المؤلفون: Jurkute, Neringa, Leu, Costin, Pogoda, Hans‐Martin, Arno, Gavin, Robson, Anthony G, Nürnberg, Gudrun, Altmüller, Janine, Thiele, Holger, Motameny, Susanne, Toliat, Mohammad Reza, Powell, Kate, Höhne, Wolfgang, Michaelides, Michel, Webster, Andrew R, Moore, Anthony T, Hammerschmidt, Matthias, Nürnberg, Peter, Yu‐Wai‐Man, Patrick, Votruba, Marcela

المصدر: Annals of Neurology. 86(3)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Pediatric, Neurosciences, Eye Disease and Disorders of Vision, Rare Diseases, Neurodegenerative, Genetics, 2.1 Biological and endogenous factors, Aetiology, Eye, Animals, Cell Differentiation, Cells, Cultured, DNA-Binding Proteins, Female, Gene Knockdown Techniques, Genetic Linkage, Genetic Predisposition to Disease, Humans, Male, Mice, Mitochondrial Proteins, Mutation, Missense, Optic Atrophy, Autosomal Dominant, Pedigree, RNA, Messenger, Retinal Degeneration, Zebrafish, Clinical Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4xd1523hTest

المؤلفون: Dufour, William, Alawbathani, Salem, Jourdain, Anne-Sophie, Asif, Maria, Baujat, Geneviève, Becker, Christian, Budde, Birgit, Gallacher, Lyndon, Georgomanolis, Theodoros, Ghoumid, Jamal, Höhne, Wolfgang, Lyonnet, Stanislas, Ba-Saddik, Iman Ali, Manouvrier-Hanu, Sylvie, Motameny, Susanne, Noegel, Angelika A., Pais, Lynn, Vanlerberghe, Clémence, Wagle, Prerana, White, Susan M., Willems, Marjolaine, Nürnberg, Peter, Escande, Fabienne, Petit, Florence, Hussain, Muhammad Sajid

المصدر: Genetics in Medicine ; volume 24, issue 8, page 1708-1721 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.04.022Test
https://api.elsevier.com/content/article/PII:S1098360022007511?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022007511?httpAccept=text/plainTest

المؤلفون: Iqbal, Maria, Maroofian, Reza, Çavdarli, Büşranur, Riccardi, Florence, Field, Michael, Banka, Siddharth, Bubshait, Dalal, Li, Yun, Hertecant, Jozef, Baig, Shahid, Dyment, David, Efthymiou, Stephanie, Abdullah, Uzma, Makhdoom, Ehtisham, Ali, Zafar, Scherf de Almeida, Tobias, Molinari, Florence, Mignon-Ravix, Cécile, Chabrol, Brigitte, Antony, Jayne, Ades, Lesley, Pagnamenta, Alistair, Jackson, Adam, Douzgou, Sofia, Ambrose, J, Arumugam, P, Bleda, M, Boardman-Pretty, F, Boustred, C, Brittain, H, Caulfield, M, Chan, G, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, T, Jackson, R, Jones, L, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, S, Leong, I, Lopez, F, Maleady-Crowe, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A, O’donovan, P, Odhams, C, Patch, C, Perez-Gil, D, Pereira, M, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, R, Siddiq, A, Sieghart, A, Smith, S, Sosinsky, A, Stuckey, A, Tanguy, M, Thomas, E, Thompson, S, Tucci, A, Walsh, E, Welland, M, Williams, E, Witkowska, K, Wood, S, Beetz, Christian, Karageorgou, Vasiliki, Vona, Barbara, Rad, Aboulfazl, Baig, Jamshaid, Sultan, Tipu, Alvi, Javeria, Maqbool, Shazia, Rahman, Fatima, Toosi, Mehran, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan, Sarwar, Yasra, Khan, Sheraz, Jameel, Muhammad, Noegel, Angelika, Budde, Birgit, Altmüller, Janine, Motameny, Susanne, Höhne, Wolfgang, Houlden, Henry, Nürnberg, Peter, Wollnik, Bernd, Villard, Laurent, Alkuraya, Fowzan, Osmond, Matthew, Hussain, Muhammad, Yigit, Gökhan

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale Hôpital de la Timone - APHM, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neurologie, maladies neuro-musculaires Hôpital de la Timone - APHM, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone CHU - APHM (TIMONE)

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics

العلاقة: hal-03322569; https://hal.science/hal-03322569Test; https://hal.science/hal-03322569/documentTest; https://hal.science/hal-03322569/file/Iqbal%20et%20al,%20PCDHGC4,%20GiM,%202021.pdfTest

الإتاحة: https://doi.org/10.1038/s41436-021-01260-4Test
https://hal.science/hal-03322569Test
https://hal.science/hal-03322569/documentTest
https://hal.science/hal-03322569/file/Iqbal%20et%20al,%20PCDHGC4,%20GiM,%202021.pdfTest

المؤلفون: Gizak, Agnieszka, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Wiśniewski, Janusz, Duda, Przemysław, Ohlenbusch, Andreas, Huppke, Brenda, Henneke, Marco, Höhne, Wolfgang, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Rakus, Dariusz, Gärtner, Jutta, Huppke, Peter

