المؤلفون: Zellos, A, Debray, D, Indolfi, G, Czubkowski, P, Samyn, M, Hadzic, N, Gupte, G, Fischler, B, Smets, F, de Clety, SC, Grenda, R, Mozer, Y, Mancell, S, Jahnel, J, Auzinger, G, Worth, A, Lisman, T, Staufner, C, Baumann, U, Dhawan, A, Alonso, E, Squires, RH, Verkade, HJ

المصدر: Journal of pediatric gastroenterology and nutrition. 74(3):338-347

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:148979571

المؤلفون: Zellos, A, Debray, D, Indolfi, G, Czubkowski, P, Samyn, M, Hadzic, N, Gupte, G, Fischler, B, Smets, F, de Clety, SC, Grenda, R, Mozer, Y, Mancell, S, Jahnel, J, Auzinger, G, Worth, A, Lisman, T, Staufner, C, Baumann, U, Dhawan, A, Alonso, E, Squires, RH, Verkade, HJ

المصدر: Journal of pediatric gastroenterology and nutrition. 74(3):E45-E56

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:148948676

المؤلفون: Maas, RR, Iwanicka-Pronicka, K, Ucar, SK, Alhaddad, B, AlSayed, M, Al-Owain, MA, Al-Zaidan, HI, Balasubramaniam, S, Baric, I, Bubshait, DK, Burlina, A, Christodoulou, J, Chung, WK, Colombo, R, Darin, N, Freisinger, P, Silva, MTG, Grunewald, S, Haack, TB, van Hasselt, PM, Hikmat, O, Horster, F, Isohanni, P, Ramzan, K, Kovacs-Nagy, R, Krumina, Z, Martin-Hernandez, E, Mayr, JA, McClean, P, De Meirleir, L, Naess, K, Ngu, LH, Pajdowska, M, Rahman, S, Riordan, G, Riley, L, Roeben, B, Rutsch, F, Santer, R, Schiff, M, Seders, M, Sequeira, S, Sperl, W, Staufner, C, Synofzik, M, Taylor, RW, Trubicka, J, Tsiakas, K, Unal, O, Wassmer, E, Wedatilake, Y, Wolff, T, Prokisch, H, Morava, E, Pronicka, E, Wevers, RA, de Brouwer, AP, Wortmann, SB

المصدر: Annals of neurology. 82(6):1004-1015

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:137244001

المؤلفون: Baric, I, Staufner, C, Augoustides-Savvopoulou, P, Chien, YH, Dobbelaere, D, Grunert, SC, Opladen, T, Ramadza, DP, Rakic, B, Wedell, A, Blom, HJ

المصدر: Journal of inherited metabolic disease. 40(1):5-20

مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Endokrinologi och diabetes, Naturvetenskap, Biologi (Medicinska tillämpningar under 3 och lantbruksvetenskapliga under 4), Biokemi och molekylärbiologi

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:134880552

المؤلفون: Hammann, N., Lenz, D., Baric, I., Crushell, E., Vici, C.D., Distelmaier, F., Feillet, F., Freisinger, P., Hempel, M., Khoreva, A.L., Laass, M.W., Lacassie, Y., Lainka, E., Larson-Nath, C., Li, Z., Lipiński, P., Lurz, E., Mégarbané, A., Nobre, S., Olivieri, G., Peters, B., Prontera, P., Schlieben, L.D., Seroogy, C.M., Sobacchi, C., Suzuki, S., Tran, C., Vockley, J., Wang, J.S., Wagner, M., Prokisch, H., Garbade, S.F., Kölker, S., Hoffmann, G.F., Staufner, C.

المصدر: Molecular genetics and metabolism, vol. 141, no. 3, pp. 108118

مصطلحات موضوعية: Humans, Phenotype, Pelger-Huet Anomaly/complications, Pelger-Huet Anomaly/genetics, Pelger-Huet Anomaly/pathology, Liver Failure, Acute/genetics, Mutation, Missense, Neuroblastoma/complications, Genotype-phenotype correlation, ILFS2, NBAS, Recurrent acute liver failure, SOPH

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/38244286; info:eu-repo/semantics/altIdentifier/eissn/1096-7206; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_C34190170CCC7; https://serval.unil.ch/notice/serval:BIB_C34190170CCC; https://serval.unil.ch/resource/serval:BIB_C34190170CCC.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_C34190170CCC
https://doi.org/10.1016/j.ymgme.2023.108118
https://serval.unil.ch/resource/serval:BIB_C34190170CCC.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C34190170CCC7

