Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Autosomal recessive primary microcephaly 2"'
Publikováno v:
Acta Epileptologica, Vol 2, Iss 1, Pp 1-6 (2020)
Abstract The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by microcephaly with variable degree of intellectual disability. WDR62 has been reported as the second causative gene of MCPH2. West syndrome is a s
Externí odkaz:
https://doaj.org/article/34af2326ae414d8895880cf5abbec5ab
Publikováno v:
Acta Epileptologica, Vol 2, Iss 1, Pp 1-6 (2020)
The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by microcephaly with variable degree of intellectual disability. WDR62 has been reported as the second causative gene of MCPH2. West syndrome is a severe epi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb9d660e6799d6b99e3f3807f64c314c
http://link.springer.com/article/10.1186/s42494-020-00012-2
http://link.springer.com/article/10.1186/s42494-020-00012-2
Akademický článek
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Autor:
Ashrafi, Farzane Zare1, Akhtarkhavari, Tara1, Fattahi, Zohreh1, Asadnezhad, Maryam1, Beheshtian, Maryam1, Arzhangi, Sanaz1, Najmabadi, Hossein1, Kahrizi, Kimia1 kahrizi@yahoo.com
Publikováno v:
Archives of Iranian Medicine (AIM). Apr2023, Vol. 26 Issue 4, p186-197. 12p.
Autor:
Bastaki, Fatma, Mohamed, Madiha, Nair, Pratibha, Saif, Fatima, Tawfiq, Nafisa, Aithala, Gururaj, El-Halik, Majdi, Al-Ali, Mahmoud, Hamzeh, Abdul Rezzak
Publikováno v:
Congenital Anomalies; May2016, Vol. 56 Issue 3, p135-137, 3p
Autor:
Meziane, Hamid, Birling, Marie-Christine, Wendling, Olivia, Leblanc, Sophie, Dubos, Aline, Selloum, Mohammed, Pavlovic, Guillaume, Sorg, Tania, Kalscheuer, Vera M., Billuart, Pierre, Laumonnier, Frédéric, Chelly, Jamel, van Bokhoven, Hans, Herault, Yann
Publikováno v:
Biomedicines; Dec2022, Vol. 10 Issue 12, p3148, 19p
Autor:
Kopparapu, Pradeep Kumar1, Miranda, Caroline1, Fogelstrand, Linda1, Mishra, Kankadeb2, Andersson, Per‐Ola3,4, Kanduri, Chandrasekhar2, Kanduri, Meena1
Publikováno v:
FEBS Journal. May2015, Vol. 282 Issue 10, p1939-1952. 14p.
Autor:
Farag, Heba Gamal1 drhebagamal@yahoo.com, Froehler, Sebastian2 sebastian.froehler@mdc-berlin.de, Oexle, Konrad3 oexle@humangenetik.med.tum.de, Ravindran, Ethiraj4 ethiraj.ravindran@charite.de, Schindler, Detlev5 schindler@biozentrum.uni-wuerzburg.de, Staab, Timo6 timo.staab@uni-wuerzburg.de, Huebner, Angela1 angela.huebner@uniklinikum-dresden.de, Kraemer, Nadine1 nadine.kraemer@charite.de, Chen, Wei1 wei.chen@mdc-berlin.de, Kaindl, Angela M.1 angela.kaindl@charite.de
Publikováno v:
Orphanet Journal of Rare Diseases. 2013, Vol. 8 Issue 1, p1-27. 26p.
Publikováno v:
Biochemical Genetics; Feb2020, Vol. 58 Issue 1, p74-101, 28p
Autor:
Rushton, J. Philippe1 (AUTHOR), Ankney, C. Davison1 (AUTHOR)
Publikováno v:
International Journal of Neuroscience. May2009, Vol. 119 Issue 5, p692-732. 41p. 2 Charts, 2 Graphs.