-
1
المؤلفون: Beatrice Spedicati, Aurora Santin, Giuseppe Giovanni Nardone, Elisa Rubinato, Stefania Lenarduzzi, Claudio Graziano, Livia Garavelli, Sara Miccoli, Stefania Bigoni, Anna Morgan, Giorgia Girotto
المساهمون: Spedicati, Beatrice, Santin, Aurora, Nardone, Giuseppe Giovanni, Rubinato, Elisa, Lenarduzzi, Stefania, Graziano, Claudio, Garavelli, Livia, Miccoli, Sara, Bigoni, Stefania, Morgan, Anna, Girotto, Giorgia
المصدر: Biomedicines
Volume 11
Issue 3
Pages: 703مصطلحات موضوعية: Hereditary hearing loss, MLPA, long-range PCR, whole exome sequencing, non-syndromic mimics, dual molecular diagnosis, non-syndromic mimic, hereditary hearing loss, Medicine (miscellaneous), Hereditary hearing lo, General Biochemistry, Genetics and Molecular Biology
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed28c994a86362fcf0708eb8efb38676
https://hdl.handle.net/11368/3040959 -
2
المؤلفون: Anna Rita Fetoni, Anna Pisani, Rolando Rolesi, Fabiola Paciello, Andrea Viziano, Arturo Moleti, Renata Sisto, Diana Troiani, Gaetano Paludetti, Claudio Grassi
المساهمون: Fetoni, A. R., Pisani, A., Rolesi, R., Paciello, F., Viziano, A., Moleti, A., Sisto, R., Troiani, D., Paludetti, G., Grassi, C.
المصدر: Frontiers in Aging Neuroscience, Vol 14 (2022)
مصطلحات موضوعية: oxidative stre, Aging, Settore BIO/09 - FISIOLOGIA, Cognitive Neuroscience, Settore FIS/07, Neurosciences. Biological psychiatry. Neuropsychiatry, acoustic trauma, hearing lo, vascular dysfunction, age-related hearing loss, otorhinolaryngologic diseases, oxidative stress, age-related hearing lo, hearing loss, RC321-571
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f982215ef1defede7f717f0c3c61c6e2
https://doi.org/10.3389/fnagi.2022.803973 -
3
المؤلفون: Alexandre Reymond, Paolo Gasparini, Jacqueline Chrast, Hannie Kremer, Sissy Bassani, Giorgia Girotto, Jiddeke M. van de Kamp, Massimiliano Cocca, Nicolas Guex, Benjamin Delprat, Mireille Rossel, Francesca Amati, Flavio Faletra, Heiko Locher, Yoan Arribat, Sylvain Pradervand, Alban Ziegler, Jeroen Smits, Sandrine Marlin, Norine Voisin, Giuliana Giannuzzi, Tangui Maurice, Anna Morgan, Roxane Machavoine, Edward S A van Beelen, Nicolas Chatron
المساهمون: Clinical genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Gastroenterology Endocrinology Metabolism, Bassani, Sissy, van Beelen, Edward, Rossel, Mireille, Voisin, Norine, Morgan, Anna, Arribat, Yoan, Chatron, Nicola, Chrast, Jacqueline, Cocca, Massimiliano, Delprat, Benjamin, Faletra, Flavio, Giannuzzi, Giuliana, Guex, Nicola, Machavoine, Roxane, Pradervand, Sylvain, Smits, Jeroen J, van de Kamp, Jiddeke M, Ziegler, Alban, Amati, Francesca, Marlin, Sandrine, Kremer, Hannie, Locher, Heiko, Maurice, Tangui, Gasparini, Paolo, Girotto, Giorgia, Reymond, Alexandre
المصدر: Bassani, S, van Beelen, E, Rossel, M, Voisin, N, Morgan, A, Arribat, Y, Chatron, N, Chrast, J, Cocca, M, Delprat, B, Faletra, F, Giannuzzi, G, Guex, N, Machavoine, R, Pradervand, S, Smits, J J, van de Kamp, J M, Ziegler, A, Amati, F, Marlin, S, Kremer, H, Locher, H, Maurice, T, Gasparini, P, Girotto, G & Reymond, A 2021, ' Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss ', Human Molecular Genetics, vol. 30, no. 19, pp. 1785-1796 . https://doi.org/10.1093/hmg/ddab145
Human Molecular Genetics, 30(19), 1785-1796. OXFORD UNIV PRESS
Human Molecular Genetics, 30(19), 1785-1796. Oxford University Press
Human Molecular Genetics, 30, 19, pp. 1785-1796
Human Molecular Genetics, 30, 1785-1796مصطلحات موضوعية: 0301 basic medicine, Reflex, Startle, Hydrolases, Hearing loss, Spiral limbus, ubiquitin hydrolase, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Hereditary hearing loss, USP48, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, otorhinolaryngologic diseases, Animals, Humans, Missense mutation, Inner ear, Hearing Loss, Molecular Biology, Zebrafish, Genetics (clinical), Exome sequencing, Spiral ganglion, biology, Ubiquitin, Cochlear nerve, Hereditary hearing lo, General Medicine, biology.organism_classification, 030104 developmental biology, medicine.anatomical_structure, Ubiquitin-Specific Proteases, sense organs, medicine.symptom, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f04c37bdd5fbeef500c5817cdbe20bc
https://doi.org/10.1093/hmg/ddab145 -
4
المؤلفون: Ronald M. Hansen, Lucia Ambrosio, Andrea M. Oza, Genevieve Medina, Kosuke Kawai, Anne Moskowitz, Anne B. Fulton, Margaret A. Kenna, Juliana Manganella, Devon Barrett
المساهمون: Ambrosio, L., Hansen, R. M., Moskowitz, A., Oza, A., Barrett, D., Manganella, J., Medina, G., Kawai, K., Fulton, A. B., Kenna, M.