المؤلفون: Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schroter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Muller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rotig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang J-S, Weghuber D, Wortmann S

المصدر: Genetics in Medicine, 2022

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/287630; https://eprints.ncl.ac.uk/fulltext.aspx?url=287630/7E762CC3-7D5E-4030-91E6-BEF452582F45.pdf&pub_id=287630

الاتاحة: https://eprints.ncl.ac.uk/287630

المؤلفون: Yepez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Haberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Muller MF, Munoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rotig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H

المصدر: Genome Medicine, December 2022

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/281451; https://eprints.ncl.ac.uk/fulltext.aspx?url=281451/E0F4E944-FA3B-40CE-AB99-721F4558D1AE.pdf&pub_id=281451

الاتاحة: https://eprints.ncl.ac.uk/281451

المؤلفون: Yepez V. A., Gusic M., Kopajtich R., Mertes C., Smith N. H., Alston C. L., Ban R., Beblo S., Berutti R., Blessing H., Ciara E., Distelmaier F., Freisinger P., Haberle J., Hayflick S. J., Hempel M., Itkis Y. S., Kishita Y., Klopstock T., Krylova T. D., Lamperti C., Lenz D., Makowski C., Mosegaard S., Muller M. F., Munoz-Pujol G., Nadel A., Ohtake A., Okazaki Y., Procopio E., Schwarzmayr T., Smet J., Staufner C., Stenton S. L., Strom T. M., Terrile C., Tort F., Van Coster R., Vanlander A., Wagner M., Xu M., Fang F., Ghezzi D., Mayr J. A., Piekutowska-Abramczuk D., Ribes A., Rotig A., Taylor R. W., Wortmann S. B., Murayama K., Meitinger T., Gagneur J., Prokisch H.

المساهمون: V.A. Yepez, M. Gusic, R. Kopajtich, C. Merte, N.H. Smith, C.L. Alston, R. Ban, S. Beblo, R. Berutti, H. Blessing, E. Ciara, F. Distelmaier, P. Freisinger, J. Haberle, S.J. Hayflick, M. Hempel, Y.S. Itki, Y. Kishita, T. Klopstock, T.D. Krylova, C. Lamperti, D. Lenz, C. Makowski, S. Mosegaard, M.F. Muller, G. Munoz-Pujol, A. Nadel, A. Ohtake, Y. Okazaki, E. Procopio, T. Schwarzmayr, J. Smet, C. Staufner, S.L. Stenton, T.M. Strom, C. Terrile, F. Tort, R. Van Coster, A. Vanlander, M. Wagner, M. Xu, F. Fang, D. Ghezzi, J.A. Mayr, D. Piekutowska-Abramczuk, A. Ribe, A. Rotig, R.W. Taylor, S.B. Wortmann, K. Murayama, T. Meitinger, J. Gagneur, H. Prokisch

مصطلحات موضوعية: Genetic diagnostic, Mendelian disease, RNA-seq, Allele, Human, Sequence Analysis, RNA, Whole Exome Sequencing, Transcriptome, Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

Relation: info:eu-repo/semantics/altIdentifier/pmid/35379322; info:eu-repo/semantics/altIdentifier/wos/WOS:000778002100001; volume:14; issue:1; firstpage:1; lastpage:26; numberofpages:26; journal:GENOME MEDICINE; https://hdl.handle.net/2434/926220; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127470335

الاتاحة: https://hdl.handle.net/2434/926220
https://doi.org/10.1186/s13073-022-01019-9

المؤلفون: Lenz D, Schlieben LD, Shimura M, Bianzano A, Smirnov D, Kopajtich R, Berutti R, Adam R, Aldrian D, Baric I, Baumann U, Bozbulut NE, Brugger M, Brunet T, Bufler P, Burnyte B, Calvo PL, Crushell E, Dalgic B, Das AM, Dezsofi A, Distelmaier F, Fichtner A, Freisinger P, Garbade SF, Gaspar H, Goujon L, Hadzic N, Hartleif S, Hegen B, Hempel M, Henning S, Hoerning A, Houwen R, Hughes J, Iorio R, Iwanicka-Pronicka K, Jankofsky M, Junge N, Kanavaki I, Kansu A, Kaspar S, Kathemann S, Kelly D, Kirsaclioglu CT, Knoppke B, Kohl M, Kolbel H, Kolker S, Konstantopoulou V, Krylova T, Kuloglu Z, Kuster A, Laass MW, Lainka E, Lurz E, Mandel H, Mayerhanser K, Mayr JA, McKiernan P, McClean P, McLin V, Mention K, Muller H, Pasquier L, Pavlov M, Pechatnikova N, Peters B, Petkovic Ramadza D, Piekutowska-Abramczuk D, Pilic D, Rajwal S, Rock N, Roetig A, Santer R, Schenk W, Semenova N, Sokollik C, Sturm E, Taylor RW, Tschiedel E, Urbonas V, Urreizti R, Vermehren J, Vockley J, Vogel G-F, Wagner M, Van Der Woerd W, Wortmann SB, Zakharova E, Hoffmann GF, Meitinger T, Murayama K, Staufner C, Prokisch H