العلاقة: https://resolver.sub.uni-goettingen.de/purl?gro-2/111188Test

الإتاحة: https://doi.org/10.1093/braincomms/fcab036Test
https://resolver.sub.uni-goettingen.de/purl?gro-2/111188Test

المؤلفون: Makhdoom, Ehtisham Ul Haq, Waseem, Syeda Seema, Iqbal, Maria, Abdullah, Uzma, Hussain, Ghulam, Asif, Maria, Budde, Birgit, Höhne, Wolfgang, Tinschert, Sigrid, Saadi, Saadia Maryam, Yousaf, Hammad, Ali, Zafar, Fatima, Ambrin, Kaygusuz, Emrah, Khan, Ayaz, Jameel, Muhammad, Khan, Sheraz, Tariq, Muhammad, Anjum, Iram, Altmüller, Janine, Thiele, Holger, Höning, Stefan

المساهمون: Baig, Shahid Mahmood, Nürnberg, Peter, Hussain, Muhammad Sajid, Kaygusuz, Emrah

مصطلحات موضوعية: MCPH, Seckel Syndrome, Modifier Alleles, Primordial Dwarfism, Impaired Splicing, Supernumerary Centrosomes

وصف الملف: application/pdf

العلاقة: Genes; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; PubMed; Scopus; WoS; WoS - Science Citation Index Expanded; Makhdoom, E. U. H., Waseem, S. S., Iqbal, M., Abdullah, U., Hussain, G., Asif, M., . & Hussain, M. S. (2021). Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ. Genes, 12(5), 731.; https://www.mdpi.com/2073-4425/12/5/731Test; http://dx.doi.org/10.3390/genes12050731Test; https://hdl.handle.net/11552/1988Test; 12; 731

الإتاحة: https://doi.org/10.3390/genes12050731Test
https://hdl.handle.net/11552/1988Test
https://www.mdpi.com/2073-4425/12/5/731Test

المؤلفون: Asif, Maria, Mocanu, Ionut Dragos, Abdullah, Uzma, Höhne, Wolfgang, Altmüller, Janine, Makhdoom, Ehtisham Ul Haq, Thiele, Holger, Baig, Shahid Mahmood, Nürnberg, Peter, Graul‐Neumann, Luitgard, Hussain, Muhammad Sajid

المساهمون: Center for Molecular Medicine Cologne, University of Cologne

المصدر: American Journal of Medical Genetics Part A ; volume 188, issue 4, page 1251-1258 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.62610Test

المؤلفون: Thiele, Holger, Sakano, Masahiro, Kitagawa, Hiroshi, Sugahara, Kazuyuki, Rajab, Anna, Höhne, Wolfgang, Ritter, Heide, Leschik, Gundula, Nürnberg, Peter, Mundlos, Stefan, McKusick, Victor A.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2004 Jul 01. 101(27), 10155-10160.

الوصول الحر: https://www.jstor.org/stable/3372603Test

المؤلفون: Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

المصدر: The American Journal of Human Genetics ; volume 102, issue 4, page 713 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.03.020Test
https://api.elsevier.com/content/article/PII:S0002929718301095?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929718301095?httpAccept=text/plainTest

المؤلفون: Winter, Gordon, Dökel, Simon, Jones, Anne K., Scheerer, Patrick, Krauss, Norbert, Höhne, Wolfgang, Friedrich, Bärbel

المصدر: Acta crystallographica / F, 66 (4), 452-455 ; ISSN: 1744-3091, 2053-230X

مصطلحات موضوعية: ddc:570, Life sciences, biology, info:eu-repo/classification/ddc/570

العلاقة: info:eu-repo/semantics/altIdentifier/wos/000276488700018; info:eu-repo/semantics/altIdentifier/issn/1744-3091; info:eu-repo/semantics/altIdentifier/issn/2053-230X; https://publikationen.bibliothek.kit.edu/1000066781Test

الإتاحة: https://doi.org/10.1107/S1744309110006196Test
https://publikationen.bibliothek.kit.edu/1000066781Test

المؤلفون: Park, Jung Hee, Pulvermüller, Alexander, Scheerer, Patrick, Rausch, Sebastian, Gießl, Andreas, Höhne, Wolfgang, Wolfrum, Uwe, Hofmann, Klaus Peter, Ernst, Oliver Peter, Choe, Hui-Woog, Krauß, Norbert

المصدر: Vision research, 46 (27), 4568-4574 ; ISSN: 0042-6989, 1878-5646

مصطلحات موضوعية: ddc:570, Life sciences, biology, info:eu-repo/classification/ddc/570

العلاقة: info:eu-repo/semantics/altIdentifier/wos/000242674400016; info:eu-repo/semantics/altIdentifier/issn/0042-6989; info:eu-repo/semantics/altIdentifier/issn/1878-5646; https://publikationen.bibliothek.kit.edu/1000067010Test

الإتاحة: https://doi.org/10.1016/j.visres.2006.07.034Test
https://publikationen.bibliothek.kit.edu/1000067010Test