المؤلفون: Richard, EM, Bakhtiari, S, Marsh, APL, Kaiyrzhanov, R, Wagner, M, Shetty, S, Pagnozzi, A, Nordlie, SM, Guida, BS, Cornejo, P, Magee, H, Liu, J, Norton, BY, Webster, R, Worgan, L, Hakonarson, H, Li, J, Guo, Y, Jain, M, Blesson, A, Rodan, LH, Abbott, M-A, Comi, A, Cohen, JS, Alhaddad, B, Meitinger, T, Lenz, D, Ziegler, A, Kotzaeridou, U, Brunet, T, Chassevent, A, Smith-Hicks, C, Ekstein, J, Weiden, T, Hahn, A, Zharkinbekova, N, Turnpenny, P, Tucci, A, Yelton, M, Horvath, R, Gungor, S, Hiz, S, Oktay, Y, Lochmuller, H, Zollino, M, Manuela, M, Marangi, G, Nigro, V, Torella, A, Pinelli, M, Amenta, S, Husain, RA, Grossmann, B, Rapp, M, Steen, C, Marquardt, I, Grimmel, M, Grasshoff, U, Korenke, GC, Owczarek-Lipska, M, Neidhardt, J, Radio, FC, Mancini, C, Sepulveda, DJC, Mc Walter, K, Begtrup, A, Crunk, A, Sacoto, MJG, Person, R, Schnur, RE, Mancardi, MM, Kreuder, F, Striano, P, Zara, F, Chung, WK, Marks, WA, van Eyk, CL, Webber, DL, Corbett, MA, Harper, K, Berry, JG, Mac Lennan, AH, Gecz, J, Tartaglia, M, Salpietro, V, Christodoulou, J, Kaslin, J, Padilla-Lopez, S, Bilguvar, K, Munchau, A, Ahmed, ZM, Hufnagel, RB, Fahey, MC, Maroofian, R, Houlden, H, Sticht, H, Mane, SM, LRad, A, Vona, B, Jin, SC, Haack, TB, Makowski, C, Hirsch, Y, Riazuddin, S, Kruer, MC

المصدر: American Journal of Human Genetics , 108 (10) pp. 2006-2016. (2021)

مصطلحات موضوعية: neurodevelopmental disorder, movement disorder, cerebral palsy, epilepsy, SPATA5L1, intellectual disability, AAA+ superfamily, ATPase, sensorineural hearing loss

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10139869/3/Kaiyrzhanov_AJHG-S-21-000408-SPATA5L1_Manuscript_R1%20FINAL_accepted%20version.pdf; https://discovery.ucl.ac.uk/id/eprint/10139869/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10139869/3/Kaiyrzhanov_AJHG-S-21-000408-SPATA5L1_Manuscript_R1%20FINAL_accepted%20version.pdf
https://discovery.ucl.ac.uk/id/eprint/10139869/

المؤلفون: van Markus, F, Angelini, C, Trimouille, A, Rudolf, G, Lesca, G, Goizet, C, Lasseaux, E, Arveiler, B, van Slegtenhorst, Marjon, Brooks, Alice, Abou Jamra, R, Korenke, GC, Neidhardt, J, Owczarek-Lipska, M

المصدر: van Markus , F , Angelini , C , Trimouille , A , Rudolf , G , Lesca , G , Goizet , C , Lasseaux , E , Arveiler , B , van Slegtenhorst , M , Brooks , A , Abou Jamra , R , Korenke , GC , Neidhardt , J & Owczarek-Lipska , M 2020 , ' Rare variants in the GABAA receptor subunit ? identified in patients with a wide spectrum of epileptic phenotypes ' , Molecular Genetics and Genomic Medicine , vol. 8 , no. 9 , e1388 . https://doi.org/10.1002/mgg3.1388

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/3375dbce-4513-4ff3-b4b8-6f9b1a5f6df3
https://doi.org/10.1002/mgg3.1388
https://pure.eur.nl/ws/files/48367396/Repub_130813_O-A.pdf
http://hdl.handle.net/1765/130813