المصدر: Documenta Ophthalmologica. 143:39-51
مصطلحات موضوعية: medicine.medical_specialty, Visual acuity, genetic structures, Usher syndrome, Early detection, Fundus (eye), 03 medical and health sciences, Dark-adapted visual threshold, 0302 clinical medicine, Physiology (medical), Ophthalmology, otorhinolaryngologic diseases, Medicine, business.industry, Full-field electroretinogram, Repeated measures design, medicine.disease, Normal limit, eye diseases, Sensory Systems, Dark-adapted, Sensorineural hearing lo, 030221 ophthalmology & optometry, Sensorineural hearing loss, sense organs, medicine.symptom, business, 030217 neurology & neurosurgery
-
5
المؤلفون: Angelo Ghidini, Gian Gaetano Ferri, Cristina Brandolini, Andrea Castellucci, Valeria Del Vecchio, Gianluca Piras
المساهمون: Castellucci, Andrea, Piras, Gianluca, Del Vecchio, Valeria, Ferri, Gian Gaetano, Ghidini, Angelo, Brandolini, Cristina, Castellucci, A., Piras, G., Del Vecchio, V., Ferri, G. G., Ghidini, A., Brandolini, C.
المصدر: Otology & Neurotology. 42:573-584
مصطلحات موضوعية: Male, medicine.medical_specialty, Benign paroxysmal positional vertigo, Semicircular Canal, Sudden sensorineural hearing lo, Inferior vestibular neuriti, Posterior semicircular canal, Lesion, 03 medical and health sciences, Vestibular schwannoma, 0302 clinical medicine, Retrospective Studie, Caloric Tests, medicine, Video head impulse test, Humans, Inner ear, 030223 otorhinolaryngology, Head Impulse Test, Meniere Disease, Retrospective Studies, Vestibular evoked myogenic potential, medicine.diagnostic_test, Posterior Semicircular Canal, business.industry, Benign paroxysmal positional vertigo , Inferior vestibular neuritis , Menière's disease , Posterior semicircular canal , Sudden sensorineural hearing loss , Vestibular evoked myogenic potentials , Vestibular schwannoma , Video head impulse test, Head impulse test, Middle Aged, Cerebellopontine angle, medicine.disease, Semicircular Canals, Sensory Systems, Pathophysiology, medicine.anatomical_structure, Otorhinolaryngology, Female, Neurology (clinical), Radiology, medicine.symptom, Audiometry, business, Menière's disease, 030217 neurology & neurosurgery, Caloric Test, Human
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c2122df8310b16b16f78389cd1ac6e1
https://doi.org/10.1097/mao.0000000000002995 -
6
المؤلفون: Natalia Trpchevska, Maxim B. Freidin, Linda Broer, Berthe C. Oosterloo, Shuyang Yao, Yitian Zhou, Barbara Vona, Charles Bishop, Argyro Bizaki-Vallaskangas, Barbara Canlon, Fabio Castellana, Daniel I. Chasman, Stacey Cherny, Kaare Christensen, Maria Pina Concas, Adolfo Correa, Ran Elkon, Jonas Mengel-From, Yan Gao, Anne B.S. Giersch, Giorgia Girotto, Alexander Gudjonsson, Vilmundur Gudnason, Nancy L. Heard-Costa, Ronna Hertzano, Jacob v.B. Hjelmborg, Jens Hjerling-Leffler, Howard J. Hoffman, Jaakko Kaprio, Johannes Kettunen, Kristi Krebs, Anna K. Kähler, Francois Lallemend, Lenore J. Launer, I-Min Lee, Hampton Leonard, Chuan-Ming Li, Hubert Lowenheim, Patrik K.E. Magnusson, Joyce van Meurs, Lili Milani, Cynthia C. Morton, Antti Mäkitie, Mike A. Nalls, Giuseppe Giovanni Nardone, Marianne Nygaard, Teemu Palviainen, Sheila Pratt, Nicola Quaranta, Joel Rämö, Elmo Saarentaus, Rodolfo Sardone, Claudia L. Satizabal, John M. Schweinfurth, Sudha Seshadri, Eric Shiroma, Eldad Shulman, Eleanor Simonsick, Christopher Spankovich, Anke Tropitzsch, Volker M. Lauschke, Patrick F. Sullivan, Andre Goedegebure, Christopher R. Cederroth, Frances M.K. Williams, Andries Paul Nagtegaal, Andres Metspalu, Mari Nelis, Reedik Mägi, Tõnu Esko
