المؤلفون: Pirttiniemi, P, Poikela, A, Huggare, J, Lopponen, T

المصدر: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. 41(6):651-654

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:110648302

المؤلفون: Gaston-Massuet, C, McCabe, MJ, Scagliotti, V, Young, RM, Carreno, G, Gregory, LC, Jayakody, SA, Pozzi, S, Gualtieri, A, Basu, B, Koniordou, M, Wu, CI, Bancalari, RE, Rahikkala, E, Veijola, R, Lopponen, T, Graziola, F, Turton, J, Signore, M, Mousavy Gharavy, SN, Charolidi, N, Sokol, SY, Andoniadou, CL, Wilson, SW, Merrill, BJ, Dattani, MT, Martinez-Barbera, JP

المصدر: Proceedings of the National Academy of Sciences of the U S A (2016)

مصطلحات موضوعية: Tcf7l1, WNT pathway, hypopituitarism, pituitary, septooptic dysplasia

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1474008/1/accepted%20version.pdf; https://discovery.ucl.ac.uk/id/eprint/1474008/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1474008/1/accepted%20version.pdf
https://discovery.ucl.ac.uk/id/eprint/1474008/

المؤلفون: Sarantaus, L, Huusko, P, Eerola, H, Launonen, V, Vehmanen, P, Rapakko, K, Gillanders, E, Syrjakoski, K, Kainu, T, Vahteristo, P, Krahe, R, Paakkonen, K, Hartikainen, J, Blomqvist, C, Lopponen, T, Holli, K, Ryynanen, M, Butzow, R, Borg, A, Arver, BW, Holmberg, E, Mannermaa, A, Kere, J, Kallioniemi, OP, Winqvist, R, Nevanlinna, H

المصدر: European journal of human genetics : EJHG. 8(10):757-763

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1934306

المؤلفون: Hanein, S, Perrault, I, Gerber, S, Tanguy, G, Barbet, F, Ducroq, D, Calvas, P, Dollfus, H, Hamel, C, Lopponen, T, Munier, F, Santos, L, Shalev, S, Zafeiriou, D, Dufier, JL, Munnich, A, Rozet, JM, Kaplan, J

مصطلحات موضوعية: Blindness/congenital, Blindness/genetics, Carrier Proteins, DNA Mutational Analysis, Eye Proteins/genetics, Genetic Linkage, Genotype, Membrane Proteins/genetics, Molecular Diagnostic Techniques, Nerve Tissue Proteins/genetics, Mutation, Phenotype, Infant, Newborn, HDE GEN

Relation: Hum Mutat. 2004 Apr;23(4):306-17; http://hdl.handle.net/10400.17/2439

الاتاحة: http://hdl.handle.net/10400.17/2439
https://doi.org/10.1002/humu.20010

المؤلفون: Lopponen, T, Saukkonen, AL, Serlo, W, Tapanainen, P, Ruokonen, A, Lanning, P, Knip, M

المصدر: European Journal of Endocrinology ; page 170-175 ; ISSN 0804-4643 1479-683X

مصطلحات موضوعية: Endocrinology, General Medicine, Endocrinology, Diabetes and Metabolism

الاتاحة: http://dx.doi.org/10.1530/eje.0.1380170
https://eje.bioscientifica.com/view/journals/eje/138/2/170.xml

المؤلفون: Lopponen, T., Saukkonen, A.-L., Serlo, W., Tapanainen, P., Ruokonen, A., Knip, M.

المصدر: Archives of Disease in Childhood ; volume 77, issue 1, page 32-37 ; ISSN 0003-9888 1468-2044

الاتاحة: http://dx.doi.org/10.1136/adc.77.1.32
https://syndication.highwire.org/content/doi/10.1136/adc.77.1.32

المؤلفون: Lopponen, T, Saukkonen, A L, Serlo, W, Tapanainen, P, Ruokonen, A, Knip, M

المصدر: Archives of Disease in Childhood ; volume 74, issue 6, page 490-496 ; ISSN 0003-9888 1468-2044

الاتاحة: http://dx.doi.org/10.1136/adc.74.6.490
https://syndication.highwire.org/content/doi/10.1136/adc.74.6.490

المؤلفون: Paakko, E, Lopponen, T, Saukkonen, A L, Pyhtinen, J, Laitinen, J, Serlo, W, Knip, M

المصدر: Archives of Disease in Childhood ; volume 70, issue 6, page 530-5 ; ISSN 0003-9888 1468-2044

الاتاحة: http://dx.doi.org/10.1136/adc.70.6.530
https://syndication.highwire.org/content/doi/10.1136/adc.70.6.530

المؤلفون: Uusimaa, J., Moilanen, J.S., Vainionpaa, L., Tapanainen, P., Lindholm, P., Nuutinen, M., Lopponen, T., Maki-Torkko, E., Rantala, H., Majamaa, K.