المصدر: Hepatology, May 2024

Relation: https://eprints.ncl.ac.uk/298135

الاتاحة: https://eprints.ncl.ac.uk/298135

المؤلفون: Brunet T, Zott B, Lieftuchter V, Lenz D, Schmidt A, Peters P, Kopajtich R, Zaddach M, Zimmermann H, Huning I, Ballhausen D, Staufner C, Bianzano A, Hughes J, Taylor RW, McFarland R, Devlin A, Mihaljevic M, Barisic N, Rohlfs M, Wilfling S, Sondheimer N, Hewson S, Marinakis NM, Kosma K, Traeger-Synodinos J, Elbracht M, Begemann M, Trepels-Kottek S, Hasan D, Scala M, Capra V, Zara F, van der Ven AT, Driemeyer J, Apitz C, Kramer J, Strong A, Hakonarson H, Watson D, Mayr JA, Prokisch H, Meitinger T, Borggraefe I, Spiegler J, Baric I, Paolini M, Gerstl L, Wagner M

المصدر: Genetics in Medicine, February 2024

Relation: https://eprints.ncl.ac.uk/295926

الاتاحة: https://eprints.ncl.ac.uk/295926

المؤلفون: Peters, B., Dattner, T., Schlieben, L.D., Sun, T., Staufner, C., Lenz, D.

المصدر: J. Inherit. Metab. Dis., DOI:10.1002/jimd.12707 (2024)

مصطلحات موضوعية: Calfan, Ilfs2, Ilfs3, Nbas, Rint1, Scyl1, Disorders Of Vesicular Trafficking, Pediatric Acute Liver Failure, Recurrent Acute Liver Failure

Relation: info:eu-repo/semantics/altIdentifier/pmid/38279772; info:eu-repo/semantics/altIdentifier/wos/001151792500001; info:eu-repo/semantics/altIdentifier/isbn/0141-8955; info:eu-repo/semantics/altIdentifi

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=69852
https://doi.org/10.1002/jimd.12707

المؤلفون: Brunet, T., Zott, B., Lieftüchter, V., Lenz, D., Schmidt, A., Peters, P., Kopajtich, R., Zaddach, M., Zimmermann, H., Hüning, I., Ballhausen, D., Staufner, C., Bianzano, A., Hughes, J., Taylor, R.W., McFarland, R., Devlin, A., Mihaljević, M., Barišić, N., Rohlfs, M., Wilfling, S., Sondheimer, N., Hewson, S., Marinakis, N.M., Kosma, K., Traeger-Synodinos, J., Elbracht, M., Begemann, M., Trepels-Kottek, S., Hasan, D., Scala, M., Capra, V., Zara, F., van der Ven, A.T., Driemeyer, J., Apitz, C., Krämer, J., Strong, A., Hakonarson, H., Watson, D., Mayr, J.A., Prokisch, H., Meitinger, T., Borggraefe, I., Spiegler, J., Baric, I., Paolini, M., Gerstl, L., Wagner, M.

المصدر: Genetics in medicine, vol. 26, no. 2, pp. 101013

مصطلحات موضوعية: Humans, Child, Moyamoya Disease/genetics, Leigh Disease/complications, Transcription Factors/genetics, Ubiquitin-Protein Ligases/genetics, Stroke, Zinc, Genetic Predisposition to Disease, Adenosine Triphosphatases/genetics, RNF213, exome sequencing, leigh syndrome, moyamoya

Relation: info:eu-repo/semantics/altIdentifier/pmid/37924258; info:eu-repo/semantics/altIdentifier/eissn/1530-0366; https://serval.unil.ch/notice/serval:BIB_B19DE60BFB37

الاتاحة: https://serval.unil.ch/notice/serval:BIB_B19DE60BFB37
https://doi.org/10.1016/j.gim.2023.101013

