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: McMichael, G, Bainbridge, M N, Haan, E^{Aff3, Aff4}, Corbett, M^{Aff1, Aff4}, Gardner, A^{Aff1, Aff4}, Thompson, S^{Aff4, Aff5}, van Bon, B W M^{Aff3, Aff6}, van Eyk, C L, Broadbent, J, Reynolds, C, O'Callaghan, M E, Nguyen, L S, Adelson, D L, Russo, R, Jhangiani, S, Doddapaneni, H, Muzny, D M, Gibbs, R A, Gecz, J^{Aff1, Aff4, IDmp2014189_cor19}, MacLennan, A H

المصدر: Molecular Psychiatry. 20(2):176-182

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: Samaraweera, S. E., O'Keefe, L. V., van Eyk, C. L., Lawlor, K. T., Humphreys, D. T., Suter, C. M., Richards, R. I.

المصدر: Tandem Repeats in Genes, Proteins & Disease; 2013, p173-192, 20p

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

المؤلفون: van Eyk CL; Australian Collaborative Cerebral Palsy Research Group, Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia; Neurogenetics Research Program, Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia. Electronic address: clare.vaneyk@adelaide.edu.au., Corbett MA; Australian Collaborative Cerebral Palsy Research Group, Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia; Neurogenetics Research Program, Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia., Maclennan AH; Australian Collaborative Cerebral Palsy Research Group, Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia.

المصدر: Handbook of clinical neurology [Handb Clin Neurol] 2018; Vol. 147, pp. 331-342.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0166161 Publication Model: Print Cited Medium: Internet ISSN: 0072-9752 (Print) Linking ISSN: 00729752 NLM ISO Abbreviation: Handb Clin Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Cerebral Palsy/*diagnosis , Cerebral Palsy/*genetics , Genetic Variation/*genetics, Humans ; Sequence Analysis, DNA

المؤلفون: Samaraweera SE; ARC Special Research Centre for the Molecular Genetics of Development and Discipline of Genetics, School of Molecular and Biomedical Sciences, The University of Adelaide, Adelaide, SA, Australia., O'Keefe LV, van Eyk CL, Lawlor KT, Humphreys DT, Suter CM, Richards RI

المصدر: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2013; Vol. 1017, pp. 173-92.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

مواضيع طبية MeSH: Cytotoxins*/biosynthesis , Cytotoxins*/genetics , Heredodegenerative Disorders, Nervous System*/genetics , Heredodegenerative Disorders, Nervous System*/metabolism , RNA*/biosynthesis , RNA*/genetics , Tandem Repeat Sequences*, Animals ; Disease Models, Animal ; Drosophila melanogaster ; Humans

عنوان ترانسليتريتد: Allergie voor de Ficus benjamina: zowel op het werk als in huis.

المؤلفون: van Ginkel CJ; Academisch Ziekenhuis, afd. Dermatologie-Allergologie, Utrecht., Dijkstra AT, van Eyk CL, den Hengst CW, Bruijnzeel-Koomen CA

المصدر: Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 1997 Apr 19; Vol. 141 (16), pp. 782-4.

نوع المنشور: Case Reports; English Abstract; Journal Article

بيانات الدورية: Publisher: Vereniging NTvG Country of Publication: Netherlands NLM ID: 0400770 Publication Model: Print Cited Medium: Print ISSN: 0028-2162 (Print) Linking ISSN: 00282162 NLM ISO Abbreviation: Ned Tijdschr Geneeskd Subsets: MEDLINE

مواضيع طبية MeSH: Plants*, Hypersensitivity/*etiology , Occupational Diseases/*etiology, Adult ; Dermatitis, Contact/etiology ; Female ; Humans ; Male ; Middle Aged ; Respiratory Hypersensitivity/etiology