المؤلفون: Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., Blesson, A., Rodan, L. H., Abbott, M. A., Comi, A., Cohen, J. S., Alhaddad, B., Meitinger, T., Lenz, D., Ziegler, A., Kotzaeridou, U., Brunet, T., Chassevent, A., Smith-Hicks, C., Ekstein, J., Weiden, T., Hahn, A., Zharkinbekova, N., Turnpenny, P., Tucci, A., Yelton, M., Horvath, R., Gungor, S., Hiz, S., Oktay, Y., Lochmuller, H., Zollino, M., Morleo, M., Marangi, G., Nigro, V., Torella, A., Pinelli, M., Amenta, S., Husain, R. A., Grossmann, B., Rapp, M., Steen, C., Marquardt, I., Grimmel, M., Grasshoff, U., Korenke, G. C., Owczarek-Lipska, M., Neidhardt, J., Radio, F. C., Mancini, C., Claps Sepulveda, D. J., McWalter, K., Begtrup, A., Crunk, A., Guillen Sacoto, M. J., Person, R., Schnur, R. E., Mancardi, M. M., Kreuder, F., Striano, P., Zara, F., Chung, W. K., Marks, W. A., van Eyk, C. L., Webber, D. L., Corbett, M. A., Harper, K., Berry, J. G., MacLennan, A. H., Gecz, J., Tartaglia, M., Salpietro, V., Christodoulou, J., Kaslin, J., Padilla-Lopez, S., Bilguvar, K., Munchau, A., Ahmed, Z. M., Hufnagel, R. B., Fahey, M. C., Maroofian, R., Houlden, H., Sticht, H., Mane, S. M., Rad, A., Vona, B., Jin, S. C., Haack, T. B., Makowski, C., Hirsch, Y., Riazuddin, S., Kruer, M. C.

مصطلحات موضوعية: ATPases Associated with Diverse Cellular Activities/genetics, Adolescent, Adult, Alleles, Animals, Cerebral Palsy/etiology/metabolism/*pathology, Child, Preschool, Epilepsy/etiology/metabolism/*pathology, Female, Genetic Predisposition to Disease, Genetic Variation, Hearing Loss/etiology/metabolism/*pathology, Humans, Infant, Newborn, Intellectual Disability/etiology/metabolism/*pathology, Male, Muscle Spasticity/etiology/metabolism/*pathology, Rats, Young Adult, AAA+ superfamily, ATPase, spata5l1, cerebral palsy, epilepsy, intellectual disability, movement disorder, neurodevelopmental disorder, sensorineural hearing loss

Relation: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(21)00302-5; Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi:10.1016/j.ajhg.2021.08.003.; https://rde.dspace-express.com/handle/11287/622267; American journal of human genetics; PMC8546233

الاتاحة: https://doi.org/10.1016/j.ajhg.2021.08.003
https://rde.dspace-express.com/handle/11287/622267

المؤلفون: Hytonen, MK, Arumilli, M, Lappalainen, AK, Owczarek-Lipska, M, Jagannathan, V, Hundi, S, Salmela, E, Venta, P, Sarkiala, E, Jokinen, T, Gorgas, D, Kere, J, Nieminen, P, Drogemuller, C, Lohi, H

المصدر: PLoS genetics. 12(5):e1006037

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:133726614

المؤلفون: Owczarek-Lipska, M., Dolf, G., Guziewicz, K. E., Leeb, T., Schelling, C., Posthaus, H., Braunschweig, M. H.

المصدر: eISSN: 2363-9822

وصف الملف: application/pdf

Relation: https://aab.copernicus.org/articles/52/113/2009/

الاتاحة: https://doi.org/10.5194/aab-52-113-2009
https://aab.copernicus.org/articles/52/113/2009/

المؤلفون: Reiff, C., Owczarek-Lipska, M., Spital, G., Röger, C., Hinz, H., Jüschke, C., Thiele, H., Altmüller, J., Nürnberg, P., Da Costa, R., Neidhardt, J.

