Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Elbadawy, Amera"'
Autor:
Makrythanasis, Periklis, Maroofian, Reza, Stray-Pedersen, Asbjørg, Musaev, Damir, Zaki, Maha S., Mahmoud, Iman G., Selim, Laila, Elbadawy, Amera, Jhangiani, Shalini N., Akdemir, Zeynep H. Coban, Gambin, Tomasz, Sorte, Hanne Sørmo, Heiberg, Arvid, McEvoy-Venneri, Jennifer, James, Kiely N., Stanley, Valentina, Belandres, Denice, Guipponi, Michel, Santoni, Federico A., Ahangari, Najmeh, Tara, Fatemeh, Doosti, Mohammad, Iwaszkiewicz, Justyna, Zoete, Vincent, Backe, Paul Hoff, Hamamy, Hanan, Gleeson, Joseph G., Lupski, James R., Karimiani, Ehsan Ghayoor, Antonarakis, Stylianos E.
Publikováno v:
Makrythanasis, Periklis Maroofian, Reza Stray-Pedersen, Asbjørg Musaev, Damir Zaki, Maha S. Mahmoud, Iman G. Selim, Laila Elbadawy, Amera Jhangiani, Shalini N. Akdemir, Zeynep H. Coban Gambin, Tomasz Sorte, Hanne Sørmo Heiberg, Arvid McEvoy-Venneri, Jennifer James, Kiely N. Stanley, Valentina Belandres, Denice Guipponi, Michel Santoni, Federico A. Ahangari, Najmeh Tara, Fatemeh Doosti, Mohammad Iwaszkiewicz, Justyna Zoete, Vincent Backe, Paul Hoff Hamamy, Hanan Gleeson, Joseph G. Lupski, James R. Karimiani, Ehsan Ghayoor Antonarakis, Stylianos E. . Biallelic variants in KIF14 cause intellectual disability with microcephaly. European Jo
European Jo
European Jo
Externí odkaz:
http://hdl.handle.net/10852/71698
https://www.duo.uio.no/bitstream/handle/10852/71698/2/Makrythanasis_et_al_2018.pdf
https://www.duo.uio.no/bitstream/handle/10852/71698/2/Makrythanasis_et_al_2018.pdf
Autor:
SELIM, LAILA, ABDELHAMID, NEHAL, SALAMA, EMAD, ELBADAWY, AMERA, GAMALELDIN, IMAN, ABDELMONEIM, MOHAMED, SELIM, ABEER
Publikováno v:
Journal of Clinical & Diagnostic Research; Nov2016, Vol. 10 Issue 11, p5-8, 4p
Autor:
Makrythanasis, Periklis, Maroofian, Reza, Stray-Pedersen, Asbjørg, Musaev, Damir, Zaki, Maha, Mahmoud, Iman, Selim, Laila, Elbadawy, Amera, Jhangiani, Shalini, Coban Akdemir, Zeynep, Gambin, Tomasz, Sorte, Hanne, Heiberg, Arvid, McEvoy-Venneri, Jennifer, James, Kiely, Stanley, Valentina, Belandres, Denice, Guipponi, Michel, Santoni, Federico, Ahangari, Najmeh, Tara, Fatemeh, Doosti, Mohammad, Iwaszkiewicz, Justyna, Zoete, Vincent, Backe, Paul, Hamamy, Hanan, Gleeson, Joseph, Lupski, James, Karimiani, Ehsan, Antonarakis, Stylianos
Publikováno v:
European Journal of Human Genetics: EJHG; March 2018, Vol. 26 Issue: 3 p330-339, 10p
Autor:
Makrythanasis P; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland., Maroofian R; Medical Research, RILD Welcome Wolfson Centre, Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Genetics and Molecular Cell Sciences Research Centre, St George's University of London, Cranmer Terrace, London, SW17 0RE, UK., Stray-Pedersen A; Norwegian National Unit for Newborn Screening, Oslo University Hospital, Oslo, Norway.; Department of Pediatrics, Oslo University Hospital, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Musaev D; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, 92093, USA., Zaki MS; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt., Mahmoud IG; Pediatric Neurology and Neurometabolic Unit, Pediatric Department, Cairo University Children Hospital, Cairo, Egypt., Selim L; Pediatric Neurology and Neurometabolic Unit, Pediatric Department, Cairo University Children Hospital, Cairo, Egypt., Elbadawy A; Pediatric Neurology and Neurometabolic Unit, Pediatric Department, Cairo University Children Hospital, Cairo, Egypt., Jhangiani SN; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center of Baylor College of Medicine, Houston, TX, 77030, USA., Coban Akdemir ZH; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Gambin T; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland., Sorte HS; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Heiberg A; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., McEvoy-Venneri J; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, 92093, USA., James KN; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, 92093, USA., Stanley V; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, 92093, USA., Belandres D; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, 92093, USA., Guipponi M; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland., Santoni FA; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland., Ahangari N; Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Department of Medical/Molecular Genetics, Hope Generation Genetic Polyclinic, Mashhad, Iran., Tara F; Women's Health Research Center, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Doosti M; Department of Medical/Molecular Genetics, Hope Generation Genetic Polyclinic, Mashhad, Iran., Iwaszkiewicz J; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne, Switzerland., Zoete V; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne, Switzerland., Backe PH; Department of Microbiology, Oslo University Hospital, Oslo, Norway.; Department of Medical Biochemistry, University of Oslo, Oslo, Norway., Hamamy H; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland., Gleeson JG; Laboratory for Pediatric Brain Disease, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, 92093, USA., Lupski JR; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center of Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Karimiani EG; Razavi Cancer Research Center, Razavi Hospital, Imam Reza International University, Mashhad, Iran.; Innovative Medical Research Center, Faculty of Medicine, Mashhad Branch, Islamic Azad University, Mashhad, Iran., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland. Stylianos.Antonarakis@unige.ch.; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland. Stylianos.Antonarakis@unige.ch.; Institute of Genetics and Genomics of Geneva, Geneva, Switzerland. Stylianos.Antonarakis@unige.ch.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2018 Mar; Vol. 26 (3), pp. 330-339. Date of Electronic Publication: 2018 Jan 17.