, ciliopathy, genetic disease burden, hypertrophic cardiomyopathy, internal medicine genetics, kidney failure, liver fibrosis, organ fibrosis, tubby-like proteins

Relation: boreal:291824; http://hdl.handle.net/2078.1/291824; info:pmid/35397207

الاتاحة: http://hdl.handle.net/2078.1/291824
https://doi.org/10.1016/j.ajhg.2022.03.015

المؤلفون: Baumann, Ulrich, Karam, Vincent, Adam, René, Fondevila, Constantino, Dhawan, Anil, Sokal, Etienne, Jacquemin, Emmanuel, Kelly, Deirdre A., Grabhorn, Enke, Pawlowska, Joanna, D’Antiga, Lorenzo, Jara Vega, Paloma, Debray, Dominique, Polak, Wojciech G., de Ville de Goyet, Jean, Verkade, Henkjan J., European Liver and Intestine Transplant Association (ELITA) and all ELTR contributing centers

المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique

المصدر: Pediatrics, Vol. 150, no. 4, p. e2022057424 [1-11] (2022)

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

Relation: boreal:265130; http://hdl.handle.net/2078.1/265130; info:pmid/; urn:ISSN:0031-4005; urn:EISSN:1098-4275

الاتاحة: http://hdl.handle.net/2078.1/265130
https://doi.org/10.1542/peds.2022-057424

المؤلفون: Herrmann, Jochen, Petit, Philippe, Grabhorn, Enke, Lenz, Alexander, Jürgens, Julian, Franchi-Albella, Stéphanie

المصدر: Pediatric Radiology ; volume 53, issue 4, page 714-726 ; ISSN 1432-1998

الاتاحة: http://dx.doi.org/10.1007/s00247-022-05480-x
https://link.springer.com/content/pdf/10.1007/s00247-022-05480-x.pdf
https://link.springer.com/article/10.1007/s00247-022-05480-x/fulltext.html

المؤلفون: Kröncke, Sylvia, Lund, Louisa Katharina, Buchholz, Angela, Lang, Melanie, Briem‐Richter, Andrea, Grabhorn, Enke Freya, Sterneck, Martina

المصدر: Pediatric Transplantation ; volume 25, issue 8 ; ISSN 1397-3142 1399-3046

الاتاحة: http://dx.doi.org/10.1111/petr.14121
https://onlinelibrary.wiley.com/doi/pdf/10.1111/petr.14121
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/petr.14121

المؤلفون: Schröder, Hanna, Junge, Norman, Herden, Uta, Deutschmann, Andrea, Weidemann, Sören Alexander, Krebs‐Schmitt, Dorothee, Grabhorn, Enke Freya

المصدر: Clinical Transplantation ; volume 35, issue 4 ; ISSN 0902-0063 1399-0012

الاتاحة: http://dx.doi.org/10.1111/ctr.14219
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ctr.14219
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/ctr.14219

المؤلفون: Sultani, Bejan, Marget, Matthias, Briem‐Richter, Andrea, Herrmann, Jochen, Meisner, Sebastian, Grabhorn, Enke Freya, Ozga, Ann‐Kathrin, Weidemann, Sören, Herden, Uta, Fischer, Lutz, Sterneck, Martina

المصدر: Clinical Transplantation ; volume 35, issue 7 ; ISSN 0902-0063 1399-0012

الاتاحة: http://dx.doi.org/10.1111/ctr.14336
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ctr.14336
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/ctr.14336

المؤلفون: Özen, Julia, Beime, Jan, Brinkert, Florian, Fischer, Lutz, Herden, Uta, Grabhorn, Enke

المصدر: Transplant International ; volume 34, issue 7, page 1251-1260 ; ISSN 0934-0874 1432-2277

الاتاحة: http://dx.doi.org/10.1111/tri.13872
https://onlinelibrary.wiley.com/doi/pdf/10.1111/tri.13872
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/tri.13872

المؤلفون: Wessel, Daan van, Thompson, Richard, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jankowska, Irena, LipiÅ„ski, Patryk, Czubkowski, Piotr, Gonzales, Emmanuel, Jacquemin, Emmanuel, Spraul, Anne, Sokal, Etienne, Shagrani, Mohammad Ali, Broering, Dieter Clemens, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, JBF, Serranti, Daniele, Arıkan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Gonçalves, Cristina, Hierro, Loreto, Bartolo, Gema Muñoz, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, DezsÅ‘fi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, Woerd, Wendy van der, Kamath, Binita M., Wang, Jian-She, Liting, Li, Durmaz, Ozlem, Hansen, Bettina, Verkade, Henkjan, The International Liver Congress (EASL)

المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique

المصدر: Journal of Hepatology. Supplement, Vol. 70, no.1, p. e121 (2019)

مصطلحات موضوعية: Hepatology

Relation: boreal:224397; http://hdl.handle.net/2078.1/224397; urn:ISSN:0169-5185

الاتاحة: http://hdl.handle.net/2078.1/224397
https://doi.org/10.1016/s0618-8278(19)30213-0

المؤلفون: Hansen, Bettina, Valcheva, Velichka, Yu, Qifeng, Wessel, Daan BE van, Thompson, Richard J, Gonzales, Emmanuel, Jankowska, Irena, Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Kumar, Kishwer, Alkuraya, Fowzan, Sateesh, Meddirevula, Broering, Dieter, Nicastro, Emanuele, Kelly, Deirdre A, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Bartolo, Gema Muñoz, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsundefinedfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, Woerd, Wendy L van der, Kamath, Binita M, Wang, Jian-She, Li, Liting, Durmaz, Özlem, Onal, Zerrin, Felzen, Antonia, Nomden, Mark, Sonajalg, Jaak, Stein, Philip

المصدر: Poster presentations ; page A13.1-A13

الاتاحة: http://dx.doi.org/10.1136/gutjnl-2023-basl.17
https://syndication.highwire.org/content/doi/10.1136/gutjnl-2023-BASL.17

المؤلفون: van Wessel, Daan B.E., Thompson, Richard J., Gonzales, Emmanuel, Jankowska, Irena, Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, LipiÅ„ski, Patryk, Czubkowski, Piotr, ROCK, Nathalie, Shagrani, Mohammad, Broering, Dieter, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Bjo¨rn, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, DezsÅ‘fi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, van der Woerd, Wendy J., Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Özlem, Onal, Zerrin, Bunt, Ton MG., Hansen, Bettina, Verkade, Henkjan J.

المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique

المصدر: Journal of Hepatology, Vol. 73, no. 1, p. 84-93 (2020)

مصطلحات موضوعية: Hepatology

Relation: boreal:227777; http://hdl.handle.net/2078.1/227777; info:pmid/; urn:ISSN:0168-8278; urn:EISSN:1600-0641

الاتاحة: http://hdl.handle.net/2078.1/227777
https://doi.org/10.1016/j.jhep.2020.02.007

المؤلفون: van Wessel, Daan B E, Thompson, Richard J, Gonzales, Emmanuel, Jankowska, Irena, Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre A, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B F, Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, van der Woerd, Wendy J, Kamath, Binita M, Wang, Jian-She, Li, Liting, Durmaz, Özlem, Onal, Zerrin, Bunt, Ton M G, Hansen, Bettina E, Verkade, Henkjan J, NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) consortium

المصدر: ISSN: 0168-8278 ; Journal of hepatology, vol. 73, no. 1 (2020) p. 84-93.

مصطلحات موضوعية: info:eu-repo/classification/ddc/618, ABCB11, Natural history, PFIC2, Severe BSEP deficiency, Surgical biliary diversion

Relation: info:eu-repo/semantics/altIdentifier/pmid/32087350; https://archive-ouverte.unige.ch/unige:159484; unige:159484

الاتاحة: https://archive-ouverte.unige.ch/unige:159484

المؤلفون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Felzen, Antonia, van Wessel, Daan B.E., Gonzales, Emmanuel, Thompson, Richard J., Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Hartleif, Steffen, van der Woerd, Wendy J., Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Özlem, Kerkar, Nanda, Jørgensen, Marianne Hørby, Fischer, Ryan, Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noemie, Ferreira, Cristina Targa, Guerrero, Felipe Ordoñez, Wang, Heng, Sency, Valerie, Kim, Kyung Mo, Chen, Huey-Ling, de Carvalho, Elisa, Fabre, Alexandre, Bernabeu, Jesus Quintero, Zellos, Aglaia, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick J., Rosenthal, Philip, Turmelle, Yumirle, Horslen, Simon, Schwarz, Kathleen, Bezerra, Jorge A., Wang, Kasper, Hansen, Bettina E., Verkade, Henkjan J.