مصطلحات موضوعية: Technology Platforms

وصف الملف: application/pdf; application/msword

Relation: http://edoc.mdc-berlin.de/20686/1/20686oa.pdf; http://edoc.mdc-berlin.de/20686/7/20686suppl.doc; The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family. Reiff, C. and Owczarek-Lipska, M. and Spital, G. and Röger, C. and Hinz, H. and Jüschke, C. and Thiele, H. and Altmüller, J. and Nürnberg, P. and Da Costa, R. and Neidhardt, J. Scientific Reports 6 : 36208. 4 November 2016

الاتاحة: http://edoc.mdc-berlin.de/20686/
https://edoc.mdc-berlin.de/20686/
http://edoc.mdc-berlin.de/20686/1/20686oa.pdf
http://edoc.mdc-berlin.de/20686/7/20686suppl.doc
https://doi.org/10.1038/srep36208

المؤلفون: Owczarek-Lipska, M, Jagannathan, V, Drögemüller, C, Lutz, S, Glanemann, B, Leeb, T, Kook, Peter H

المصدر: Owczarek-Lipska, M; Jagannathan, V; Drögemüller, C; Lutz, S; Glanemann, B; Leeb, T; Kook, Peter H (2013). A frameshift mutation in the cubilin gene (CUBN) in Border Collies with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption). PLoS ONE, 8(4):e61144.

مصطلحات موضوعية: Department of Small Animals, 570 Life sciences, biology, 630 Agriculture

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/79644/1/10.1371journal.pone.0061144.pdf; info:pmid/23613799; urn:issn:1932-6203

الاتاحة: https://www.zora.uzh.ch/id/eprint/79644/
https://www.zora.uzh.ch/id/eprint/79644/1/10.1371journal.pone.0061144.pdf
https://doi.org/10.1371/journal.pone.0061144

المؤلفون: Owczarek-Lipska, M, Lauber, B, Molitor, V, Meury, S, Kierczak, M, Tengvall, K, Webster, M T, Jagannathan, V, Schlotter, Y, Willemse, T, Hendricks, A, Bergvall, K, Hedhammar, A, Andersson, G, Lindblad-Toh, K, Favrot, C, Roosje, P, Marti, E, Leeb, T

المصدر: Owczarek-Lipska, M; Lauber, B; Molitor, V; Meury, S; Kierczak, M; Tengvall, K; Webster, M T; Jagannathan, V; Schlotter, Y; Willemse, T; Hendricks, A; Bergvall, K; Hedhammar, A; Andersson, G; Lindblad-Toh, K; Favrot, C; Roosje, P; Marti, E; Leeb, T (2012). Two loci on chromosome 5 are associated with serum IgE levels in Labrador retrievers. PLoS ONE, 7(6):e39176.

مصطلحات موضوعية: Department of Small Animals, 570 Life sciences, biology, 630 Agriculture

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/70627/1/journal.pone.0039176.pdf; info:pmid/22720065; urn:issn:1932-6203

الاتاحة: https://www.zora.uzh.ch/id/eprint/70627/
https://www.zora.uzh.ch/id/eprint/70627/1/journal.pone.0039176.pdf
https://doi.org/10.1371/journal.pone.0039176

المؤلفون: Braunschweig, M.H., Owczarek-Lipska, M., Stahlberger-Saitbekova, N.

المصدر: Braunschweig, M.H.; Owczarek-Lipska, M.; Stahlberger-Saitbekova, N. (2011). Relationship of porcine IGF2 imprinting status to DNA methylation at the H19 DMD and the IGF2 DMRs 1 and 2. BMC genetics, 12(1), p. 47. London: BioMed Central 10.1186/1471-2156-12-47

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/11996/

الاتاحة: https://boris.unibe.ch/11996/1/1471-2156-12-47.pdf
https://boris.unibe.ch/11996/

المؤلفون: Owczarek-Lipska, M., Schelling, C., Eggen, Andre, A., Dolf, Gaudenz, Braunschweig, M.H.