المؤلفون: Lenz, D., Pahl, J., Hauck, F., Alameer, S., Balasubramanian, M., Baric, I., Boy, N., Church, J.A., Crushell, E., Dick, A., Distelmaier, F., Gujar, J., Indolfi, G., Lurz, E., Peters, B., Schwerd, T., Serranti, D., Kölker, S., Klein, C., Hoffmann, G.F., Prokisch, H., Greil, J., Cerwenka, A., Giese, T., Staufner, C.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/177468/7/Lenz2021_Article_NBASVariantsAreAssociatedWithQ.pdf; Lenz, D., Pahl, J., Hauck, F. et al. (22 more authors) (2021) NBAS variants are associated with quantitative and qualitative NK and B cell deficiency. Journal of Clinical Immunology, 41 (8). pp. 1781-1793. ISSN 0271-9142

الاتاحة: https://eprints.whiterose.ac.uk/177468/
https://eprints.whiterose.ac.uk/177468/7/Lenz2021_Article_NBASVariantsAreAssociatedWithQ.pdf

المؤلفون: Zech M., Jech R., Boesch S., ¿korvánek M., Weber S., Wagner M., Zhao C., Jochim A., Necpál J., Dincer Y., Vill K., Distelmaier F., Stoklosa M., Krenn M., Grunwald S., Bock-Bierbaum T., Fecíková A., Havránková P., Roth J., Príhodová I., Adamovicová M., Ulmanová O., Bechyne K., Danhofer P., Veselý B., Han V., Pavelekova P., Gdovinová Z., Mantel T., Meindl T., Sitzberger A., Schröder S., Blaschek A., Roser T., Bonfert M.V., Haberlandt E., Plecko B., Leineweber B., Berweck S., Herberhold T., Langguth B., ¿vantnerová J., Minár M., Ramos-Rivera G.A., Wojcik M.H., Pajusalu S., Õunap K., Schatz U.A., Pölsler L., Milenkovic I., Laccone F., Pilshofer V., Colombo R., Patzer S., Iuso A., Vera J., Troncoso M., Fang F., Prokisch H., Wilbert F., Eckenweiler M., Graf E., Westphal D.S., Riedhammer K.M., Brunet T., Alhaddad B., Berutti R., Strom T.M., Hecht M., Baumann M., Wolf M., Telegrafi A., Person R.E., Zamora F.M., Henderson L.B., Weise D., Musacchio T., Volkmann J., Szuto A., Becker J., Cremer K., Sycha T., Zimprich F., Kraus V., Makowski C., Gonzalez-Alegre P., Bardakjian T.M., Ozelius L.J., Vetro A., Guerrini R., Maier E., Borggraefe I., Kuster A., Wortmann S.B., Hackenberg A., Steinfeld R., Assmann B., Staufner C., Opladen T., Ru¿icka E., Cohn R.D., Dyment D., Chung W.K., Engels H., Ceballos-Baumann A., Ploski R., Daumke O., Haslinger B., Mall V., Oexle K., Winkelmann J.

المصدر: The Lancet Neurology

وصف الملف: application/pdf

Relation: https://repositorio.uchile.cl/handle/2250/190324

الاتاحة: https://doi.org/10.1016/S1474-4422(20)30312-4
https://repositorio.uchile.cl/handle/2250/190324

المؤلفون: Lenz, D., Stahl, M., Seidl, E., Schöndorf, D., Brennenstuhl, H., Gesenhues, F., Heinzmann, T., Longerich, T., Mendes, M.I., Prokisch, H., Salomons, G.S., Schön, C., Smith, D.E.C., Sommerburg, O., Wagner, M., Westhoff, J.H., Reiter, K., Staufner, C., Griese, M.

المصدر: Pediatr. Pulmonol. 55, 3057-3066 (2020)

مصطلحات موضوعية: Interstitial Lung And Liver Disease, Mars1, Methionine, Pulmonary Alveolar Proteinosis, Whole Lung Lavage

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/32833345; info:eu-repo/semantics/altIdentifier/wos/WOS:000566577400001; info:eu-repo/semantics/altIdentifier/isbn/1099-0496; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59940; urn:isbn:1099-0496; urn:issn:8755-6863; urn:issn:1099-0496

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59940
https://doi.org/10.1002/ppul.25031

المؤلفون: Lenz, D., Smith, D.E.C., Crushell, E., Husain, R.A., Salomons, G.S., Alhaddad, B., Bernstein, J.A., Bianzano, A., Biskup, S., Brennenstuhl, H., Caldari, D., Dikow, N., Haack, T.B., Hanson-Kahn, A., Harting, I., Horn, D., Hughes, J., Huijberts, M., Isidor, B., Kathemann, S., Kopajtich, R., Kotzaeridou, U., Küry, S., Lainka, E., Laugwitz, L., Lupski, J.R., Posey, J.E., Reynolds, C., Rosenfeld, J.A., Schröter, J., Vansenne, F., Wagner, M., Weiß, C., Wolffenbuttel, B.H.R., Wortmann, S.B., Kölker, S., Hoffmann, G.F., Prokisch, H., Mendes, M.I., Staufner, C.