المساهمون: Tampere University, Clinical Medicine, Department of Otology and Oral Diseases, Institute for Molecular Medicine Finland, HUS Head and Neck Center, Clinicum, Korva-, nenä- ja kurkkutautien klinikka, Genetic Epidemiology, Genomics of Neurological and Neuropsychiatric Disorders, Complex Disease Genetics, Trpchevska, Natalia, Freidin, Maxim B, Broer, Linda, Oosterloo, Berthe C, Yao, Shuyang, Zhou, Yitian, Vona, Barbara, Bishop, Charle, Bizaki-Vallaskangas, Argyro, Canlon, Barbara, Castellana, Fabio, Chasman, Daniel I, Cherny, Stacey, Christensen, Kaare, Concas, Maria Pina, Correa, Adolfo, Elkon, Ran, Mengel-From, Jona, Gao, Yan, Giersch, Anne B S, Girotto, Giorgia, Gudjonsson, Alexander, Gudnason, Vilmundur, Heard-Costa, Nancy L, Hertzano, Ronna, Hjelmborg, Jacob V B, Hjerling-Leffler, Jen, Hoffman, Howard J, Kaprio, Jaakko, Kettunen, Johanne, Krebs, Kristi, Kähler, Anna K, Lallemend, Francoi, Launer, Lenore J, Lee, I-Min, Leonard, Hampton, Li, Chuan-Ming, Lowenheim, Hubert, Magnusson, Patrik K E, van Meurs, Joyce, Milani, Lili, Morton, Cynthia C, Mäkitie, Antti, Nalls, Mike A, Nardone, Giuseppe Giovanni, Nygaard, Marianne, Palviainen, Teemu, Pratt, Sheila, Quaranta, Nicola, Rämö, Joel, Saarentaus, Elmo, Sardone, Rodolfo, Satizabal, Claudia L, Schweinfurth, John M, Seshadri, Sudha, Shiroma, Eric, Shulman, Eldad, Simonsick, Eleanor, Spankovich, Christopher, Tropitzsch, Anke, Lauschke, Volker M, Sullivan, Patrick F, Goedegebure, Andre, Cederroth, Christopher R, Williams, Frances M K, Nagtegaal, Andries Paul, Internal Medicine, Otorhinolaryngology and Head and Neck Surgery
المصدر: Trpchevska, N, Freidin, M B, Broer, L, Oosterloo, B C, Yao, S, Zhou, Y, Vona, B, Bishop, C, Bizaki-vallaskangas, A, Canlon, B, Castellana, F, Chasman, D I, Cherny, S, Christensen, K, Concas, M P, Correa, A, Elkon, R, Mengel-from, J, Gao, Y, Giersch, A B S, Girotto, G, Gudjonsson, A, Gudnason, V, Heard-costa, N L, Hertzano, R, Hjelmborg, J V B, Hjerling-leffler, J, Hoffman, H J, Kaprio, J, Kettunen, J, Krebs, K, Kähler, A K, Lallemend, F, Launer, L J, Lee, I, Leonard, H, Li, C, Lowenheim, H, Magnusson, P K E, Van Meurs, J, Milani, L, Morton, C C, Mäkitie, A, Nalls, M A, Nardone, G G, Nygaard, M, Palviainen, T, Pratt, S, Quaranta, N, Rämö, J, Saarentaus, E, Sardone, R, Satizabal, C L, Schweinfurth, J M, Seshadri, S, Shiroma, E, Shulman, E, Simonsick, E, Spankovich, C, Tropitzsch, A, Lauschke, V M, Sullivan, P F, Goedegebure, A, Cederroth, C R, Williams, F M K, Nagtegaal, A P, Metspalu, A, Nelis, M, Mägi, R & Esko, T 2022, ' Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2022.04.010
American Journal of Human Genetics, 109(6), 1077-1091. Cell Press
The American Journal of Human Geneticsمصطلحات موضوعية: basal cells, hair cells, cochlea, spindle cell, ARHL, GWAS, genetics, hearing loss, root cells, spindle cells, stria vascularis, Animals, Cochlea, Genome-Wide Association Study, Humans, Mice, Stria Vascularis, Deafness, Hearing Loss, basal cell, hair cell, Hair-cells, Heritability, otorhinolaryngologic diseases, Genetics, Pathogenicity, Gwas data, Deafne, Ld score regression, Ganglion neurons, Genetics (clinical), Animal, 1184 Genetics, developmental biology, physiology, hearing lo, Stria Vasculari, Inner, 3142 Public health care science, environmental and occupational health, root cell, Differentiation, Degeneration, 3111 Biomedicine, genetic, Noise, Human