المصدر: Annals of Neurology. 62(3):278-287

مصطلحات موضوعية: NATURAL SCIENCES, NATURVETENSKAP

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-48789

المؤلفون: Lopponen, T, Vaisanen, ML, Luotonen, M, Allinen, M, Uusimaa, J, Lindholm, P, Mäki-Torkko, Elina, Vayrynen, M, Lopponen, H, Leisti, J

المصدر: Laryngoscope. 113(10):1758-1763

مصطلحات موضوعية: M34T, (GJB2), sensorineural hearing impairment, gap junction protein beta-2 gene, 35delG, connexin 26 (Cx26), Medicin och hälsovetenskap, Klinisk medicin, Oto-rhino-laryngologi, Medical and Health Sciences, Clinical Medicine, Otorhinolaryngology

URL الوصول: https://lup.lub.lu.se/record/298303

المؤلفون: Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller Malesinska M, Pollak A, Ploski R, Orzan E, Castorina P, Ambrosetti U, Nowakowska Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Lina Granade G, Pallares Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G., MURGIA, ALESSANDRA, MARTINI, ALESSANDRO

المساهمون: Snoeckx, Rl, Huygen, Pl, Feldmann, D, Marlin, S, Denoyelle, F, Waligora, J, Mueller Malesinska, M, Pollak, A, Ploski, R, Murgia, Alessandra, Orzan, E, Castorina, P, Ambrosetti, U, Nowakowska Szyrwinska, E, Bal, J, Wiszniewski, W, Janecke, Ar, Nekahm Heis, D, Seeman, P, Bendova, O, Kenna, Ma, Frangulov, A, Rehm, Hl, Tekin, M, Incesulu, A, Dahl, Hh, du Sart, D, Jenkins, L, Lucas, D, Bitner Glindzicz, M, Avraham, Kb, Brownstein, Z, del Castillo, I, Moreno, F, Blin, N, Pfister, M, Sziklai, I, Toth, T, Kelley, Pm, Cohn, E, Van Maldergem, L, Hilbert, P, Roux, Af, Mondain, M, Hoefsloot, Lh, Cremers, Cw, Löppönen, T, Löppönen, H, Parving, A, Gronskov, K, Schrijver, I, Roberson, J, Gualandi, F, Martini, Alessandro, Lina Granade, G, Pallares Ruiz, N, Correia, C, Fialho, G, Cryns, K, Hilgert, N, Van de Heyning, P, Nishimura, Cj, Smith, Rj, Van Camp, G.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/16380907; info:eu-repo/semantics/altIdentifier/wos/WOS:000233241200005; volume:77; firstpage:945; lastpage:957; numberofpages:13; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/1424715; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-28144444402

الاتاحة: http://hdl.handle.net/11577/1424715

المؤلفون: SNOECKX R.L., HUYGEN P., FELDMAN D., MARLIN S., DENOYELLE F., WALIGORA J., MUELER MALESINSKA M., P.O.L.L.A.K. A., PLOSKI R., MURGIA A., ORZAN E., CASTORINA P., AMBROSETTI U., NOWAKOWSKA E., BAL J., WISZNIEWSKI W., JENECKE A.R., NEKAHM HEIS D., SEEMAN P., BENDOVA O., KENNA M.A., FRANGULOVA, REHM H.L., TEKIN M., INCESULU A., DAHL H.M., DU SART D., JENKINS L., LUCAS D., BITNER M., AVRAHAM K.B., BROWNSTEIN Z., DEL CASTILO I., MORENO F., BLIN N., PFISTER M., SZIKLAI I., TOTH T., KELLEY P., COHN E., VAN MELGERDEM L., HILBERT P., ROUX A., MONDAIN M., HOESFLOT L., CREMERS C., LOPPONEN T., LOPPONEN H., PAVING A., GRONSKOV K., SCHRIJVER I., ROBERSON J., GUALANDI F., LINA GRANADE G., PALLARES RUIZ N., CORREIA C., FIALHO G., CRYNS K., HILGERT N., VEN DE HEINING P., NISHIMURA C., SMITH R., VAN CAMP G., MARTINI, Alessandro