المصدر: Genet. Med. 22, 1863-1873 (2020)

مصطلحات موضوعية: Lars1, Infantile Liver Failure Syndrome Type 1, Acute Liver Failure, Aminoacyl-trna Synthetase Deficiency, Metabolic Stroke

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/32699352; info:eu-repo/semantics/altIdentifier/wos/WOS:000551406500001; info:eu-repo/semantics/altIdentifier/isbn/1098-3600; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59757; urn:isbn:1098-3600; urn:issn:1530-0366; urn:issn:1098-3600

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59757
https://doi.org/10.1038/s41436-020-0904-4

المؤلفون: Staufner, C., Peters, B., Wagner, M., Alameer, S., Barić, I., Broué, P., Bulut, D., Church, J.A., Crushell, E., Dalgıç, B., Das, A.M., Dick, A., Dikow, N., Dionisi-Vici, C., Distelmaier, F., Bozbulut, N.E., Feillet, F., Gonzales, E., Hadzic, N., Hauck, F., Hegarty, R., Hempel, M., Herget, T., Klein, C., Konstantopoulou, V., Kopajtich, R., Kuster, A., Laass, M.W., Lainka, E., Larson-Nath, C., Leibner, A., Lurz, E., Mayr, J.A., McKiernan, P.J., Mention, K., Moog, U., Mungan, N.O., Riedhammer, K.M., Santer, R., Palafoll, I.V., Vockley, J., Westphal, D.S., Wiedemann, A., Wortmann, S.B., Diwan, G.D., Russell, R.B., Prokisch, H., Garbade, S.F., Kölker, S., Hoffmann, G.F., Lenz, D.

المصدر: Genet. Med. 22, 610-621 (2020)

مصطلحات موضوعية: Nbas, Infantile Liver Failure Syndrome Type 2, Soph Syndrome, Acute Liver Failure, Ralf

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/31761904; info:eu-repo/semantics/altIdentifier/wos/WOS:000518171700018; info:eu-repo/semantics/altIdentifier/isbn/1098-3600; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57419; urn:isbn:1098-3600; urn:issn:1530-0366; urn:issn:1098-3600

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57419
https://doi.org/10.1038/s41436-019-0698-4

المؤلفون: Kovacevic, A., Kölker, S., Hoffmann, G.F., Gorenflo, M., Garbade, S.F., Staufner, C.

المصدر: The Thoracic and Cardiovascular Surgeon ; 50th Annual Meeting of the German Society for Pediatric Cardiology (DGPK) ; ISSN 1439-1902

الاتاحة: http://dx.doi.org/10.1055/s-0038-1628313
http://www.thieme-connect.de/products/ejournals/html/10.1055/s-0038-1628313

المؤلفون: Vogel, G.F., Mozer-Glassberg, Y., Landau, Y.E., Schlieben, L.D., Prokisch, H., Feichtinger, R.G., Mayr, J.A., Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F.S., Baker, J.J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A.M., Darin, N., Marina, A. Della, Distelmaier, F., Eklund, E.A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R.D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M.G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, Heidi, Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R.W., Thorburn, D.R., Teles, E.L., Wang, J.S., Weghuber, D., Wortmann, S.B.

المصدر: Genetics in Medicine; 1098-3600; 6; 25; 100314; ~Genetics in Medicine~~~~~1098-3600~6~25~~100314

URL: https://repository.ubn.ru.nl/handle/2066/293495

المؤلفون: Lenz, D., Hørby Jørgensen, M., Kelly, D., Cardinale, V., Geerts, A., Gonçalves Costa, I., Fichtner, A., Garbade, S.F., Hegen, B., Hilberath, J., Kleine, R. de, Kupčinskas, L., McLin, V., Niesert, M., Prado Gonzalez, V., Sturm, E., Staufner, C., Tjwa, E.T., Willemse, J., Zecher, B.F., Larsen, F.S., Sebode, M., Ytting, H.

المصدر: Journal of Pediatric Gastroenterology and Nutrition; 115; 120; 0277-2116; 1; 77; ~Journal of Pediatric Gastroenterology and Nutrition~115~120~~~0277-2116~1~77~~

URL: https://repository.ubn.ru.nl/handle/2066/293875