وصف الملف: fulltext; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adc091fdf2ade424805f1d22909bade0
https://pubmed.ncbi.nlm.nih.gov/35580588 -
7
المؤلفون: Carlotta Micaela, Jarach, Alessandra, Lugo, Chiara, Stival, Cristina, Bosetti, Andrea, Amerio, Luca, Cavalieri d'Oro, Licia, Iacoviello, Anna, Odone, David, Stuckler, Alberto, Zucchi, Piet, van den Brandt, Werner, Garavello, Christopher R, Cederroth, Winfried, Schlee, Silvano, Gallus, Roberta, Ciampichini
المساهمون: Epidemiologie, RS: GROW - R1 - Prevention, RS: CAPHRI - R5 - Optimising Patient Care, Jarach, C, Lugo, A, Stival, C, Bosetti, C, Amerio, A, Cavalieri d'Oro, L, Iacoviello, L, Odone, A, Stuckler, D, Zucchi, A, van den Brandt, P, Garavello, W, Cederroth, C, Schlee, W, Gallus, S
المصدر: Frontiers in Neurology, 13:838291. Frontiers Media S.A.
Frontiers in Neurology, Sec. Neuro-Otologyمصطلحات موضوعية: older adult, COVID-19, cross-sectional study, hearing loss, older adults, tinnitus, Neurology, Neurology (clinical), hearing lo, MENTAL-HEALTH, tinnitu, PREVALENCE
وصف الملف: ELETTRONICO
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e97b75fcd0f0ea53a163ab02e023d6d6
http://hdl.handle.net/11567/1077358 -
8
المؤلفون: Anna Morgan, Flavio Faletra, Giulia Severi, Martina La Bianca, Laura Licchetta, Paolo Gasparini, Claudio Graziano, Giorgia Girotto
المساهمون: Morgan, A., Faletra, F., Severi, G., La Bianca, M., Licchetta, L., Gasparini, P., Graziano, C., Girotto, G.
المصدر: Biomedicines, Vol 10, Iss 12, p 12 (2022)
Biomedicines
Biomedicines; Volume 10; Issue 1; Pages: 12مصطلحات موضوعية: Dual molecular diagnosis, hereditary hearing loss, whole-exome sequencing, dual molecular diagnosis, QH301-705.5, Whole-exome sequencing, Hereditary hearing lo, Medicine (miscellaneous), Biology (General), Hereditary hearing loss, General Biochemistry, Genetics and Molecular Biology, Article, Dual molecular diagnosi
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b3d71775dbeea99f62712b63c115df4
http://hdl.handle.net/11368/3010905 -
9
المساهمون: Forli, F., Lazzerini, F., Auletta, G., Bruschini, L., Berrettini, S.
المصدر: European Archives of Oto-Rhino-Laryngology
مصطلحات موضوعية: Enlarged vestibular aqueduct, Hearing loss, Inner ear malformation, Mondini Malformation, Pendred Syndrome, medicine.medical_specialty, Hearing Loss, Sensorineural, Otology, Congenital hearing loss, Gastroenterology, Vestibular Aqueduct, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, otorhinolaryngologic diseases, medicine, Humans, Inner ear, 030223 otorhinolaryngology, Pendred syndrome, Retrospective Studies, biology, medicine.diagnostic_test, business.industry, food and beverages, Membrane Transport Proteins, Audiology, General Medicine, Pendrin, medicine.disease, medicine.anatomical_structure, Otorhinolaryngology, Sulfate Transporters, 030220 oncology & carcinogenesis, Mutation, biology.protein, sense organs, Pure tone audiometry, medicine.symptom, business, Hearing lo
-
10
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 Genetمصطلحات 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
Find this article in full text from Springer Verlag.