المساهمون: Snoeckx, R. L., Huygen, P., Feldman, D., Marlin, S., Denoyelle, F., Waligora, J., MUELER MALESINSKA, M., P. O. L. L. A. K., A., Ploski, R., Murgia, A., Orzan, E., Castorina, P., Ambrosetti, U., Nowakowska, E., Bal, J., Wiszniewski, W., Jenecke, A. R., NEKAHM HEIS, D., Seeman, P., Bendova, O., Kenna, M. A., Frangulova, Rehm, H. L., Tekin, M., Incesulu, A., Dahl, H. M., DU SART, D., Jenkins, L., Lucas, D., Bitner, M., Avraham, K. B., Brownstein, Z., DEL CASTILO, I., Moreno, F., Blin, N., Pfister, M., Sziklai, I., Toth, T., Kelley, P., Cohn, E., VAN MELGERDEM, L., Hilbert, P., Roux, A., Mondain, M., Hoesflot, L., Cremers, C., Lopponen, T., Lopponen, H., Paving, A., Gronskov, K., Schrijver, I., Roberson, J., Gualandi, F., Martini, Alessandro, LINA GRANADE, G., PALLARES RUIZ, N., Correia, C., Fialho, G., Cryns, K., Hilgert, N., VEN DE HEINING, P., Nishimura, C., Smith, R., VAN CAMP, G.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000233241200005; volume:77; issue:6; firstpage:945; lastpage:957; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11392/1205859; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-28144444402

الاتاحة: http://hdl.handle.net/11392/1205859
https://doi.org/10.1086/497996

المؤلفون: Evila, A., Vihola, A., Sarparanta, J., Raheem, O., Sandell, S., Eymard, B., Illa, I., Rojas-Garcia, R., Hankiewicz, K., Negrao, L., Lopponen, T., Nokelainen, P., Karppa, M., Penttila, S., Screen, M., Suominen, T., Richard, I., Hackman, P., Udd, B.

المصدر: Neuromuscular Disorders ; volume 23, issue 9-10, page 758-759 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2013.06.436
https://api.elsevier.com/content/article/PII:S096089661300610X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S096089661300610X?httpAccept=text/plain

المؤلفون: Puistola, U. S., Lopponen, T., Winqvist, R., Ignatius, J., Poyhonen, M.

المصدر: International Journal of Gynecologic Cancer ; volume 16, issue Suppl 3, page 799.2-799 ; ISSN 1048-891X 1525-1438

الاتاحة: http://dx.doi.org/10.1136/ijgc-00009577-200610001-00710
https://syndication.highwire.org/content/doi/10.1136/ijgc-00009577-200610001-00710

المؤلفون: Snoeckx, R.L., Huygen, P.L.M., Feldmann, D., Marlin, S., Denoyelle, F., Waligora, J., Mueller-Malesinska, M., Pollak, A., Ploski, R., Murgia, A., Orzan, E., Castorina, P., Ambrosetti, U., Nowakowska-Szyrwinska, E., Bal, J., Wiszniewski, W., Janecke, A.R., Nekahm-Heis, D., Seeman, P., Bendova, O., Kenna, M.A., Frangulov, A., Rehm, H.L., Tekin, M., Incesulu, A., Dahl, H.H., Sart, D. du, Jenkins, L., Lucas, D., Bitner-Glindzicz, M., Avraham, K.B., Brownstein, Z., Castillo, I. del, Moreno, F., Blin, N., Pfister, M., Sziklai, I., Toth, T., Kelley, P.M., Cohn, E.S., Maldergem, L. van, Hilbert, P., Roux, A.F., Mondain, M., Hoefsloot, L.H., Cremers, C.W.R.J., Lopponen, T., Lopponen, H., Parving, A., Gronskov, K., Schrijver, I., Roberson, J., Gualandi, F., Martini, A., Lina-Granade, G., Pallares-Ruiz, N., Correia, C., Fialho, G., Cryns, K., Hilgert, N., Heyning, P. van de, Nishimura, C.J., Smith, R.J.H., Camp, G. van

المصدر: American Journal of Human Genetics; 945; 57; 0002-9297; 6; 77; ~American Journal of Human Genetics~945~57~~~0002-9297~6~77~~

URL: http://hdl.handle.net/2066/47828
https://doi.org/10.1086/497996

المؤلفون: Morris, C, Drake, M, Hagman, A, Lopponen, T, Bjorkstrand, B, Gahrton, G, Apperley, J

المصدر: BONE MARROW TRANSPLANTATION. 31:S80-S81

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:19130426

المؤلفون: Lopponen, T., Paakko, E., Laitinen, J., Saukkonen, A.L., Serlo, W., Tapanainen, P., Ruokonen, A., Pirttiniemi, P., Poikela, A., Knip, M.

المصدر: Clinical Endocrinology; June 1997, Vol. 46 Issue: 6 p691-699, 9p