المؤلفون: van Eyk, C. L.^{Aff1, Aff2}, Webber, D. L.^{Aff1, Aff2}, Minoche, A. E., Pérez-Jurado, L. A.^{Aff2, Aff4, Aff5}, Corbett, M. A.^{Aff1, Aff2}, Gardner, A. E., Berry, J. G.^{Aff1, Aff2}, Harper, K.^{Aff1, Aff2}, MacLennan, A. H.^{Aff1, Aff2}, Gecz, J.^{Aff1, Aff2, Aff4}

المصدر: npj Genomic Medicine. 6(1)

المؤلفون: van Eyk, C. L.^{Aff1, Aff2}, Corbett, M. A.^{Aff1, Aff2}, Frank, M. S. B.^{Aff1, Aff2}, Webber, D. L.^{Aff1, Aff2}, Newman, M., Berry, J. G.^{Aff1, Aff2}, Harper, K.^{Aff1, Aff2}, Haines, B. P.^{Aff1, Aff2}, McMichael, G.^{Aff1, Aff2}, Woenig, J. A.^{Aff1, Aff2}, MacLennan, A. H.^{Aff1, Aff2}, Gecz, J.^{Aff1, Aff2, Aff4}

المصدر: npj Genomic Medicine. 4(1)

المؤلفون: Jin, S. C., Lewis, S. A., Bakhtiari, S., Zeng, X., Sierant, M. C., Shetty, S., Nordlie, S. M., Elie, A., Corbett, M. A., Norton, B. Y., van Eyk, C. L., Haider, S., Guida, B. S., Magee, H., Liu, J. M., Pastore, S., Vincent, J. B., Brunstrom-Hernandez, J., Papavasileiou, A., Fahey, M. C., Berry, J. G., Harper, K., Zhou, C. C., Zhang, J. H., Li, B. Y., Heim, J., Webber, D. L., Frank, M. S. B., Xia, L., Xu, Y. R., Zhu, D. N., Zhang, B. H., Sheth, A. H., Knight, J. R., Castaldi, C., Tikhonova, I. R., Lopez-Giraldez, F., Keren, B., Whalen, S., Buratti, J., Doummar, D., Cho, M. G., Retterer, K., Millan, F., Wang, Y. G., Waugh, J. L., Rodan, L., Cohen, J. S., Fatemi, A., LinE, LinE, Phillips, J. P., Feyma, T., MacLennan, S. C., Vaughan, S., Crompton, K. E., Reid, S. M., Reddihough, D. S., Shang, Q., Gao, C., Novak, I., Badawi, N., Wilson, Y. A., McIntyre, S. J., Mane, S. M., Wang, Xiaoyang, 1965, Amor, D. J., Zarnescu, D. C., Lu, Q. S., Xing, Q. H., Zhu, C. L., Bilguvar, K., Padilla-Lopez, S., Lifton, R. P., Gecz, J., MacLennan, A. H., Kruer, M. C.

المصدر: Nature Genetics. 52(10)

مصطلحات موضوعية: Medical Genetics, Medicinsk genetik, Genetics, Genetik, congenital heart-disease, copy-number variations, de-novo, intellectual, disability, truncating mutations, alk kinase, protein, brain, rare, phosphorylation, Genetics & Heredity

URL الوصول: https://gup.ub.gu.se/publication/297233

المؤلفون: Webber, D. L.

المصدر: Australian Journal of Mental Retardation. Mar 1979 5(5):1-4.

Peer Reviewed: N

Page Count: 4

Descriptors: Demography, Early Childhood Education, Elementary Secondary Education, Ethnic Groups, Exceptional Child Research, Foreign Countries, Incidence, Mental Retardation, Surveys

مصطلحات جغرافية: Australia

المؤلفون: Webber, D. L.

المصدر: Australian Journal of Mental Retardation; 1979, Vol. 5 Issue 5, p1-4, 4p

المؤلفون: Webber, D. L.

المصدر: Australian Social Work; Jan1978, Vol. 31 Issue 1, p21-26, 6p

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

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