المساهمون: Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech

المصدر: 60th Annual Meeting of the European Association for Animal Production (EAAP), 2427 August 2009
https://hal.inrae.fr/hal-02752308
60th Annual Meeting of the European Association for Animal Production (EAAP), 2427 August 2009, 2009, Barcelona

مصطلحات موضوعية: CATTLE, GENETIC DEFECT, CARDIOMYOPATHY, [SDV]Life Sciences [q-bio]

Relation: hal-02752308; https://hal.inrae.fr/hal-02752308; PRODINRA: 3514

الاتاحة: https://hal.inrae.fr/hal-02752308

المؤلفون: Owczarek-Lipska, M., Thomas, A., André, Catherine, Hölzer, S., Leeb, T.

المساهمون: Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0036-7281 ; Schweizer Archiv für Tierheilkunde ; https://hal.science/hal-01068340 ; Schweizer Archiv für Tierheilkunde, 2011, 153 (9), pp.418--420. ⟨10.1024/0036-7281/a000236⟩.

مصطلحات موضوعية: Animals, Breeding, Dog Diseases, Dogs, Genetic Diseases, Inborn, Switzerland, [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/21866517; hal-01068340; https://hal.science/hal-01068340; PUBMED: 21866517

الاتاحة: https://hal.science/hal-01068340
https://doi.org/10.1024/0036-7281/a000236

المؤلفون: Guziewicz, K.E., Owczarek-Lipska, M., Kuffer, J., Schelling, C., Tontis, A., Denis, Catherine, C., Eggen, Andre, A., Leeb, Tosso Peter Alfred, Dolf, Gaudenz, Braunschweig, M.H.

المساهمون: Unité de recherche Génétique Biochimique et Cytogénétique (LGBC), Institut National de la Recherche Agronomique (INRA)

المصدر: ISSN: 0268-9146.

مصطلحات موضوعية: CATTLE, BOVINE CHROMOSOME 18, DILATED CARDIOMYOPATHY, CHROMOSOME 18 BOVIN, [SDV]Life Sciences [q-bio]

Relation: hal-02655600; https://hal.inrae.fr/hal-02655600; PRODINRA: 6064

الاتاحة: https://hal.inrae.fr/hal-02655600

المؤلفون: Guziewicz, K. E., Owczarek‐Lipska, M., Küffer, J., Schelling, C., Tontis, A., Denis, C., Eggen, A., Leeb, T., Dolf, G., Braunschweig, M. H.

المصدر: Animal Genetics ; volume 38, issue 3, page 265-269 ; ISSN 0268-9146 1365-2052

الاتاحة: http://dx.doi.org/10.1111/j.1365-2052.2007.01596.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2052.2007.01596.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-2052.2007.01596.x

المؤلفون: Owczarek-Lipska, M., Dolf, G., Guziewicz, K. E., Leeb, T., Schelling, C., Posthaus, H., Braunschweig, M. H.

المصدر: Archives of Animal Breeding, 52 (2)

مصطلحات موضوعية: Kardiomyopathie (BDCMP), Troponinkomplex, cardiac troponin I gene (TNNI3), cattle, bovine dilated cardiomyopathy (BDCMP), troponin complex, Swiss Fleckvieh, Cardiac Troponin I Gen (TNNI3), bovine dilatative, Schweizerisches Fleckvieh, Rind, musculoskeletal system

وصف الملف: application/application/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::586faa1fe4d9b60c6537f12785f6a421
https://hdl.handle.net/20.500.11850/20131

المؤلفون: Owczarek-Lipska, M., Lauber, B., Molitor, V., Meury, S., Kierczak, M., Tengvall, K., Webster, M.T., Jagannathan, V., Schlotter, Y.M., Willemse, A., Hendricks, A., Bergvall, K., Hedhammer, A., Andersson, G., Lindblad-Toh, K., Favrot, C., Roosje, P., Marti, E., Leeb, T.