المصدر: JHEP Reports, Vol. 5, no.2, p. 100626 (2023)

مصطلحات الفهرس: Gastroenterology, Hepatology, Immunology and Allergy, Internal Medicine, info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078.1/272522

المؤلفون: Arıkan, Çiğdem (ORCID 0000-0002-0794-2741 & YÖK ID 240198), Felzen, Antonia; van Wessel, Daan B.E.; Gonzales, Emmanuel; Thompson, Richard J.; Jankowska, Irena; Shneider, Benjamin L.; Sokal, Etienne; Grammatikopoulos, Tassos; Kadaristiana, Agustina; Jacquemin, Emmanuel; Spraul, Anne; Lipi?ski, Patryk; Czubkowski, Piotr; Rock, Nathalie; Shagrani, Mohammad; Broering, Dieter; Nicastro, Emanuele; Kelly, Deirdre; Nebbia, Gabriella; Arnell, Henrik; Fischler, Björn; Hulscher, Jan B.F.; Serranti, Daniele; Polat, Esra; Debray, Dominique; Lacaille, Florence; Goncalves, Cristina; Hierro, Loreto; Muñoz Bartolo, Gema; Mozer-Glassberg, Yael; Azaz, Amer; Brecelj, Jernej; Dezs?fi, Antal; Calvo, Pier Luigi; Grabhorn, Enke; Hartleif, Steffen; van der Woerd, Wendy J.; Kamath, Binita M.; Wang, Jian-She; Li, Liting; Durmaz, Özlem; Kerkar, Nanda; Jørgensen, Marianne Hørby; Fischer, Ryan; Jimenez-Rivera, Carolina; Alam, Seema; Cananzi, Mara; Laverdure, Noemie; Ferreira, Cristina Targa; Guerrero, Felipe Ordoñez; Wang, Heng; Sency, Valerie; Kim, Kyung Mo; Chen, Huey-Ling; de Carvalho, Elisa; Fabre, Alexandre; Bernabeu, Jesus Quintero; Zellos, Aglaia; Alonso, Estella M.; Sokol, Ronald J.; Suchy, Frederick J.; Loomes, Kathleen M.; McKiernan, Patrick J.; Rosenthal, Philip; Turmelle, Yumirle; Horslen, Simon; Schwarz, Kathleen; Bezerra, Jorge A.; Wang, Kasper; Hansen, Bettina E.; Verkade, Henkjan J., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine

المصدر: JHEP Reports

مصطلحات الفهرس: Gastroenterology and hepatology, BSEP; Compound heterozygosity; Genotype; Interruption of the enterohepatic circulation; PFIC2; Phenotype, Journal article, text/academic publication

URL: http://libdigitalcollections.ku.edu.tr/cdm/ref/collection/IR/id/11158
http://worldcat.org/oclc/1429869350/viewonline
Publisher version
Koç University Institutional Repository

المؤلفون: Gardin, Antoine, Ruiz, Mathias, Beime, Jan, Cananzi, Mara, Rathert, Margarete, Rohmer, Barbara, Grabhorn, Enke, Almes, Marion, Logarajah, Veena, Peña-Quintana, Luis, Casswall, Thomas, Darmellah-Remil, Amaria, Reyes-Domínguez, Ana, Barkaoui, Emna, Hierro, Loreto, Baquero-Montoya, Carolina, Baumann, Ulrich, Fischler, Björn, Gonzales, Emmanuel, Davit-Spraul, Anne

المصدر: Orphanet Journal of Rare Diseases; 12/7/2023, Vol. 18 Issue 1, p1-9, 9p

مصطلحات موضوعية: CHOLIC acid, URSODEOXYCHOLIC acid, BLOOD coagulation factor XIII, LIVER biopsy, BILE acids, LIVER failure

المؤلفون: Krebs‐Schmitt, Dorothee, Briem‐Richter, Andrea, Brinkert, Florian, Keitel, Verena, Pukite, Ieva, Lenhartz, Henning, Fischer, Lutz, Grabhorn, Enke

المصدر: Journal of Pediatric Gastroenterology and Nutrition ; volume 68, issue 2, page 169-174 ; ISSN 0277-2116 1536-4801

الاتاحة: http://dx.doi.org/10.1097/mpg.0000000000002200
https://onlinelibrary.wiley.com/doi/pdf/10.1097/MPG.0000000000002200