المصدر: PLoS One vol.7 (2012) nr.6 p.10.1371/journal.pone.0039176 [ISSN 1932-6203]

مصطلحات الفهرس: Article

URL: https://research-portal.uu.nl/en/publications/30e2fd38-f3f0-4597-bc87-5bbc16a34786
https://dspace.library.uu.nl/bitstream/handle/1874/274547/Two%2520loci%2520on%2520chromosome%25205%2520are%2520associated%2520with%2520serum%2520IgE....pdf?sequence=1
https://dspace.library.uu.nl/bitstream/handle/1874/274547/Two%2520loci%2520on%2520chromosome%25205%2520are%2520associated%2520with%2520serum%2520IgE....pdf?sequence=1

المؤلفون: Advances in Veterinary Medicine, Geneeskunde van gezelschapsdieren, Owczarek-Lipska, M., Lauber, B., Molitor, V., Meury, S., Kierczak, M., Tengvall, K., Webster, M.T., Jagannathan, V., Schlotter, Y.M., Willemse, A., Hendricks, A., Bergvall, K., Hedhammer, A., Andersson, G., Lindblad-Toh, K., Favrot, C., Roosje, P., Marti, E., Leeb, T.

URL: https://doi.org/10.1371/journal.pone.0039176
http://hdl.handle.net/1874/274547
1932-6203
PLoS One
7
6
e39176

المؤلفون: Owczarek-Lipska, M., Dolf, G., Guziewicz, K. E., Leeb, T., Schelling, C., Horst Posthaus, Braunschweig, M. H.

المصدر: Scopus-Elsevier

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ae9fa2c2989fd3fa2c278b6b8c2b0024
http://www.scopus.com/inward/record.url?eid=2-s2.0-67549100815&partnerID=MN8TOARS

المؤلفون: Serdal Güngör, Benita Grossmann, Bethany Y. Norton, Zubair M. Ahmed, Wendy K. Chung, John Neidhardt, Julie S. Cohen, Elodie Richard, Yoel Hirsch, Jiankang Li, Jozef Gecz, Ralf A. Husain, Saima Riazuddin, Maria J. Guillen Sacoto, Claudia Steen, Andreas Ziegler, G. Christoph Korenke, Dominic Lenz, Mahim Jain, Urania Kotzaeridou, Henry Houlden, Theresa Brunet, Yavuz Oktay, Semra Hiz, Patricia Cornejo, Sheetal Shetty, Alastair H. MacLennan, Nazira Zharkinbekova, Bader Alhaddad, Dani L. Webber, Mary Alice Abbott, Hanns Lochmüller, Rauan Kaiyrzhanov, Melissa Yelton, Cecilia Mancini, Hakon Hakonarson, Amy Crunk, Simona Amenta, Yiran Guo, Jan Kaslin, Clare L. van Eyk, Richard Webster, Arianna Tucci, Alex M. Pagnozzi, Robert B. Hufnagel, Kirsty McWalter, Sandra M. Nordlie, Kaya Bilguvar, Pasquale Striano, Matias Wagner, Florian Kreuder, Lisa Worgan, Ashley P.L. Marsh, Anna Chassevent, Warren A. Marks, James Liu, Brandon S. Guida, Maria Margherita Mancardi, Kelly Harper, Lance H. Rodan, Rhonda E. Schnur, Dianela Judith Claps Sepulveda, Tzvi Weiden, Michele Pinelli, Marion Rapp, Helen Magee, Jesia G. Berry, Aboulfazl Rad, Michael C. Kruer, Mark A. Corbett, Rita Horvath, Constance Smith-Hicks, Joseph Ekstein, Marta Owczarek-Lipska, Somayeh Bakhtiari, Heinrich Sticht, Thomas Meitinger, Anne M. Comi, Alyssa Blesson, Iris Marquardt, Francesca Clementina Radio, Sergio Padilla-Lopez, Giuseppe Marangi, Christine Makowski, Mona Grimmel, Marco Tartaglia, Sheng Chih Jin, Federico Zara, Andreas Hahn, Shrikant Mane, Michael C Fahey, Marcella Zollino, Barbara Vona, Peter D. Turnpenny, Manuela Morleo, Ute Grasshoff, Amber Begtrup, Richard E. Person, Annalaura Torella, Alexander Münchau, Vincenzo Nigro, Reza Maroofian, John Christodoulou, Tobias B. Haack, Vincenzo Salpietro

المساهمون: Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., Blesson, A., Rodan, L. H., Abbott, M. -A., Comi, A., Cohen, J. S., Alhaddad, B., Meitinger, T., Lenz, D., Ziegler, A., Kotzaeridou, U., Brunet, T., Chassevent, A., Smith-Hicks, C., Ekstein, J., Weiden, T., Hahn, A., Zharkinbekova, N., Turnpenny, P., Tucci, A., Yelton, M., Horvath, R., Gungor, S., Hiz, S., Oktay, Y., Lochmuller, H., Zollino, M., Morleo, M., Marangi, G., Nigro, V., Torella, A., Pinelli, M., Amenta, S., Husain, R. A., Grossmann, B., Rapp, M., Steen, C., Marquardt, I., Grimmel, M., Grasshoff, U., Korenke, G. C., Owczarek-Lipska, M., Neidhardt, J., Radio, F. C., Mancini, C., Claps Sepulveda, D. J., Mcwalter, K., Begtrup, A., Crunk, A., Guillen Sacoto, M. J., Person, R., Schnur, R. E., Mancardi, M. M., Kreuder, F., Striano, P., Zara, F., Chung, W. K., Marks, W. A., van Eyk, C. L., Webber, D. L., Corbett, M. A., Harper, K., Berry, J. G., Maclennan, A. H., Gecz, J., Tartaglia, M., Salpietro, V., Christodoulou, J., Kaslin, J., Padilla-Lopez, S., Bilguvar, K., Munchau, A., Ahmed, Z. M., Hufnagel, R. B., Fahey, M. C., Maroofian, R., Houlden, H., Sticht, H., Mane, S. M., Rad, A., Vona, B., Jin, S. C., Haack, T. B., Makowski, C., Hirsch, Y., Riazuddin, S., Kruer, M. C.

المصدر: Am. J. Hum. Genet. 108, 2006-2016 (2021)
Am J Hum Genet

مصطلحات موضوعية: Male, Microcephaly, Pathology, Settore MED/03 - GENETICA MEDICA, sensorineural hearing loss, Epilepsy, Neurodevelopmental disorder, sensorineural hearing lo, Genetics (clinical), Allele, ATPases Associated with Diverse Cellular Activitie, medicine.anatomical_structure, Muscle Spasticity, Child, Preschool, Sensorineural hearing loss, Female, movement disorder, medicine.symptom, AAA+ superfamily, Human, Adult, medicine.medical_specialty, Adolescent, Hearing loss, Aaa+ Superfamily, Atpase, Spata5l1, Cerebral Palsy, Intellectual Disability, Movement Disorder, Neurodevelopmental Disorder, Sensorineural Hearing Loss, Biology, Cerebral palsy, White matter, Young Adult, Report, Genetics, medicine, Animals, Humans, ATPase, Genetic Predisposition to Disease, Hearing Loss, SPATA5L1, Hearing Lo, Alleles, cerebral palsy, Periventricular leukomalacia, Animal, Infant, Newborn, Infant, Genetic Variation, medicine.disease, neurodevelopmental disorder, Rats, ATPases Associated with Diverse Cellular Activities, Rat

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1887f7ac3875dcbc64050199115f63ee
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=63291